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
CLVS1	157807	broad.mit.edu	37	8	62370891	62370891	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:62370891A>G	uc003xuh.3	+	4	1091	c.767A>G	c.(766-768)aAc>aGc	p.N256S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	256	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AACAATTTAAACAGCCTTCAC	0.383000														89			33		0	0	0.00170553	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267631	67267631	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:67267631G>A	uc001olx.3	-	4	1091	c.902C>T	c.(901-903)cCc>cTc	p.P301L	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.P301L|PITPNM1_uc001olz.3_Missense_Mutation_p.P301L	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	301					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGCATCGGGGGAGGCATC	0.692000														23			6		0	0	0.000274275	0	0
GPR128	84873	broad.mit.edu	37	3	100354610	100354610	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:100354610C>T	uc003duc.3	+	4	805	c.537C>T	c.(535-537)atC>atT	p.I179I	GPR128_uc011bhc.2_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	179					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTGAGAACATCACTAGTGCTA	0.343000														32			7		0	0	0.000157383	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552663	18552663	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:18552663C>T	uc001rdt.3	+	14	2190	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P733S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P511S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	692					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCTCCCTTCCTTTAGTCCT	0.383000														42			43		0	0	0.000781405	0	0
NDNF	79625	broad.mit.edu	37	4	121957863	121957863	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:121957863C>T	uc003idq.1	-	3	1790	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	421								p.R420Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTTTCCTTTCAGTCGAACGA	0.413000														27			27		0	0	0.000878237	0	0
CCDC80	151887	broad.mit.edu	37	3	112357148	112357148	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:112357148C>T	uc003dzf.3	-	1	1823	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	CCDC80_uc011bhv.2_Silent_p.K535K|CCDC80_uc003dzg.3_Silent_p.K535K|CCDC80_uc003dzh.1_Silent_p.K535K	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	535	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTTTAGACTCCTTTGCTTTTT	0.428000														39			12		0	0	0.00185496	0	0
HBBP1	3044	broad.mit.edu	37	11	5264377	5264377	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5264377G>A	uc001mag.3	-	1	325	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		TTACAGTGCAGGTCACTCAGT	0.483000														13			3		0	0	6.4e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448632	110448632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110448632G>A	uc003yne.3	+	29	3675	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1191	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTGGAAATGAAACCTGCAA	0.358000										HNSCC(38;0.096)				22			17		0	0	0.00074312	0	0
CXorf22	170063	broad.mit.edu	37	X	35993850	35993850	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:35993850C>T	uc004ddj.3	+	14	2599	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	845										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGCAGTTGTCCAGCCAGTAAC	0.413000														24			24		0	0	0.000375601	0	0
TG	7038	broad.mit.edu	37	8	134146996	134146996	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:134146996C>T	uc003ytw.3	+	47	8306	c.8265C>T	c.(8263-8265)ctC>ctT	p.L2755L	TG_uc010mdw.3_Silent_p.L1514L|TG_uc011ljb.2_Silent_p.L1124L|TG_uc011ljc.2_Silent_p.L888L	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2755					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)		GAGAAGATCTCCTAAGCCTCC	0.552000														24			15		0	0	0.000422831	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651419	1651419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:1651419G>A	uc001lty.3	+	0	387	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	117	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGTCCAAGGGGGGCTGTGG	0.706000														36			28		0	0	0.00127121	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411544	105411545	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:105411544_105411545CC>TT	uc010axc.1	-	6	10363_10364	c.10243_10244GG>AA	c.(10243-10245)ggc>AAc	p.G3415N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G3315N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3415						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)			CAGCTTGGGGCCCTTGATGTCC	0.629000														223			47		0	0	6.4e-05	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450127	54450127	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:54450127A>C	uc002iun.1	+	5	766	c.731A>C	c.(730-732)aAa>aCa	p.K244T		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	244										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AACACAGAGAAAGAGAAGCAG	0.502000														92			30		0	0	0.00058488	0	0
STAG1	10274	broad.mit.edu	37	3	136087951	136087951	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:136087951C>T	uc003era.1	-	24	2837	c.2545_splice	c.e24+1	p.E849_splice	STAG1_uc003erb.1_Splice_Site_p.E849_splice|STAG1_uc003erc.1_Splice_Site_p.E623_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	849					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TACAAGTACCCATGCTCTGGT	0.368000														11			5		0	0	8.12818e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457371	110457371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457371C>T	uc003yne.3	+	37	5377	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1758	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1760Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCCCAAACTCTGTCATAGGA	0.418000										HNSCC(38;0.096)				52			23		0	0	0.00188189	0	0
FAM123C	205147	broad.mit.edu	37	2	131520776	131520776	+	Silent	SNP	C	T	T	rs148342332	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:131520776C>T	uc021voy.1	+	0	1131	c.1131C>T	c.(1129-1131)ccC>ccT	p.P377P	FAM123C_uc002trw.2_Silent_p.P377P|FAM123C_uc010fmv.2_Silent_p.P377P|FAM123C_uc010fms.1_Silent_p.P377P|FAM123C_uc010fmt.1_Silent_p.P377P|FAM123C_uc010fmu.1_Silent_p.P377P	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	377										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCGAGCAGCCCGAATCCGTGT	0.637000														25			17		0	0	0.00074312	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144548	12144548	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12144548G>A	uc001atq.3	+	1	313	c.91G>A	c.(91-93)Gga>Aga	p.G31R	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	31					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)		CACCTGTCATGGAAACCCCAG	0.597000														61			10		0	0	0.000673444	0	0
MCM3AP	8888	broad.mit.edu	37	21	47690322	47690322	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:47690322A>T	uc002zir.1	-	8	2657	c.2621T>A	c.(2620-2622)tTc>tAc	p.F874Y		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	874					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACCTGACTGAAGTAACAGTG	0.418000														97			17		0	0	0.000375601	0	0
CPSF4	10898	broad.mit.edu	37	7	99051685	99051686	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:99051685_99051686GG>TT	uc003uqj.3	+	6	810_811	c.667_668GG>TT	c.(667-669)ggg>TTg	p.G223L	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Missense_Mutation_p.G198L|CPSF4_uc003uqk.3_Missense_Mutation_p.G197L|CPSF4_uc011kix.2_Missense_Mutation_p.G145L	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	223					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGGTCATCGGGGTCATGCAG	0.579000														273			8		0	0	6.4e-05	0	0
NRXN3	9369	broad.mit.edu	37	14	80328034	80328034	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:80328034G>A	uc001xun.3	+	16	3404	c.2913G>A	c.(2911-2913)cgG>cgA	p.R971R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.R547R|NRXN3_uc010asw.3_Silent_p.R369R|NRXN3_uc001xur.4_Silent_p.R342R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	547					angiogenesis|cell adhesion	integral to membrane		p.R971Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAATCAGACGGGTTCCGGGGG	0.587000														27			17		0	0	0.000566183	0	0
CETP	1071	broad.mit.edu	37	16	57005272	57005272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57005272G>A	uc002eki.2	+	6	694	c.637G>A	c.(637-639)Gat>Aat	p.D213N	CETP_uc002ekj.2_Missense_Mutation_p.D213N	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	213					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CATCATGGCCGATTTTGTCCA	0.552000														196			90		0	0	0.000781405	0	0
UBR4	23352	broad.mit.edu	37	1	19415264	19415265	+	Silent	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:19415264_19415265GG>AA	uc001bbi.3	-	97	14422_14423	c.14418_14419CC>TT	c.(14416-14421)accctg>acTTtg	p.4806_4807TL>TL	UBR4_uc010ocv.2_Silent_p.329_330TL>TL|UBR4_uc009vph.3_Silent_p.440_441TL>TL|UBR4_uc010ocw.2_Silent_p.470_471TL>TL|UBR4_uc001bbg.3_Silent_p.517_518TL>TL|UBR4_uc001bbh.3_Silent_p.515_516TL>TL	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4806					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCATGCCCAGGGTGCCCAGGG	0.594000														36			24		0	0	6.4e-05	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580457	77580457	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77580457C>T	uc001xtd.3	+	3	1175	c.996C>T	c.(994-996)atC>atT	p.I332I	KIAA1737_uc001xtc.1_Silent_p.I234I	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	332										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TGCTGGAGATCACTTTGAAAA	0.463000														32			25		0	0	0.000375601	0	0
LOC442459	442459	broad.mit.edu	37	X	98975483	98975483	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:98975483C>T	uc011mrd.1	-	8		c.860_splice	c.e8-1							Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GAACTGGATTCCTCAAAGGAT	0.478000														3			5		0	0	0.000602214	0	0
CCNE2	9134	broad.mit.edu	37	8	95905172	95905173	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:95905172_95905173CC>AA	uc003yhc.3	-	4	294_295	c.190_191GG>TT	c.(190-192)ggg>TTg	p.G64L	CCNE2_uc003yhd.2_Missense_Mutation_p.G64L	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	64					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ACTGATCCCCCCAGATAATACA	0.302000														601			11		0	0	6.4e-05	0	0
ADAM28	10863	broad.mit.edu	37	8	24181473	24181473	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:24181473G>T	uc003xdy.3	+	8	930	c.847G>T	c.(847-849)Gtt>Ttt	p.V283F	ADAM28_uc003xdx.3_Missense_Mutation_p.V283F|ADAM28_uc011kzz.2_Missense_Mutation_p.V50F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	283	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAGGGGGAGTGTTCTCTCAAG	0.403000														7			3		2.56e-06	1.52509e-05	0.00024832	1	0
ATP8A1	10396	broad.mit.edu	37	4	42509061	42509061	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:42509061C>T	uc003gwr.2	-	22	2290	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.G671G	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	686					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTTGCTTGTCCCCTGTAAGGA	0.373000														80			45		0	0	0.000781405	0	0
TRA2B	6434	broad.mit.edu	37	3	185639812	185639813	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:185639812_185639813CC>AA	uc003fpv.3	-	4	900_901	c.624_625GG>TT	c.(622-627)atgggg>atTTgg	p.208_209MG>IW	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.108_109MG>IW	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	208	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GTAGGTCTCCCCATGTAAATTC	0.376000														578			16		0	0	6.4e-05	0	0
KLF11	8462	broad.mit.edu	37	2	10188397	10188398	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:10188397_10188398GG>TT	uc002raf.1	+	2	1095_1096	c.933_934GG>TT	c.(931-936)gtgggg>gtTTgg	p.G312W	KLF11_uc021vdq.1_Missense_Mutation_p.G295W|KLF11_uc010yjc.2_Missense_Mutation_p.G295W	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	312					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V311V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGTTGTCTGTGGGGACTGTGAG	0.579000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		837			11		0	0	6.4e-05	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434071	5434071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:5434071G>A	uc002kmt.1	-	6	741	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	EPB41L3_uc010wzh.1_Missense_Mutation_p.P219S|EPB41L3_uc002kmu.1_Missense_Mutation_p.P219S|EPB41L3_uc010dkq.1_Missense_Mutation_p.P110S|EPB41L3_uc010dks.1_Missense_Mutation_p.P241S|EPB41L3_uc002kmv.1_Missense_Mutation_p.P110S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	219	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAGGAGCAGGGCAGCCTTCCG	0.527000														40			16		0	0	0.000566183	0	0
STAB2	55576	broad.mit.edu	37	12	104078786	104078786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:104078786C>T	uc001tjw.3	+	26	3107	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	974	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATCTACTTCGTCTGGTGTC	0.453000														90			73		0	0	0.000781405	0	0
RPRD2	23248	broad.mit.edu	37	1	150445286	150445286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:150445286C>T	uc009wlr.3	+	10	4063	c.3862C>T	c.(3862-3864)Ccc>Tcc	p.P1288S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1262S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1288	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGTGGTGTCCCCTTTTCTAC	0.632000														20			17		0	0	0.000422831	0	0
THRAP3	9967	broad.mit.edu	37	1	36752393	36752393	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:36752393C>T	uc001cae.4	+	3	786	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	THRAP3_uc001caf.4_Missense_Mutation_p.R188W|THRAP3_uc001cag.1_Missense_Mutation_p.R188W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	188	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TAAGGATAGCCGGCCATCTCA	0.522000			T	USP6	aneurysmal bone cysts									110			73		0	0	0.000781405	0	0
C11orf30	56946	broad.mit.edu	37	11	76234235	76234235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:76234235C>T	uc001oxl.3	+	11	1864	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	C11orf30_uc001oxm.3_Missense_Mutation_p.S490F|C11orf30_uc010rsb.2_Missense_Mutation_p.S589F|C11orf30_uc010rsc.2_Missense_Mutation_p.S589F|C11orf30_uc001oxn.3_Missense_Mutation_p.S575F|C11orf30_uc010rsd.2_Missense_Mutation_p.S588F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	574	Thr-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAATGACTTCCAAGCCCAAC	0.428000														45			12		0	0	0.00185496	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104201504	104201504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:104201504C>T	uc001yof.1	-	16	3543	c.3260G>A	c.(3259-3261)cGa>cAa	p.R1087Q	PPP1R13B_uc010awv.1_Non-coding_Transcript	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	1087					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGCGAGTGTTCGCTGTCGGGG	0.577000														51			11		0	0	0.00136819	0	0
ROBO2	6092	broad.mit.edu	37	3	77599977	77599977	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:77599977T>C	uc011bgk.2	+	8	1723	c.1080T>C	c.(1078-1080)ctT>ctC	p.L360L	ROBO2_uc021xat.1_Silent_p.L372L|ROBO2_uc003dpy.4_Silent_p.L356L|ROBO2_uc003dpz.3_Silent_p.L360L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	356	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGAACCTACTTTTCCCAAACC	0.418000														7			3		0	0	6.4e-05	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599662	161599662	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161599662G>A	uc009wul.3	-	2	593	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCGR3B_uc021pdo.1_Silent_p.F75F	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	75					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGCGTCAATGAAGTAGCTCG	0.542000														88			24		0	0	0.00127121	0	0
COL6A5	256076	broad.mit.edu	37	3	130095577	130095577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:130095577C>T	uc010htj.1	+	2	1059	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	189	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCATTTCAACCTTCGGACAAT	0.478000														8			3		0	0	6.4e-05	0	0
ZNF274	10782	broad.mit.edu	37	19	58724216	58724216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:58724216C>T	uc002qrq.1	+	8	2125	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	ZNF274_uc002qrr.1_Missense_Mutation_p.H524Y|ZNF274_uc002qrs.1_Missense_Mutation_p.H451Y|ZNF274_uc010eum.1_Missense_Mutation_p.H316Y	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	557					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.H524N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCAGAGAGTTCATTCTGGAGA	0.507000														54			34		0	0	0.000491102	0	0
C1orf173	127254	broad.mit.edu	37	1	75072375	75072375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:75072375C>T	uc001dgg.3	-	9	1618	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E261K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	467	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						GTTACCACTTCTTTGAGCCCT	0.373000														38			21		0	0	0.00152264	0	0
OR4C15	81309	broad.mit.edu	37	11	55322792	55322792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55322792C>T	uc010rig.2	+	0	1010	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P337H(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCTCAATCCTTTGATTTAC	0.358000										HNSCC(20;0.049)				67			8		0	0	0.000274275	0	0
CA6	765	broad.mit.edu	37	1	9034702	9034702	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:9034702T>C	uc001apm.3	+	7	890	c.866T>C	c.(865-867)tTc>tCc	p.F289S	CA6_uc009vmn.3_Missense_Mutation_p.F229S	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	289					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCTGAATTCCAGTTTTAC	0.383000														18			5		0	0	8.12818e-05	0	0
PPM1H	57460	broad.mit.edu	37	12	63195741	63195741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:63195741C>T	uc001srk.3	-	2	760	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	204	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTCAGAGTCCGGCTGTTGGC	0.682000														76			18		0	0	0.00188189	0	0
LOXL2	4017	broad.mit.edu	37	8	23217632	23217632	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:23217632A>G	uc003xdh.1	-	2	841	c.502T>C	c.(502-504)Ttt>Ctt	p.F168L	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	168					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAATTGTCAAATTTGAACCCA	0.488000														53			29		0	0	0.000339439	0	0
CWH43	80157	broad.mit.edu	37	4	48990511	48990511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:48990511C>T	uc003gyv.3	+	1	243	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	CWH43_uc011bzl.2_5'UTR	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	21					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTCTTGGTCTCTCTACCATGA	0.393000														41			21		0	0	0.000375601	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460302	107460302	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:107460302G>A	uc002tdq.3	-	1	251	c.132C>T	c.(130-132)tcC>tcT	p.S44S	ST6GAL2_uc002tdr.3_Silent_p.S44S|ST6GAL2_uc002tds.3_Silent_p.S44S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	44					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTCCAGGAAGGAGAGGGAGC	0.627000														32			21		0	0	0.00152264	0	0
SEZ6	124925	broad.mit.edu	37	17	27306729	27306729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:27306729G>A	uc002hdp.2	-	2	1021	c.827C>T	c.(826-828)tCt>tTt	p.S276F	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.S276F|SEZ6_uc002hdq.1_Missense_Mutation_p.S151F|SEZ6_uc010crz.1_Missense_Mutation_p.S276F	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	276						integral to membrane|plasma membrane		p.S276F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGGTAGACAGAGATGTAGAA	0.547000														20			16		0	0	0.00152264	0	0
SPATA20	64847	broad.mit.edu	37	17	48628483	48628483	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48628483A>G	uc002ird.3	+	11	1649	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	SPATA20_uc002irc.3_Missense_Mutation_p.K154R|SPATA20_uc002ire.3_Missense_Mutation_p.K443R|SPATA20_uc002irf.3_Missense_Mutation_p.K487R|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	487					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCTGGAGAAGCTCTTCCAG	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			9		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712150	140712150	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140712150G>A	uc003lji.2	+	0	1899	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	PCDHGC5_uc011dan.2_Silent_p.L633L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	635	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCTGCTGGACAGAGACG	0.701000														57			10		0	0	0.00136819	0	0
KIF26B	55083	broad.mit.edu	37	1	245865806	245865806	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:245865806G>A	uc001ibf.1	+	14	6665	c.6225G>A	c.(6223-6225)gaG>gaA	p.E2075E		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2075					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTACCTGGAGGCACTGGAGT	0.572000														42			28		0	0	0.00127121	0	0
UBAP2	55833	broad.mit.edu	37	9	33986766	33986767	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:33986766_33986767CG>AT	uc003ztq.1	-	5	624_625	c.511_512CG>AT	c.(511-513)cgg>ATg	p.R171M	UBAP2_uc011loc.1_Missense_Mutation_p.R133M|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.R96M|UBAP2_uc011log.1_Missense_Mutation_p.R170M|UBAP2_uc003ztr.2_Missense_Mutation_p.R96M	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	171								p.R171R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACCTCTACCCCGGGCTCGCTTG	0.465000														435			9		0	0	6.4e-05	0	0
LGR5	8549	broad.mit.edu	37	12	71977943	71977944	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:71977943_71977944GG>TT	uc001swl.3	+	17	2201_2202	c.2153_2154GG>TT	c.(2152-2154)ggg>gTT	p.G718V	LGR5_uc001swm.3_Missense_Mutation_p.G694V|LGR5_uc021rar.1_Missense_Mutation_p.G646V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	718						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTGCCTTTTGGGGAGCCCAGCA	0.564000														488			12		0	0	6.4e-05	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686229	125686229	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:125686229G>A	uc022cds.1	-	0	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F	DCAF12L1_uc004eul.3_Silent_p.F121F	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	121										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGTCCACCACGAAAAGCGTGT	0.637000														7			19		0	0	0.00152264	0	0
AKT2	208	broad.mit.edu	37	19	40748502	40748503	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:40748502_40748503GG>TT	uc002onf.3	-	4	678_679	c.379_380CC>AA	c.(379-381)ccc>AAc	p.P127N	AKT2_uc010egs.3_Missense_Mutation_p.P127N|AKT2_uc010xvj.2_Missense_Mutation_p.P65N|AKT2_uc010egt.3_Missense_Mutation_p.P65N|AKT2_uc010egu.2_Missense_Mutation_p.P65N|AKT2_uc010xvk.1_Missense_Mutation_p.P127N|AKT2_uc002one.3_Missense_Mutation_p.P23N	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	127					insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGAGTCACTGGGGGAGCCACAC	0.653000			A		"""ovarian, pancreatic """									627			11		0	0	6.4e-05	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699183	60699183	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:60699183C>T	uc001nqi.3	+	5	1235	c.1042C>T	c.(1042-1044)Cta>Tta	p.L348L	TMEM132A_uc001nqj.3_Silent_p.L347L|TMEM132A_uc001nqk.3_Silent_p.L360L|TMEM132A_uc001nql.1_Silent_p.L360L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	347						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTCTGAGTTCCTATGGGTGGA	0.587000														90			28		0	0	0.00178596	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457770	48457770	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48457770G>A	uc003csw.2	-	16	3735	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.H972H|PLXNB1_uc003csx.2_Silent_p.H1155H|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'UTR	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1155	IPT/TIG 1.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.H1155H(2)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCAAAGTCGTGTTCTGAGA	0.642000														63			19		0	0	0.00121646	0	0
EMR1	2015	broad.mit.edu	37	19	6913831	6913831	+	Silent	SNP	G	A	A	rs141986863	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6913831G>A	uc002mfw.3	+	10	1328	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	EMR1_uc010dvc.3_Silent_p.T430T|EMR1_uc010dvb.3_Silent_p.T378T|EMR1_uc010xji.2_Silent_p.T289T|EMR1_uc010xjj.2_Silent_p.T253T	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	430	Ser/Thr-rich.			T -> A (in Ref. 1; CAA57232).	cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGTTCGGACGGAATACTTAG	0.502000														77			33		0	0	0.00111076	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189753	7189754	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7189753_7189754GG>TT	uc002gfp.3	+	10	1535_1536	c.1335_1336GG>TT	c.(1333-1338)atgggg>atTTgg	p.445_446MG>IW	SLC2A4_uc010cmd.3_Non-coding_Transcript	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	445					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGGAGGCTATGGGGCCCTACGT	0.545000														398			10		0	0	6.4e-05	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	83452	83452	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrGL000209.1:83452C>T	uc002qui.2	+	6	1095	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.R359C|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.R267C|KIR2DL2_uc010evh.1_Missense_Mutation_p.R255C|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	266					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCCTTCATCGCTGGTGCTC	0.522000														15			33		0	0	0.00178596	0	0
OTOP3	347741	broad.mit.edu	37	17	72937621	72937621	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:72937621G>A	uc010wrr.2	+	1	207	c.207G>A	c.(205-207)ctG>ctA	p.L69L	OTOP3_uc010wrq.2_Silent_p.L51L	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	69						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTCCTGGCTGGTGAGGCATT	0.662000														25			9		0	0	0.000219431	0	0
GPC5	2262	broad.mit.edu	37	13	92797119	92797119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:92797119G>A	uc010tif.2	+	6	1804	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	480						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGACAAGTGGGAACTTCTTCA	0.428000														28			8		0	0	0.000157383	0	0
KCNC2	3747	broad.mit.edu	37	12	75444474	75444474	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:75444474G>A	uc001sxg.1	-	2	1855	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	KCNC2_uc009zry.3_Silent_p.T437T|KCNC2_uc001sxe.3_Silent_p.T437T|KCNC2_uc001sxf.3_Silent_p.T437T|KCNC2_uc010stw.1_Silent_p.T437T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	437	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATAACCCAGGGTAGTCATGG	0.542000														7			4		0	0	0.00024832	0	0
HCK	3055	broad.mit.edu	37	20	30672294	30672294	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:30672294C>T	uc002wxh.3	+	7	1020	c.783C>T	c.(781-783)tcC>tcT	p.S261S	HCK_uc010gdy.3_Silent_p.S241S|HCK_uc021wbv.1_Silent_p.S240S|HCK_uc002wxi.3_Silent_p.S239S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	261					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCGGGAATCCCTCAAGCTGG	0.607000														47			10		0	0	0.00136819	0	0
MGAM	8972	broad.mit.edu	37	7	141752684	141752684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:141752684C>T	uc003vwy.3	+	25	3113	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1020					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1020F(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGACATCTCCTTAAAGTCT	0.468000														56			23		0	0	0.000375601	0	0
ADAM19	8728	broad.mit.edu	37	5	156915476	156915476	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:156915476G>A	uc003lwz.3	-	20	2426	c.2347C>T	c.(2347-2349)Ctg>Ttg	p.L783L	ADAM19_uc003lww.2_Silent_p.L516L|ADAM19_uc003lwy.3_Silent_p.L382L|ADAM19_uc011ddr.1_Silent_p.L714L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	783					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTTCCGCAGGATTTCCGGA	0.582000														41			8		0	0	0.000442599	0	0
PI16	221476	broad.mit.edu	37	6	36922685	36922685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36922685C>T	uc021yzd.1	+	1	372	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PI16_uc003omz.1_Missense_Mutation_p.T50M|PI16_uc003ona.3_Missense_Mutation_p.T50M	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	50			T -> P (in dbSNP:rs1405069).			extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTATCCCCGACGGCCTCAGAC	0.627000														22			19		0	0	0.00188189	0	0
FAM153B	202134	broad.mit.edu	37	5	175530253	175530253	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:175530253G>A	uc003mdk.3	+	12	745	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	230										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTACTTCAGGAGCTGTCCAG	0.488000														269			60		0	0	0.000781405	0	0
MDFIC	29969	broad.mit.edu	37	7	114619728	114619728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:114619728C>T	uc003vhf.3	+	3	975	c.385C>T	c.(385-387)Caa>Taa	p.Q129*		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	129					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ACCTGTTTCTCAAAAAATGCA	0.433000														42			23		0	0	0.00047179	0	0
TTC40	54777	broad.mit.edu	37	10	134626349	134626349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:134626349C>T	uc021qbc.1	-	54	7542	c.7441G>A	c.(7441-7443)Gga>Aga	p.G2481R		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	642										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCTCCATTCCATAGAAGAAG	0.597000														38			36		0	0	0.00195071	0	0
THSD7B	80731	broad.mit.edu	37	2	138163337	138163337	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:138163337G>A	uc002tva.1	+	11	2562	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T744T	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)		CCTGCTCCACGAACTGTGAAG	0.498000														15			4		0	0	0.00024832	0	0
DOCK9	23348	broad.mit.edu	37	13	99567641	99567641	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:99567641G>A	uc001vnt.2	-	7	892	c.837C>T	c.(835-837)atC>atT	p.I279I	DOCK9_uc001vnw.2_Silent_p.I278I|DOCK9_uc021rlw.1_Silent_p.I278I|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.I279I|DOCK9_uc010tis.1_Silent_p.I278I|DOCK9_uc010tit.1_Silent_p.I279I|DOCK9_uc010afu.1_Silent_p.I94I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	279	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.I279I(2)|p.I278I(1)|p.I290I(1)		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)					TGAGCTGGAGGATCTTATTTA	0.448000														42			19		0	0	0.00188189	0	0
KIF5A	3798	broad.mit.edu	37	12	57976385	57976385	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:57976385G>A	uc001sor.1	+	27	3201	c.2993_splice	c.e27-1	p.G998_splice	KIF5A_uc010srr.1_Splice_Site_p.G909_splice|BC033961_uc001sos.3_5'Flank	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	998	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCTCTTCAGGAAATGCCACA	0.438000														132			103		0	0	0.000781405	0	0
TPR	7175	broad.mit.edu	37	1	186287932	186287932	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:186287932G>A	uc001grv.3	-	46	6894	c.6597C>T	c.(6595-6597)ttC>ttT	p.F2199F	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2199					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CATGAGCTAGGAACAGGGGTG	0.403000			T	NTRK1	papillary thyroid									83			19		0	0	0.00121646	0	0
FGG	2266	broad.mit.edu	37	4	155531292	155531292	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:155531292C>T	uc003ioj.3	-	4	600	c.459G>A	c.(457-459)aaG>aaA	p.K153K	FGG_uc003iog.3_Silent_p.K153K	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	153					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCTGGGCTACCTTCTCTTTCA	0.348000														10			10		0	0	0.000673444	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657564	100657564	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:100657564C>T	uc009ztv.1	-	1	268	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.D89N|DEPDC4_uc001thj.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	89	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GTGAAACAGTCTTTGTATGTC	0.413000														60			48		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9069895G>A	uc002mkp.3	-	2	17755	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F5850I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTACAAAAGGAAAAGTGGAG	0.478000														89			34		0	0	0.000953801	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510406	167510406	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:167510406G>A	uc003ffa.4	+	3	708	c.510G>A	c.(508-510)agG>agA	p.R170R	SERPINI1_uc003ffb.4_Silent_p.R170R	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	170					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						TATCCCCAAGGGATTTTGATG	0.383000														23			8		0	0	0.000442599	0	0
PARM1	25849	broad.mit.edu	37	4	75937974	75937974	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:75937974G>A	uc003hih.2	+	1	636	c.383G>A	c.(382-384)gGc>gAc	p.G128D		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	128					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACAGCTCGGGCACTCCTGAA	0.577000														83			20		0	0	0.000958276	0	0
GABRG2	2566	broad.mit.edu	37	5	161569285	161569285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:161569285G>A	uc010jjc.3	+	7	1363	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	GABRG2_uc003lyy.4_Nonsense_Mutation_p.W295*|GABRG2_uc003lyz.4_Nonsense_Mutation_p.W295*|GABRG2_uc011dej.2_Nonsense_Mutation_p.W200*	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	295					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCTTTCTGGATCAATAAGG	0.403000														35			41		0	0	0.000437636	0	0
PIWIL1	9271	broad.mit.edu	37	12	130840172	130840172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:130840172G>A	uc001uik.3	+	11	1635	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	PIWIL1_uc001uij.2_Missense_Mutation_p.R455K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	455					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCTCAGGAAGAATTTTGCAA	0.413000														146			31		0	0	0.001512	0	0
PTPRK	5796	broad.mit.edu	37	6	128388688	128388688	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:128388688G>A	uc003qbk.3	-	11	2500	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	PTPRK_uc010kfc.3_Silent_p.F711F|PTPRK_uc003qbj.3_Silent_p.F711F|PTPRK_uc011ebu.2_Silent_p.F711F|PTPRK_uc003qbl.1_Silent_p.F581F|PTPRK_uc011ebv.1_Silent_p.F711F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	711					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCATCGCCTGGAAATAGATGT	0.488000														7			10		0	0	0.000442599	0	0
RELN	5649	broad.mit.edu	37	7	103244906	103244906	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:103244906C>T	uc022ajr.1	-	22	3193	c.3033G>A	c.(3031-3033)tgG>tgA	p.W1011*	RELN_uc022ajq.1_Nonsense_Mutation_p.W1011*|RELN_uc010liz.3_Nonsense_Mutation_p.W1011*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1011					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTGGCTCCAGCGGAAAC	0.498000														22			10		0	0	0.000673444	0	0
CSF1	1435	broad.mit.edu	37	1	110466450	110466450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:110466450C>T	uc001dyu.2	+	5	1620	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P403S|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	403					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCAGGCTCTCCCAGGATCTC	0.667000														33			23		0	0	0.000586117	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554452	140554452	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140554452A>G	uc003lit.3	+	0	2210	c.2036A>G	c.(2035-2037)gAc>gGc	p.D679G	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	679					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P678S(1)		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)			GCGGCCCCGGACCAGGCCAAC	0.701000														225			5		0	0	8.12818e-05	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408432	2408432	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:2408432C>T	uc010xgx.2	+	6	819	c.819C>T	c.(817-819)gcC>gcT	p.A273A	TMPRSS9_uc002lvv.1_Silent_p.A307A	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	273	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCGGGCCCAGGTGGTCC	0.667000														64			30		0	0	0.000409698	0	0
ECE2	9718	broad.mit.edu	37	3	184005663	184005663	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:184005663G>A	uc003fni.4	+	10	1694	c.1656G>A	c.(1654-1656)acG>acA	p.T552T	ECE2_uc011brh.1_Silent_p.T405T|ECE2_uc003fnl.4_Silent_p.T480T|ECE2_uc003fnm.4_Silent_p.T434T|ECE2_uc003fnk.4_Silent_p.T405T|ECE2_uc011bri.1_Silent_p.T467T|ECE2_uc010hxv.3_Silent_p.T196T	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	552	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCAACACGGATGACGCCC	0.522000														68			10		0	0	0.000978159	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038220	14038220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:14038220G>A	uc004cwb.3	-	3	792	c.449C>T	c.(448-450)aCc>aTc	p.T150I	GEMIN8_uc004cwc.3_Missense_Mutation_p.T150I|GEMIN8_uc004cwd.3_Missense_Mutation_p.T150I	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	150					spliceosomal snRNP assembly	Cajal body|SMN complex|cytoplasm|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						ATGCCTCTCGGTCTCTGCAAA	0.443000														24			60		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175729	140175729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140175729C>T	uc003lhd.2	+	0	1286	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P394S|PCDHAC2_uc011czy.2_Missense_Mutation_p.P394S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	409	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCACGTCCCTTTCAAGCT	0.587000														112			34		0	0	0.000814825	0	0
SYT15	83849	broad.mit.edu	37	10	46969437	46969437	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:46969437C>T	uc001jea.3	-	1	177	c.24G>A	c.(22-24)gtG>gtA	p.V8V	SYT15_uc001jdz.2_Silent_p.V8V|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	8						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCCCCCAATCACCAGGGCCA	0.627000														14			7		0	0	0.000157383	0	0
CHODL	140578	broad.mit.edu	37	21	19628953	19628953	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:19628953C>T	uc002ykv.3	+	1	598	c.207C>T	c.(205-207)ctC>ctT	p.L69L	CHODL_uc002ykr.3_Silent_p.L28L|CHODL_uc002yks.3_Silent_p.L28L|CHODL_uc021whr.1_Silent_p.L28L|CHODL_uc002ykt.3_Silent_p.L28L|CHODL_uc002yku.3_Silent_p.L28L|CHODL_uc021whs.1_Silent_p.L50L	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	69	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.L68I(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GAGTCCTCCTCAGCCTTGAGA	0.507000														18			9		0	0	0.000442599	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367719	145367719	+	Missense_Mutation	SNP	G	A	A	rs145025037	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:145367719G>A	uc021oul.1	+	82	10350	c.10315G>A	c.(10315-10317)Gaa>Aaa	p.E3439K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3439										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGCAGAAATTGAAaagaaggg	0.433000														57			10		0	0	0.000978159	0	0
FAM83B	222584	broad.mit.edu	37	6	54805266	54805266	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54805266C>T	uc003pck.3	+	4	1613	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	499										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAATTGAATCCTACTTAAATG	0.408000														14			8		0	0	0.000157383	0	0
PI4KA	5297	broad.mit.edu	37	22	21088833	21088834	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:21088833_21088834CC>AA	uc002zsz.4	-	32	3836_3837	c.3575_3576GG>TT	c.(3574-3576)cgg>cTT	p.R1192L	PI4KA_uc002zsy.4_Missense_Mutation_p.R2L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1192					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCCATCTCCCGCATGAACTA	0.490000														142			6		0	0	6.4e-05	0	0
PCDH19	57526	broad.mit.edu	37	X	99662087	99662087	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:99662087G>A	uc010nmz.3	-	0	3185	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PCDH19_uc004efw.4_Silent_p.F503F|PCDH19_uc004efx.4_Silent_p.F503F	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGACATAGGTGAAGACAGGCA	0.582000														11			35		0	0	0.000491102	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589404	136589404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:136589404C>T	uc003qgx.1	-	9	2546	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	BCLAF1_uc011edb.1_Missense_Mutation_p.E93K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E763K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E763K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E592K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	765					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E765K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCTTTTCTTCTCGAGAACTG	0.383000														19			5		0	0	0.000602214	0	0
UNC79	57578	broad.mit.edu	37	14	93990337	93990337	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:93990337C>T	uc001ybv.1	+	4	464	c.381C>T	c.(379-381)atC>atT	p.I127I	UNC79_uc001ybs.1_Silent_p.I127I|UNC79_uc001ybu.1_Silent_p.I65I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	304						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAATCCCATCCACTGCCAGC	0.363000														44			17		0	0	0.000295444	0	0
PTPRO	5800	broad.mit.edu	37	12	15654688	15654688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:15654688C>T	uc001rcv.2	+	4	1266	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	PTPRO_uc001rcw.2_Missense_Mutation_p.H266Y|PTPRO_uc001rcu.2_Missense_Mutation_p.H266Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	266	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H266Y(2)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAACTCTTCCATTTTACAGA	0.398000														20			4		0	0	0.000602214	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936736	209936736	+	Splice_Site	SNP	A	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:209936736A>T	uc001hho.3	+	7	1026	c.606_splice	c.e7+1	p.K202_splice	TRAF3IP3_uc001hhm.2_Splice_Site_p.K202_splice|TRAF3IP3_uc001hhn.3_Splice_Site_p.K182_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.K202_splice	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	202						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GATTACCTCAAAGTAAGTGGC	0.502000														77			48		0	0	0.000781405	0	0
CCDC158	339965	broad.mit.edu	37	4	77288720	77288720	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:77288720G>A	uc003hkb.4	-	10	1710	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	519										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GGAGCTTTGTGATCTCTGCAT	0.493000														43			26		0	0	0.00106085	0	0
S1PR1	1901	broad.mit.edu	37	1	101704868	101704868	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:101704868T>C	uc021oqt.1	+	0	328	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	S1PR1_uc001dud.2_Missense_Mutation_p.Y110H|S1PR1_uc009weg.2_Missense_Mutation_p.Y110H	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	110					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGCCACCACCTACAAGCTCAC	0.567000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			15		0	0	0.000219431	0	0
C15orf49	0	broad.mit.edu	37	15	25337112	25337112	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:25337112G>A	uc001yyi.1	-	0	413	c.413C>T	c.(412-414)tCc>tTc	p.S138F	IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyb.4_Intron|IPW_uc001yyd.3_Intron|SNORD116-24_uc001yyj.3_5'Flank					Homo sapiens chromosome 15 open reading frame 49, mRNA (cDNA clone MGC:95352 IMAGE:7216891), complete cds.																		CCAGGCTTAGGATGGGGTCCA	0.532000														17			8		0	0	0.000157383	0	0
APOL3	80833	broad.mit.edu	37	22	36537305	36537305	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:36537305C>T	uc003aot.3	-	2	1190	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	APOL3_uc003aoq.3_Silent_p.E313E|APOL3_uc003aor.3_Silent_p.E313E|APOL3_uc003aos.3_Silent_p.E313E|APOL3_uc003aou.3_Silent_p.E184E|APOL3_uc003aov.3_Silent_p.E184E|APOL3_uc021wol.1_Silent_p.E184E	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	384					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CCATTAGATTCTCCTCCAGCT	0.552000														71			36		0	0	0.000692331	0	0
CISH	1154	broad.mit.edu	37	3	50645375	50645375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:50645375C>T	uc010hlq.3	-	3	778	c.491G>A	c.(490-492)aGg>aAg	p.R164K	CISH_uc003dax.3_Missense_Mutation_p.R147K	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	147					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GATGCGTGGCCTGGACAAGCA	0.587000														47			10		0	0	0.000673444	0	0
OR10G7	390265	broad.mit.edu	37	11	123909436	123909436	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:123909436G>A	uc001pzq.1	-	0	273	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGGAAGGAGATAGTCCTGC	0.527000														141			37		0	0	0.00195071	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249340	140249340	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140249340G>A	uc003lia.2	+	0	1510	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.G218R	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	233	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGACGGGGGAAAACCAGA	0.413000														20			6		0	0	0.00116845	0	0
TTC18	118491	broad.mit.edu	37	10	75082767	75082767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:75082767C>T	uc009xrc.3	-	9	1197	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	TTC18_uc001jty.3_Missense_Mutation_p.G359E|TTC18_uc009xrd.1_Missense_Mutation_p.G167E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	359							binding	p.R358W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATGAAAAGCTCCCCGAATTCT	0.358000														34			30		0	0	0.000491102	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540380	94540380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:94540380G>A	uc003unp.3	+	1	1237	c.955G>A	c.(955-957)Gat>Aat	p.D319N	PPP1R9A_uc010lfj.3_Missense_Mutation_p.D319N|PPP1R9A_uc011kif.2_Missense_Mutation_p.D319N|PPP1R9A_uc003unq.3_Missense_Mutation_p.D319N|PPP1R9A_uc011kig.2_Missense_Mutation_p.D319N	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	319						cell junction|synapse|synaptosome	actin binding	p.K318>?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CATTGACAAAGATGGTCCTGA	0.468000										HNSCC(28;0.073)				42			19		0	0	0.00188189	0	0
TNC	3371	broad.mit.edu	37	9	117810806	117810806	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:117810806G>A	uc004bjj.4	-	15	4997	c.4585C>T	c.(4585-4587)Ctg>Ttg	p.L1529L	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1529	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGAAGGGGCAGGGCCTCTGAA	0.473000														23			7		0	0	0.000157383	0	0
OR6V1	346517	broad.mit.edu	37	7	142750017	142750017	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142750017G>A	uc011ksv.2	+	0	580	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCGCCTGTTGGAATTCTGGGA	0.522000														146			80		0	0	0.000781405	0	0
TBC1D24	57465	broad.mit.edu	37	16	2569310	2569310	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2569310C>T	uc002cqm.3	+	1	1172	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	ATP6V0C_uc021tav.1_Silent_p.I57I|ATP6V0C_uc002cqn.3_Silent_p.I57I|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.	0					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGTCCATCATCCCAGTGGTCA	0.602000														40			15		0	0	0.000422831	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175670	143175670	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143175670C>T	uc003wdc.1	+	0	705	c.705C>T	c.(703-705)tcC>tcT	p.S235S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	235					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S235Y(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCTGAAGTCCCTCATCTCCT	0.498000														65			31		0	0	0.000409698	0	0
TTN	7273	broad.mit.edu	37	2	179584294	179584294	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179584294G>A	uc021vsy.1	-	78	20418	c.20193C>T	c.(20191-20193)tcC>tcT	p.S6731S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S3392S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7658	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6731S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACATGGACGGATACAGTGC	0.388000														35			13		0	0	0.000422831	0	0
BATF3	55509	broad.mit.edu	37	1	212870375	212870376	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:212870375_212870376CC>TT	uc001hjl.2	-	1	345_346	c.122_123GG>AA	c.(121-123)agg>aAA	p.R41K		NM_018664	NP_061134	Q9NR55	BATF3_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA.	41					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTTTTTCTCTCCTTCGGACCTT	0.559000														48			22		0	0	6.4e-05	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726907	32726907	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32726907C>T	uc003obz.2	-	3	448	c.365_splice	c.e3-1	p.V122_splice	HLA-DQB2_uc003oby.4_Splice_Site_p.V122_splice	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	122					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CTGTGGGCTCCACTGAGGGCA	0.542000														29			4		0	0	0.000602214	0	0
DDX54	79039	broad.mit.edu	37	12	113599084	113599084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:113599084G>A	uc001tuq.4	-	18	2432	c.2404C>T	c.(2404-2406)Cgt>Tgt	p.R802C	DDX54_uc001tup.3_Missense_Mutation_p.R802C	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	802					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity	p.R802H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTTGGCCACGGTCTCGCTTC	0.577000														40			32		0	0	0.00058488	0	0
PRKACG	5568	broad.mit.edu	37	9	71628484	71628484	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:71628484G>A	uc004agy.3	-	0	556	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	175	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTGCTGGTCGATGAGGAGAT	0.642000														15			7		0	0	8.12818e-05	0	0
SLIT3	6586	broad.mit.edu	37	5	168135017	168135017	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:168135017C>T	uc010jjg.3	-	25	3249	c.2829G>A	c.(2827-2829)gtG>gtA	p.V943V	SLIT3_uc003mab.3_Silent_p.V936V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	936	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTACAGCTCCACAGGGTCCT	0.612000														37			5		0	0	8.12818e-05	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411972	23411972	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:23411972G>A	uc004dal.4	+	2	2345	c.2337G>A	c.(2335-2337)aaG>aaA	p.K779K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	779					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTCTGGGCAAGGATTTCACAA	0.378000														14			17		0	0	0.000566183	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691382	10691382	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:10691382C>T	uc002kos.2	-	44	7026	c.6852_splice	c.e44-1	p.R2284_splice	PIEZO2_uc002koq.3_Splice_Site_p.R139_splice	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2284						integral to membrane	ion channel activity										GCTGAATTTCCTAAAATGTAA	0.418000														19			7		0	0	0.000157383	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														67			6		0	0	0.000978159	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927333	43927334	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:43927333_43927334CC>AA	uc010yny.2	+	7	1319_1320	c.1236_1237CC>AA	c.(1234-1239)acccca>acAAca	p.P413T	PLEKHH2_uc002rte.3_Missense_Mutation_p.P413T|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P412T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	413						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTATTTTGACCCCAGCTTTAAT	0.426000														598			11		0	0	6.4e-05	0	0
PSMC1	5700	broad.mit.edu	37	14	90730407	90730407	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:90730407T>G	uc001xyf.3	+	5	536	c.488T>G	c.(487-489)cTg>cGg	p.L163R	PSMC1_uc001xyg.3_Missense_Mutation_p.L90R|PSMC1_uc001xyh.3_Missense_Mutation_p.L90R	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	163					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ATAGGGGTGCTGATGGATGAC	0.498000														21			17		0	0	0.00152264	0	0
DSG1	1828	broad.mit.edu	37	18	28934957	28934957	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:28934957T>A	uc002kwp.3	+	14	3010	c.2798T>A	c.(2797-2799)aTg>aAg	p.M933K	DSG1_uc010xbp.2_Missense_Mutation_p.M292K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	933					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACTTCCGGCATGATAGGTAGT	0.483000														159			41		0	0	0.000680045	0	0
IDE	3416	broad.mit.edu	37	10	94234693	94234694	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:94234693_94234694CG>AT	uc001kia.3	-	16	2096_2097	c.2020_2021CG>AT	c.(2020-2022)cgg>ATg	p.R674M	IDE_uc010qnp.2_Missense_Mutation_p.R119M|IDE_uc001khz.3_Missense_Mutation_p.R119M	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	674					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGTTCAGCCCGGAAATTGTTA	0.386000														413			8		0	0	6.4e-05	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100779	74100779	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:74100779G>A	uc001jsz.2	-	3	859	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	DNAJB12_uc001jta.2_Missense_Mutation_p.L237F|DNAJB12_uc010qjv.1_Missense_Mutation_p.L237F	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	203					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ATGTTGAAGAGGTCTTCAGGG	0.607000														17			8		0	0	0.000157383	0	0
TBX5	6910	broad.mit.edu	37	12	114841557	114841557	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:114841557C>T	uc001tvo.3	-	2	642	c.147_splice	c.e2+1	p.Q49_splice	TBX5_uc001tvp.3_Splice_Site_p.Q49_splice|TBX5_uc001tvq.3_Intron|TBX5_uc010syv.2_Splice_Site_p.Q49_splice	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	49			Q -> K (in HOS).	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTCTCCTTACCTGCTGGGTGA	0.602000														63			54		0	0	0.000781405	0	0
SLIT3	6586	broad.mit.edu	37	5	168189612	168189612	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:168189612C>T	uc010jjg.3	-	14	1962	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	SLIT3_uc003mab.3_Silent_p.T514T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	514	LRRNT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCACAATCGTGCCCTCAC	0.597000														104			31		0	0	0.000409698	0	0
WASH3P	374666	broad.mit.edu	37	15	102516443	102516443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:102516443G>A	uc002cdi.3	+	10	2189	c.769G>A	c.(769-771)Gag>Aag	p.E257K	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ACAGGCAGAGGAGGACGAGGA	0.657000														62			6		0	0	0.000157383	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764903	92764903	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:92764903C>G	uc003umh.1	-	4	1598	c.382G>C	c.(382-384)Gat>Cat	p.D128H	SAMD9L_uc003umj.1_Missense_Mutation_p.D128H|SAMD9L_uc003umi.1_Missense_Mutation_p.D128H|SAMD9L_uc010lfb.1_Missense_Mutation_p.D128H|SAMD9L_uc003umk.1_Missense_Mutation_p.D128H|SAMD9L_uc010lfc.1_Missense_Mutation_p.D128H|SAMD9L_uc010lfd.1_Missense_Mutation_p.D128H|SAMD9L_uc022ahh.1_Missense_Mutation_p.D128H	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	128										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTTTGATATCTCTGATCTCT	0.323000														19			12		0	0	0.000978159	0	0
C6orf72	116254	broad.mit.edu	37	6	149901026	149901026	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:149901026C>T	uc003qmq.1	+	4	509	c.486C>T	c.(484-486)ctC>ctT	p.L162L	C6orf72_uc010kie.1_Silent_p.L42L	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	162						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		GGGGAGTACTCAGACATTCAA	0.348000														40			31		0	0	0.000339439	0	0
KLF11	8462	broad.mit.edu	37	2	10188472	10188473	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:10188472_10188473GG>TT	uc002raf.1	+	2	1170_1171	c.1008_1009GG>TT	c.(1006-1011)caggga>caTTga	p.336_337QG>H*	KLF11_uc021vdq.1_Nonsense_Mutation_p.319_320QG>H*|KLF11_uc010yjc.2_Nonsense_Mutation_p.319_320QG>H*	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	336					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CTGTGCCTCAGGGAGCTGTGAT	0.634000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		676			12		0	0	6.4e-05	0	0
KIAA1217	56243	broad.mit.edu	37	10	24810711	24810711	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:24810711G>A	uc001iru.4	+	12	2712	c.2309_splice	c.e12-1	p.G770_splice	KIAA1217_uc001irs.3_Splice_Site_p.G690_splice|KIAA1217_uc001irt.4_Splice_Site_p.G735_splice|KIAA1217_uc010qcy.2_Splice_Site_p.G735_splice|KIAA1217_uc010qcz.2_Splice_Site_p.G735_splice|KIAA1217_uc001irv.1_Splice_Site_p.G585_splice|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Splice_Site_p.G453_splice|KIAA1217_uc001irz.3_Splice_Site_p.G453_splice|KIAA1217_uc001irx.3_Splice_Site_p.G453_splice|KIAA1217_uc001iry.3_Splice_Site_p.G453_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	770					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGGCCTGCAGGAGAATTTCCA	0.527000														129			22		0	0	0.000586117	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710395	140710395	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140710395C>T	uc003lji.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGC5_uc011dan.2_Silent_p.I48I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	48	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCAACATCGCCAAGGACC	0.552000														104			22		0	0	0.00188189	0	0
PTPRN	5798	broad.mit.edu	37	2	220167205	220167205	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:220167205G>A	uc002vkz.3	-	5	889	c.648C>T	c.(646-648)tcC>tcT	p.S216S	PTPRN_uc010zlc.2_Silent_p.S126S|PTPRN_uc002vla.3_Silent_p.S216S	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	216					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCCATCACGGGAGCCAAACT	0.617000														54			29		0	0	0.001512	0	0
DLEC1	9940	broad.mit.edu	37	3	38126833	38126833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38126833C>T	uc003chp.1	+	7	1351	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	DLEC1_uc003cho.1_Missense_Mutation_p.P444S|DLEC1_uc010hgv.1_Missense_Mutation_p.P444S|DLEC1_uc010hgw.1_Intron|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	444					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGTTTTTTCCCGACTGCCT	0.537000														55			50		0	0	0.000781405	0	0
C8B	732	broad.mit.edu	37	1	57406649	57406649	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:57406649A>G	uc001cyp.3	-	8	1338	c.1271T>C	c.(1270-1272)gTg>gCg	p.V424A	C8B_uc010oon.2_Missense_Mutation_p.V362A|C8B_uc010ooo.2_Missense_Mutation_p.V372A	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	424	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCAGGACCACCAAGTCCTC	0.577000														16			5		0	0	0.00116845	0	0
COL6A3	1293	broad.mit.edu	37	2	238274599	238274599	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:238274599G>A	uc002vwl.2	-	11	5865	c.5580C>T	c.(5578-5580)tcC>tcT	p.S1860S	COL6A3_uc002vwo.2_Silent_p.S1654S|COL6A3_uc010znj.1_Silent_p.S1253S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1860	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTCCACCTTGGACTCGAAGC	0.552000														91			54		0	0	0.000781405	0	0
PRMT2	3275	broad.mit.edu	37	21	48068404	48068404	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:48068404G>T	uc002zjx.3	+	5	696	c.362G>T	c.(361-363)cGa>cTa	p.R121L	PRMT2_uc021wkc.1_Missense_Mutation_p.R121L|PRMT2_uc002zjw.3_Missense_Mutation_p.R121L|PRMT2_uc002zjy.3_Missense_Mutation_p.R121L|PRMT2_uc010gqm.3_Missense_Mutation_p.R121L|PRMT2_uc011aga.2_Missense_Mutation_p.R121L|PRMT2_uc011agb.2_Missense_Mutation_p.R121L|PRMT2_uc011agc.2_Missense_Mutation_p.R121L|PRMT2_uc002zjz.1_Missense_Mutation_p.R7L	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	121	Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GACCAGCCACGAACAACTAAA	0.493000														54			25		8.24728e-16	4.9588e-15	0.000720815	1	0
KCTD19	146212	broad.mit.edu	37	16	67325353	67325353	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67325353C>T	uc002esu.2	-	13	2475	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	KCTD19_uc002est.2_Silent_p.L580L|KCTD19_uc010vjj.1_Silent_p.L551L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	808						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAGAGAAACTCAGGAAAGTCA	0.512000														20			14		0	0	0.000308642	0	0
TMC5	79838	broad.mit.edu	37	16	19474639	19474639	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:19474639C>T	uc002dgc.4	+	6	1935	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	TMC5_uc010vaq.2_Missense_Mutation_p.R396C|TMC5_uc002dgb.4_Missense_Mutation_p.R396C|TMC5_uc010var.2_Missense_Mutation_p.R396C|TMC5_uc002dgd.1_Missense_Mutation_p.R150C|TMC5_uc002dge.4_Missense_Mutation_p.R150C|TMC5_uc002dgf.4_Missense_Mutation_p.R79C|TMC5_uc002dgg.4_Missense_Mutation_p.R37C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	396						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGACCCATCGTATCCTTCA	0.408000														63			26		0	0	0.000878237	0	0
ASCC3	10973	broad.mit.edu	37	6	100957860	100957860	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:100957860G>A	uc003pqk.3	-	40	6738	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	2137	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R2137*(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGATGATTTCGAATATATCCT	0.343000														82			72		0	0	0.000781405	0	0
MRVI1	10335	broad.mit.edu	37	11	10626044	10626044	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:10626044G>A	uc010rcc.1	-	12	2037	c.1651C>T	c.(1651-1653)Ctg>Ttg	p.L551L	MRVI1_uc010rcb.1_Silent_p.L543L|MRVI1_uc001miw.2_Silent_p.L542L|MRVI1_uc001mix.3_Silent_p.L236L|MRVI1_uc001miz.2_Silent_p.L460L|MRVI1_uc010rcd.1_Silent_p.L345L|MRVI1_uc009ygd.1_Silent_p.L236L|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	524	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTAGATTCCAGAGTGTAGCTG	0.463000														79			22		0	0	0.00188189	0	0
CCDC108	255101	broad.mit.edu	37	2	219903182	219903182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:219903182G>A	uc002vjl.1	-	3	356	c.272C>T	c.(271-273)tCc>tTc	p.S91F	CCDC108_uc010zkp.1_Missense_Mutation_p.S80F|CCDC108_uc010zkq.1_Missense_Mutation_p.S26F|CCDC108_uc002vjn.3_Missense_Mutation_p.S26F	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	91						integral to membrane	structural molecule activity	p.G90A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCAGGCAGGATCCACCAGA	0.597000														32			16		0	0	0.00074312	0	0
KCNH1	3756	broad.mit.edu	37	1	211192238	211192238	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:211192238C>T	uc001hib.2	-	5	1089	c.919G>A	c.(919-921)Gat>Aat	p.D307N	KCNH1_uc001hic.2_Missense_Mutation_p.D307N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	307					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTGATGACATCATATGGCAAA	0.483000														26			25		0	0	0.000878237	0	0
PNLIP	5406	broad.mit.edu	37	10	118327281	118327281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:118327281G>A	uc001lcm.3	+	12	1412	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	457	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGTCAGGGAGGAAGTTCTGCT	0.438000														33			23		0	0	0.000586117	0	0
REST	5978	broad.mit.edu	37	4	57797783	57797783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:57797783C>T	uc003hch.3	+	3	3106	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	REST_uc003hci.3_Missense_Mutation_p.S920L|REST_uc010ihf.3_Missense_Mutation_p.S594L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	920					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCATATTTCATCCTCTGGA	0.413000														46			14		0	0	0.00185496	0	0
SPDYA	245711	broad.mit.edu	37	2	29063175	29063175	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:29063175C>A	uc002rmj.3	+	6	896	c.690C>A	c.(688-690)ctC>ctA	p.L230L	SPDYA_uc002rmi.3_Silent_p.L230L|SPDYA_uc002rmk.3_Silent_p.L230L|SPDYA_uc002rml.3_Silent_p.L230L	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	230					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTGTTCACTCTGTGGTAAAA	0.443000														36			13		6.31663e-08	3.76621e-07	0.000308642	1	0
GRM7	2917	broad.mit.edu	37	3	7620408	7620408	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:7620408C>T	uc003bqm.2	+	7	2089	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T605T|GRM7_uc003bql.2_Silent_p.T605T|GRM7_uc003bqn.1_Silent_p.T188T|GRM7_uc010hch.1_Silent_p.T116T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	605					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCATTGCCACCATCTTTGTCA	0.522000														29			15		0	0	0.000308642	0	0
ASAP3	55616	broad.mit.edu	37	1	23758187	23758187	+	Splice_Site	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23758187A>G	uc001bha.2	-	23	2670	c.2546_splice	c.e23+1	p.S849_splice	ASAP3_uc001bgy.1_Splice_Site_p.S353_splice|ASAP3_uc010odz.1_Splice_Site_p.S739_splice|ASAP3_uc010oea.1_Splice_Site_p.S840_splice	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	849					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GCCCTCACCAACCTGAATCTG	0.577000														48			9		0	0	0.000442599	0	0
OR51B5	282763	broad.mit.edu	37	11	5364200	5364200	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5364200G>A	uc001map.1	-	0	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.L185L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAGGCGAGTTTAATGA	0.433000														59			48		0	0	0.000781405	0	0
FAM177B	400823	broad.mit.edu	37	1	222922892	222922892	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:222922892G>A	uc001hnt.3	+	4	593	c.327G>A	c.(325-327)agG>agA	p.R109R	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	109										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AGTTCTATAGGATACAAAACA	0.393000														35			9		0	0	0.000442599	0	0
SDK1	221935	broad.mit.edu	37	7	4056981	4056981	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:4056981G>A	uc003smx.3	+	16	2738	c.2599G>A	c.(2599-2601)Gga>Aga	p.G867R	SDK1_uc010kso.3_Missense_Mutation_p.G143R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	867					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACCTTGCAGGGAGGTAAGCT	0.537000														20			14		0	0	0.000219431	0	0
SOGA3	387104	broad.mit.edu	37	6	127797247	127797247	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:127797247G>A	uc003qbd.3	-	5	2789	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	642						integral to membrane											AGCTCCGACAGGGATTCGCTC	0.642000														73			23		0	0	0.00188189	0	0
EIF2B3	8891	broad.mit.edu	37	1	45363041	45363041	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:45363041G>A	uc001cmt.2	-	5	848	c.642C>T	c.(640-642)ttC>ttT	p.F214F	EIF2B3_uc001cmu.2_Silent_p.F214F|EIF2B3_uc001cmw.3_Silent_p.F214F	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	214					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTTCCATTAGGAAATCCACGA	0.348000														19			4		0	0	0.00116845	0	0
RGS22	26166	broad.mit.edu	37	8	101092404	101092404	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:101092404G>A	uc003yjb.1	-	3	492	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RGS22_uc003yja.1_Silent_p.A3A|RGS22_uc003yjc.1_Silent_p.A99A|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.A3A	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	99					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCATCGGGGGCATTCATTT	0.323000														100			38		0	0	0.000781405	0	0
INO80E	283899	broad.mit.edu	37	16	30012333	30012333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:30012333C>T	uc002dvg.1	+	4	469	c.368C>T	c.(367-369)tCc>tTc	p.S123F	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	123	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CTTCAGGCCTCCGGGGTCCCC	0.652000														48			16		0	0	0.000566183	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634243	70634243	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70634243C>T	uc001xly.3	-	1	1651	c.897G>A	c.(895-897)ggG>ggA	p.G299G	SLC8A3_uc001xlw.3_Silent_p.G299G|SLC8A3_uc001xlx.3_Silent_p.G299G|SLC8A3_uc001xlz.3_Silent_p.G299G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	299					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCACCAGGTTCCCATCTAGAA	0.488000														16			9		0	0	0.00136819	0	0
BC107108	0	broad.mit.edu	37	15	20362839	20362839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:20362839G>A	uc001yte.1	+	0	152	c.101G>A	c.(100-102)gGa>gAa	p.G34E						RecName: Full=Putative BMS1-like protein ENSP00000383088;																		AACAGCGAGGGAAATGTTGGA	0.498000														25			9		0	0	0.000673444	0	0
GJB5	2709	broad.mit.edu	37	1	35223138	35223138	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:35223138C>T	uc001bxu.3	+	1	307	c.207C>T	c.(205-207)ttC>ttT	p.F69F	GJB5_uc021okz.1_Silent_p.F69F|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	69					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ATGAGTTCTTCCCTGTGTCCC	0.602000														43			30		0	0	0.00178596	0	0
SOGA2	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:8718506C>T	uc002knr.2	+	2	200	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SOGA2_uc002knq.2_Missense_Mutation_p.R20W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	371																	GCAGGAACTTCGGCGAGAACT	0.488000														42			17		0	0	0.00152264	0	0
BUB1B	701	broad.mit.edu	37	15	40476063	40476063	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:40476063C>T	uc001zkx.4	+	5	942	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	BUB1B_uc010ucl.1_Missense_Mutation_p.R107C	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	244					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R244S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCCAATCATCCGTGTAGGAGG	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					24			12		0	0	0.00185496	0	0
ANK2	287	broad.mit.edu	37	4	114275374	114275374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:114275374C>T	uc003ibe.4	+	37	5700	c.5600C>T	c.(5599-5601)tCa>tTa	p.S1867L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1882L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1834	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGACATTCACCTGCGTCA	0.443000														54			21		0	0	0.000375601	0	0
CEL	1056	broad.mit.edu	37	9	135940432	135940433	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:135940432_135940433CG>AT	uc010naa.1	+	3	371_372	c.355_356CG>AT	c.(355-357)cgg>ATg	p.R119M		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	116	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTCAGTCTCCCGGGACCTGCCC	0.658000														264			9		0	0	6.4e-05	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77255678G>A	uc001xsv.3	-	9	2019	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	636										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562000														61			35		0	0	0.00170553	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554139	140554139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140554139C>T	uc003lit.3	+	0	1897	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	575	Cadherin 6.		P -> L (in dbSNP:rs13189280).		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)			CTGCACCGAGCCGTTGCCCCG	0.701000														65			16		0	0	0.000308642	0	0
CTBP2	1488	broad.mit.edu	37	10	126681771	126681771	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:126681771C>T	uc009yak.3	-	9	1326	c.1039_splice	c.e9+1	p.G347_splice	CTBP2_uc009yal.3_Splice_Site_p.G347_splice|CTBP2_uc001lif.4_Splice_Site_p.G347_splice|CTBP2_uc001lih.4_Splice_Site_p.G347_splice|CTBP2_uc001lid.4_Splice_Site_p.G415_splice|CTBP2_uc001lie.4_Splice_Site_p.G887_splice	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	347					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGGGCTCACCTGTGATGGCT	0.637000														7			9		0	0	0.000274275	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310397	61310397	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:61310397G>A	uc002ljf.3	-	2	306	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	SERPINB3_uc002lje.3_Missense_Mutation_p.H74Y|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	74					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.Y73C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGACTCACATGATATGTTGCA	0.408000														0			4		0	0	0.00116845	0	0
GABPB2	126626	broad.mit.edu	37	1	151065782	151065782	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:151065782C>T	uc001ewr.2	+	3	722	c.391C>T	c.(391-393)Cat>Tat	p.H131Y	GABPB2_uc010pcp.1_Missense_Mutation_p.H147Y|GABPB2_uc001ewt.2_Missense_Mutation_p.H30Y	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	131					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	p.V130V(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGCTGATGTCCATGCTTTCAG	0.433000														43			28		0	0	0.00106085	0	0
HOXC11	3227	broad.mit.edu	37	12	54367499	54367499	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:54367499C>T	uc001sem.3	+	0	590	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	158					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A158A(1)		large_intestine(1)|ovary(1)	2						TCGACAACGCCTACTGCGGTG	0.716000			T	NUP98	AML									57			16		0	0	0.000308642	0	0
C9orf117	286207	broad.mit.edu	37	9	130475045	130475045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:130475045G>A	uc004brn.1	+	6	1235	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	399										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATGGCACAAGGAGATGCTGCA	0.622000														48			11		0	0	0.000978159	0	0
WIPI2	26100	broad.mit.edu	37	7	5262246	5262246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:5262246G>A	uc003snv.3	+	7	899	c.683G>A	c.(682-684)aGg>aAg	p.R228K	WIPI2_uc003snw.3_Missense_Mutation_p.R228K|WIPI2_uc003snx.3_Missense_Mutation_p.R210K|WIPI2_uc003sny.3_Missense_Mutation_p.R210K|WIPI2_uc010ksv.3_Missense_Mutation_p.R84K|WIPI2_uc003soa.3_Missense_Mutation_p.R169K	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	228					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		ACCGTGATTAGGGTATTTTCC	0.418000														271			117		0	0	0.000781405	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123216103	123216103	+	Silent	SNP	G	A	A	rs79089953	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:123216103G>A	uc004bkf.3	-	20	2605	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	CDK5RAP2_uc004bke.3_Silent_p.F93F|CDK5RAP2_uc004bkg.3_Silent_p.F808F|CDK5RAP2_uc011lxw.2_Silent_p.F73F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.F73F|CDK5RAP2_uc011lya.2_Silent_p.F73F|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Silent_p.F575F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	808					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTCTGTCAAGAATAGTTGTC	0.448000														53			33		0	0	0.00148497	0	0
CELSR1	9620	broad.mit.edu	37	22	46776824	46776824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:46776824G>A	uc003bhw.1	-	21	7117	c.7117C>T	c.(7117-7119)Ccg>Tcg	p.P2373S	CELSR1_uc011arc.1_Missense_Mutation_p.P694S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2373					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCACCATCGGGGTATTAATG	0.612000														20			4		0	0	0.00024832	0	0
GRB7	2886	broad.mit.edu	37	17	37899717	37899717	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:37899717C>T	uc002hsr.3	+	5	932	c.657C>T	c.(655-657)ctC>ctT	p.L219L	GRB7_uc002hss.3_Silent_p.L219L|GRB7_uc021twu.1_Silent_p.L242L|GRB7_uc010cwc.3_Silent_p.L219L|GRB7_uc002hst.3_Silent_p.L219L	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	219					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGAAGACCTCATCCAGGTGG	0.547000														54			19		0	0	0.00121646	0	0
MYO1F	4542	broad.mit.edu	37	19	8620618	8620618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8620618C>T	uc002mkg.3	-	1	204	c.66G>A	c.(64-66)atG>atA	p.M22I	MYO1F_uc010xkf.2_Missense_Mutation_p.M22I	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	22	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAAGAAGCACCATGTCATCCA	0.637000														54			19		0	0	0.00188189	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218946	42218946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:42218946G>A	uc002orl.3	+	2	602	c.481G>A	c.(481-483)Gat>Aat	p.D161N	CEACAM5_uc010ehz.1_Missense_Mutation_p.D161N|CEACAM5_uc002orj.1_Missense_Mutation_p.D161N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	161	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGAGGACAAGGATGCTGTGGC	0.572000														134			54		0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170019101	170019101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170019101G>A	uc002ues.3	-	62	11981	c.11768C>T	c.(11767-11769)cCg>cTg	p.P3923L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3923					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAGGGGTCGGTTTTCTACC	0.383000														29			16		0	0	0.000422831	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622461	41622461	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:41622461G>T	uc002opu.1	+	2	329	c.273G>T	c.(271-273)caG>caT	p.Q91H	CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.Q91H|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	91					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGGTGGACCAGGGAGAGGAGT	0.587000														32			22		2.37509e-13	1.42326e-12	0.00152264	1	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58125899G>A	uc010rke.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000														9			5		0	0	0.00116845	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840821	20840822	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:20840821_20840822CC>AA	uc002rdw.1	-	2	358_359	c.317_318GG>TT	c.(316-318)cgg>cTT	p.R106L	HS1BP3_uc002rdx.3_Missense_Mutation_p.R106L|HS1BP3_uc002rdy.3_Missense_Mutation_p.R106L	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	106	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCCTCTCCCGGATGTCAGA	0.559000														224			9		0	0	6.4e-05	0	0
CCDC129	223075	broad.mit.edu	37	7	31611731	31611731	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:31611731T>C	uc011kae.2	+	5	414	c.402T>C	c.(400-402)ttT>ttC	p.F134F	CCDC129_uc011kad.1_Silent_p.F118F|CCDC129_uc003tcj.1_Silent_p.F108F|CCDC129_uc003tci.1_Silent_p.F107F|CCDC129_uc003tck.1_Silent_p.F16F	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	108										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGCATCAGTTTTCAGAAACTC	0.408000														9			8		0	0	0.000673444	0	0
GPR98	84059	broad.mit.edu	37	5	89923146	89923146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:89923146G>A	uc003kju.3	+	6	887	c.791G>A	c.(790-792)aGa>aAa	p.R264K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	264					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTCCCGTGAGATTCCTTCAG	0.363000														64			30		0	0	0.001512	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128872	3128872	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:3128872A>G	uc021vzx.1	-	0	845	c.845T>C	c.(844-846)gTt>gCt	p.V282A	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.V282A	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	282					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTAAGTGAACTAGCTGAGA	0.343000														83			15		0	0	0.000566183	0	0
SPNS1	83985	broad.mit.edu	37	16	28994599	28994599	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:28994599C>T	uc010vdi.1	+	10	1448	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Silent_p.Y363Y|SPNS1_uc002dsa.2_Silent_p.Y436Y|SPNS1_uc002drz.2_Silent_p.Y384Y|SPNS1_uc010byp.2_Silent_p.Y362Y|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	436					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGAGCCCCTACCTCATTGGCC	0.612000														41			27		0	0	0.000339439	0	0
DDC	1644	broad.mit.edu	37	7	50605614	50605614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:50605614C>T	uc003tpg.4	-	3	580	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.E127K|DDC_uc022adb.1_Missense_Mutation_p.E89K|DDC_uc022adc.1_Missense_Mutation_p.E127K|DDC_uc022add.1_Missense_Mutation_p.E127K|DDC_uc022adf.1_Missense_Mutation_p.E127K|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	127	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.E127*(3)|p.E127S(3)|p.E127A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTTGGTAGTTCCAGCATCTTC	0.567000														66			11		0	0	0.000673444	0	0
GABRB1	2560	broad.mit.edu	37	4	47322220	47322220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:47322220G>A	uc003gxh.3	+	4	912	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	GABRB1_uc011bze.2_Missense_Mutation_p.E110K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	180					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTGGAGATCGAAAGTTGTGA	0.423000														37			13		0	0	0.00136819	0	0
FRMD4A	55691	broad.mit.edu	37	10	13743453	13743453	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:13743453C>A	uc001ims.3	-	13	1214	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	FRMD4A_uc009xjf.1_Missense_Mutation_p.G288W|FRMD4A_uc001imt.1_Missense_Mutation_p.G321W|FRMD4A_uc001imu.1_Missense_Mutation_p.G304W	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	288	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGCTGTGCCCAAACGTCCTC	0.498000														107			5		0.00116845	0.0068918	0.00116845	1	0
SLIT2	9353	broad.mit.edu	37	4	20619119	20619119	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:20619119G>A	uc003gpr.1	+	35	4398	c.4194G>A	c.(4192-4194)ttG>ttA	p.L1398L	SLIT2_uc003gps.1_Silent_p.L1390L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1398					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTAAGTGCTTGGAGGGCCATG	0.532000														11			8		0	0	0.000274275	0	0
CACNG7	59284	broad.mit.edu	37	19	54418660	54418660	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54418660T>C	uc002qcr.2	+	2	420	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L	CACNG7_uc010era.2_Missense_Mutation_p.F109L	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	109					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGTCAGCCTCTTCCTCGTGTT	0.607000														49			17		0	0	0.00121646	0	0
RAG2	5897	broad.mit.edu	37	11	36614842	36614842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:36614842C>T	uc021qge.1	-	0	877	c.877G>A	c.(877-879)Gag>Aag	p.E293K	RAG2_uc021qgc.1_Missense_Mutation_p.E293K|RAG2_uc021qgd.1_Missense_Mutation_p.E293K|RAG2_uc001mwv.4_Missense_Mutation_p.E293K|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	293			E -> G (in dbSNP:rs16929093).		T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGTTGTCCTCTAAAGAGATG	0.398000									Familial Hemophagocytic Lymphohistiocytosis					70			42		0	0	0.000437636	0	0
SZT2	23334	broad.mit.edu	37	1	43909455	43909455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:43909455C>T	uc001cjk.2	+	60	8726	c.6116C>T	c.(6115-6117)tCa>tTa	p.S2039L	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2938						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGGCCCCCCTCACCCGCCCGC	0.582000														72			49		0	0	0.000781405	0	0
HECW2	57520	broad.mit.edu	37	2	197090531	197090531	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:197090531G>A	uc002utm.1	-	22	4164	c.3981C>T	c.(3979-3981)ttC>ttT	p.F1327F	HECW2_uc002utl.1_Silent_p.F971F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1327	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCGTGTGAAGAAGGCATCCA	0.373000														30			14		0	0	0.000566183	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870659	140870659	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140870659C>T	uc003lla.2	+	0	1852	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.L618L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	618	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAGGACTGTTCCTCGT	0.602000														40			18		0	0	0.000958276	0	0
CLCC1	23155	broad.mit.edu	37	1	109477513	109477514	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:109477513_109477514CC>AA	uc021ora.1	-	9	1445_1446	c.1434_1435GG>TT	c.(1432-1437)ctgggg>ctTTgg	p.G479W	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.G429W|CLCC1_uc001dwf.1_Missense_Mutation_p.G479W|CLCC1_uc009wes.1_Missense_Mutation_p.G358W|CLCC1_uc009wet.1_Missense_Mutation_p.G294W	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	479						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GTGCCTTCCCCCAGGATTCCAC	0.450000														636			12		0	0	6.4e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44128598	44128599	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:44128598_44128599GG>TT	uc002rtr.2	-	31	3487_3488	c.3429_3430CC>AA	c.(3427-3432)acccgt>acAAgt	p.R1144S	LRPPRC_uc010yob.1_Missense_Mutation_p.R1044S	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1144	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding	p.R1144S(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGATGACACGGGTCACTGCTA	0.421000														752			21		0	0	6.4e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12311888	12311889	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:12311888_12311889CC>AA	uc001rah.4	-	11	2807_2808	c.2665_2666GG>TT	c.(2665-2667)ggg>TTg	p.G889L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G889L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	889	Beta-propeller 3.|EGF-like 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTCATTCCACCCTGACTGTCGA	0.525000														643			11		0	0	6.4e-05	0	0
ROBO2	6092	broad.mit.edu	37	3	77607202	77607202	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:77607202C>T	uc011bgk.2	+	9	1994	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	ROBO2_uc021xat.1_Missense_Mutation_p.P463S|ROBO2_uc003dpy.4_Missense_Mutation_p.P447S|ROBO2_uc003dpz.3_Missense_Mutation_p.P451S|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	447	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGATCCTCTTCCTGTAATTAG	0.453000														16			4		0	0	0.00024832	0	0
COL9A3	1299	broad.mit.edu	37	20	61471990	61471991	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:61471990_61471991GG>AA	uc002ydm.3	+	31	1964_1965	c.1961_1962GG>AA	c.(1960-1962)ggg>gAA	p.G654E	COL9A3_uc002ydn.3_Missense_Mutation_p.G148E	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	654	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTGCCATTGGGGCCCAGGGGA	0.653000														11			9		0	0	6.4e-05	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147817	27147817	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:27147817C>T	uc002rhu.4	+	2	482	c.324C>T	c.(322-324)tcC>tcT	p.S108S	DPYSL5_uc002rhv.4_Silent_p.S108S|DPYSL5_uc021vev.1_Silent_p.S108S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	108					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGACCTCCCTTGTGGACG	0.617000														34			9		0	0	0.000442599	0	0
CSMD1	64478	broad.mit.edu	37	8	2910111	2910111	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:2910111G>A	uc022aqr.1	-	49	7923	c.7533C>T	c.(7531-7533)ttC>ttT	p.F2511F	CSMD1_uc011kwj.2_Silent_p.F1841F|CSMD1_uc010lrg.3_Silent_p.F580F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2512	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCCAAAGTGAACTCGTTCC	0.448000														9			4		0	0	0.00116845	0	0
MAP3K5	4217	broad.mit.edu	37	6	136958507	136958507	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:136958507C>T	uc003qhc.3	-	13	2333	c.1972G>A	c.(1972-1974)Ggg>Agg	p.G658R	MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.G503R	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	658					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTGCTTCTCCCCTTCTCTTCG	0.373000														37			7		0	0	0.000274275	0	0
CCNF	899	broad.mit.edu	37	16	2485844	2485844	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2485844C>T	uc002cqd.1	+	3	404	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	106					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGCTGTGAAGCTGGGCATAGC	0.458000														54			11		0	0	0.00074312	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717047	222717048	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:222717047_222717048CC>AA	uc001hnh.1	-	1	863_864	c.805_806GG>TT	c.(805-807)ggg>TTg	p.G269L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	269					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCTCTCATCCCCGATCCATGGG	0.525000														635			13		0	0	6.4e-05	0	0
TRPM2	7226	broad.mit.edu	37	21	45855065	45855065	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:45855065C>T	uc010gpt.1	+	28	4276	c.4176C>T	c.(4174-4176)ttC>ttT	p.F1392F	TRPM2_uc002zet.1_Silent_p.F1342F|TRPM2_uc002zeu.1_Silent_p.F1342F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F1342F|TRPM2_uc002zex.1_Silent_p.F1128F|TRPM2_uc002zey.1_Silent_p.F821F|TRPM2_uc011aff.1_Silent_p.F23F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1342	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCAGCTGCTTCGGACCCAACC	0.662000														49			35		0	0	0.00111076	0	0
PCDH19	57526	broad.mit.edu	37	X	99551604	99551604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:99551604C>T	uc010nmz.3	-	5	4794	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	PCDH19_uc004efw.4_Missense_Mutation_p.D992N|PCDH19_uc004efx.4_Missense_Mutation_p.D993N	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1040					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATGGTCACATCGACAGTCCTC	0.602000														10			15		0	0	0.000219431	0	0
ASB15	142685	broad.mit.edu	37	7	123267276	123267276	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:123267276T>G	uc003vku.1	+	8	1102	c.810T>G	c.(808-810)aaT>aaG	p.N270K	ASB15_uc003vkv.1_Missense_Mutation_p.N270K|ASB15_uc003vkw.1_Missense_Mutation_p.N270K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	270					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCGGAAATGTACCTAACC	0.483000														22			12		0	0	0.000978159	0	0
NFATC1	4772	broad.mit.edu	37	18	77170939	77170939	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:77170939C>T	uc010xfg.2	+	1	1117	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	NFATC1_uc002lnc.1_Missense_Mutation_p.P222S|NFATC1_uc010xff.1_Missense_Mutation_p.P222S|NFATC1_uc002lnd.3_Missense_Mutation_p.P222S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P222S|NFATC1_uc010xfi.1_Missense_Mutation_p.P209S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P209S|NFATC1_uc002lng.3_Missense_Mutation_p.P209S|NFATC1_uc010xfk.2_Missense_Mutation_p.P209S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	222	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R222R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGAGGGCTTTCCCCGCGGGCT	0.706000														35			17		0	0	0.00074312	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527078	64527079	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:64527078_64527079CC>AA	uc003dmg.3	-	34	5336_5337	c.5304_5305GG>TT	c.(5302-5307)gcgggg>gcTTgg	p.G1769W	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G1741W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G680W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1769	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1768A(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGTGCATCCCCGCACAGAATA	0.465000														339			12		0	0	6.4e-05	0	0
EXD1	161829	broad.mit.edu	37	15	41476729	41476729	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41476729C>T	uc010ucv.2	-	11	1391	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	EXD1_uc001znj.3_Silent_p.R113R|EXD1_uc001znk.3_Silent_p.R315R	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	315					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CAGCTTTCTCCCTGCGCTGCT	0.458000														61			31		0	0	0.001512	0	0
FAM153A	285596	broad.mit.edu	37	5	177161911	177161911	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:177161911C>T	uc010jkp.1	-	13	878	c.457G>A	c.(457-459)Gag>Aag	p.E153K	FAM153A_uc021yix.1_Intron|FAM153A_uc003mib.1_Non-coding_Transcript|FAM153A_uc003mic.3_Missense_Mutation_p.E153K	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Homo sapiens family with sequence similarity 153, member A (FAM153A), mRNA.	153										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGACAGCTCCTGAAGTACA	0.483000														12			9		0	0	0.00185496	0	0
CAPN13	92291	broad.mit.edu	37	2	30966384	30966384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:30966384G>A	uc021vfn.1	-	11	1342	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.S433L|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	437					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTATTATTTGAGCTTTGGAC	0.458000														115			63		0	0	0.000781405	0	0
GSDMC	56169	broad.mit.edu	37	8	130765052	130765052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:130765052C>T	uc003ysr.3	-	6	1618	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	246						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						cctaccatttcggaaatttcg	0.473000														66			26		0	0	0.000586117	0	0
AP1G2	8906	broad.mit.edu	37	14	24034858	24034858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24034858G>A	uc001wkl.2	-	6	1035	c.698C>T	c.(697-699)tCc>tTc	p.S233F	AP1G2_uc001wkk.3_Missense_Mutation_p.S161F|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.S233F|AP1G2_uc010aks.3_Missense_Mutation_p.S161F|AP1G2_uc010akt.3_Missense_Mutation_p.S161F|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	233					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTGTTCTGTGGAGTATCCCAT	0.552000														24			17		0	0	0.00152264	0	0
RPAP1	26015	broad.mit.edu	37	15	41819387	41819387	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41819387T>C	uc001zod.3	-	12	1848	c.1724A>G	c.(1723-1725)cAt>cGt	p.H575R		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	575						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCCAGGGAATGCCGGGCCAG	0.607000														30			17		0	0	0.000958276	0	0
ASH1L	55870	broad.mit.edu	37	1	155449607	155449607	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:155449607G>A	uc009wqq.3	-	2	3534	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	ASH1L_uc001fkt.3_Silent_p.L1018L|ASH1L_uc009wqr.1_Silent_p.L1018L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1018					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCGTATTATGGAGTTTGGATT	0.338000														35			16		0	0	0.00074312	0	0
RP1	6101	broad.mit.edu	37	8	55541018	55541018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:55541018G>A	uc003xsd.1	+	3	4724	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1526					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1526K(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATAATTTATGAAATAATCAG	0.318000														48			10		0	0	0.000442599	0	0
PRKCH	5583	broad.mit.edu	37	14	61920070	61920070	+	Splice_Site	SNP	C	T	T	rs141322283		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:61920070C>T	uc001xfn.3	+	7	1265	c.960_splice	c.e7+1	p.S320_splice	PRKCH_uc010tsa.2_Splice_Site_p.S159_splice	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	320					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCTCCAACCTCGGTGAGACTT	0.483000														26			6		0	0	8.12818e-05	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459714	107459714	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:107459714C>T	uc002tdq.3	-	1	839	c.720G>A	c.(718-720)ggG>ggA	p.G240G	ST6GAL2_uc002tdr.3_Silent_p.G240G|ST6GAL2_uc002tds.3_Silent_p.G240G	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTCCCGCTTCCCGCGGAAGC	0.677000														5			4		0	0	0.00024832	0	0
ALDOB	229	broad.mit.edu	37	9	104189790	104189790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:104189790C>T	uc004bbk.2	-	4	596	c.514G>A	c.(514-516)Gct>Act	p.A172T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	172					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCGTAGCGAGCCAGGGCGTTG	0.517000														35			14		0	0	0.000422831	0	0
HDAC7	51564	broad.mit.edu	37	12	48191897	48191897	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:48191897G>A	uc010slo.2	-	4	650	c.455C>T	c.(454-456)cCc>cTc	p.P152L	HDAC7_uc001rqj.4_Missense_Mutation_p.P152L|HDAC7_uc001rqk.4_Missense_Mutation_p.P135L|HDAC7_uc009zkv.1_Missense_Mutation_p.P113L	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	113	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TTACCTGTAGGGAATGCCGGG	0.597000														160			123		0	0	0.000781405	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789022	1789022	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1789022G>A	uc002ltw.3	-	23	3177	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L	ATP8B3_uc002ltv.3_Silent_p.L944L|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	981					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCAGCAGGAGGCGCTGCA	0.637000														15			4		0	0	0.00024832	0	0
APOF	319	broad.mit.edu	37	12	56755826	56755826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:56755826G>A	uc001sle.1	-	1	218	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	55					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGGTGTCTGGGATTCCAAGGA	0.522000														70			54		0	0	0.000781405	0	0
JAZF1	221895	broad.mit.edu	37	7	27880345	27880346	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:27880345_27880346GG>TT	uc003szn.3	-	3	767_768	c.526_527CC>AA	c.(526-528)cca>AAa	p.P176K	JAZF1_uc003szm.3_Missense_Mutation_p.P112K	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCCAGGAACTGGGCAGGCAAAA	0.530000			T	SUZ12	endometrial stromal tumours									718			13		0	0	6.4e-05	0	0
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	RNA	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:11012923T>C	uc002yis.1	-	8		c.1698A>G						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCTAGCTTTTTTACTTTT	0.289000														18			6		0	0	8.12818e-05	0	0
WDR47	22911	broad.mit.edu	37	1	109538320	109538321	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:109538320_109538321GG>TT	uc001dwl.3	-	7	1972_1973	c.1596_1597CC>AA	c.(1594-1599)ccccaa>ccAAaa	p.Q533K	WDR47_uc001dwi.3_Missense_Mutation_p.Q526K|WDR47_uc001dwj.3_Missense_Mutation_p.Q525K|WDR47_uc001dwk.2_Missense_Mutation_p.Q497K|WDR47_uc010ovf.2_Missense_Mutation_p.Q452K	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAGTCTTGGGGTGGTGTAG	0.416000														760			10		0	0	6.4e-05	0	0
LRP1B	53353	broad.mit.edu	37	2	141777559	141777559	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:141777559C>T	uc002tvj.1	-	11	2874	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	634					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTCCGACTCTGAGAAGCTT	0.418000										TSP Lung(27;0.18)				11			8		0	0	0.000442599	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408470	98408470	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:98408470G>A	uc001kmq.3	-	6	1259	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PIK3AP1_uc001kmp.3_Silent_p.T199T	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	377						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCAGCGATGGTGTTGGGGT	0.577000														15			11		0	0	0.00136819	0	0
STOX1	219736	broad.mit.edu	37	10	70645727	70645727	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70645727G>A	uc001jos.2	+	2	2262	c.2175G>A	c.(2173-2175)gtG>gtA	p.V725V	STOX1_uc001joq.3_Silent_p.V615V|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.V615V	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	725						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGAAGTGGAAGATGATG	0.413000														31			21		0	0	0.00188189	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213034	26213034	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:26213034C>T	uc022buc.1	+	0	1071	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	MAGEB6_uc004dbr.3_Silent_p.F357F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	357	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCTATGAGTTCCTGTGGGGTC	0.502000														20			40		0	0	0.000781405	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	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														67			15		0	0	0.000422831	0	0
TRIM51	84767	broad.mit.edu	37	11	55655577	55655577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55655577G>A	uc010rip.2	+	3	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	TRIM51_uc010riq.2_Missense_Mutation_p.E50K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	193						intracellular	zinc ion binding										TCTCCATGAAGAAGAGCAACA	0.413000														8			3		0	0	6.4e-05	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141957	133141957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:133141957C>T	uc003ytj.3	-	14	2396	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E	KCNQ3_uc003yti.3_Missense_Mutation_p.G604E|KCNQ3_uc010mdt.3_Missense_Mutation_p.G712E	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	724					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAACTGGGTCCCCCTCGGGG	0.577000														24			14		0	0	0.000219431	0	0
DNAH10	196385	broad.mit.edu	37	12	124268613	124268613	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:124268613C>T	uc001uft.4	+	7	961	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	312	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAAGGAATCCGACTCCATGC	0.468000														71			48		0	0	0.000781405	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36375000	36375000	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:36375000G>A	uc021wdj.1	+	3	548	c.457G>A	c.(457-459)Gat>Aat	p.D153N	CTNNBL1_uc002xhh.3_5'UTR|CTNNBL1_uc021wdi.1_Missense_Mutation_p.D126N	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	153					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCTCGGACACGATAATACAGA	0.507000														28			18		0	0	0.00121646	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222135	140222135	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140222135A>T	uc003lhs.2	+	0	1229	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D410V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	424	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGCTGGACAGCGCCCTG	0.627000														189			40		0	0	0.000680045	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457016	110457016	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457016C>T	uc003yne.3	+	37	5022	c.4918C>T	c.(4918-4920)Ctg>Ttg	p.L1640L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1640	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1639I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTCTACAACCTGGGCACTGC	0.413000										HNSCC(38;0.096)				168			67		0	0	0.000781405	0	0
BROX	148362	broad.mit.edu	37	1	222904845	222904846	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:222904845_222904846CC>AA	uc001hnq.1	+	11	1531_1532	c.1136_1137CC>AA	c.(1135-1137)ccc>cAA	p.P379Q	BROX_uc010put.1_Missense_Mutation_p.P347Q|BROX_uc010puu.1_Intron|BROX_uc010puv.1_Missense_Mutation_p.P347Q|AK094916_uc001hnr.1_Intron|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	379	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						ACCAAAAGACCCAAGGATGACA	0.356000														287			10		0	0	6.4e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73848543	73848543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:73848543C>T	uc003xzb.3	+	2	1541	c.953C>T	c.(952-954)tCg>tTg	p.S318L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	318					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)			GCCAGGCATTCGACAGGCCTG	0.512000														36			28		0	0	0.000720815	0	0
FXR1	8087	broad.mit.edu	37	3	180685857	180685857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:180685857C>T	uc003fkq.3	+	13	1457	c.1217C>T	c.(1216-1218)tCt>tTt	p.S406F	FXR1_uc003fkp.3_Missense_Mutation_p.S321F|FXR1_uc003fkr.3_Missense_Mutation_p.S406F|FXR1_uc011bqj.2_Missense_Mutation_p.S320F|FXR1_uc003fks.3_Missense_Mutation_p.S349F|FXR1_uc011bqk.2_Missense_Mutation_p.S357F|FXR1_uc011bql.2_Missense_Mutation_p.S393F	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	406					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTGAGCTGTCTAACCCCTCT	0.398000														59			14		0	0	0.00074312	0	0
FAT4	79633	broad.mit.edu	37	4	126328139	126328139	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126328139G>A	uc003ifj.4	+	2	5412	c.5412G>A	c.(5410-5412)agG>agA	p.R1804R	FAT4_uc011cgp.2_Silent_p.R102R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1804	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTGGACAGGGAACGCCGCT	0.458000														18			15		0	0	0.000566183	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762620	24762620	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:24762620A>G	uc001iru.4	+	5	1713	c.1310A>G	c.(1309-1311)aAc>aGc	p.N437S	KIAA1217_uc001irs.3_Missense_Mutation_p.N357S|KIAA1217_uc001irt.4_Missense_Mutation_p.N437S|KIAA1217_uc010qcy.2_Missense_Mutation_p.N437S|KIAA1217_uc010qcz.2_Missense_Mutation_p.N437S|KIAA1217_uc001irv.1_Missense_Mutation_p.N287S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.N155S|KIAA1217_uc001irz.3_Missense_Mutation_p.N155S|KIAA1217_uc001irx.3_Missense_Mutation_p.N155S|KIAA1217_uc001iry.3_Missense_Mutation_p.N155S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	437					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTTATTGTAACCCCTCAATG	0.498000														45			8		0	0	0.000157383	0	0
DACH1	1602	broad.mit.edu	37	13	72063265	72063265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:72063265G>A	uc021rkj.1	-	6	2015	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	DACH1_uc021rkk.1_Missense_Mutation_p.S383F|DACH1_uc021rkl.1_Missense_Mutation_p.S329F	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTTGGTGTAGAAAGCGGGGT	0.443000														121			72		0	0	0.000781405	0	0
RHBDF1	64285	broad.mit.edu	37	16	112805	112806	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:112805_112806GG>AA	uc002cfl.4	-	5	905_906	c.762_763CC>TT	c.(760-765)ttcccc>ttTTcc	p.P255S	RHBDF1_uc010uty.2_Missense_Mutation_p.P278S|RHBDF1_uc010utz.2_Missense_Mutation_p.P255S|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	255					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTCATCGGGGAAATCAGTTG	0.624000														56			15		0	0	6.4e-05	0	0
WWC1	23286	broad.mit.edu	37	5	167891912	167891913	+	Missense_Mutation	DNP	AG	CC	CC			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:167891912_167891913AG>CC	uc003lzu.3	+	20	3188_3189	c.3095_3096AG>CC	c.(3094-3096)cag>cCC	p.Q1032P	WWC1_uc003lzv.3_Missense_Mutation_p.Q1038P|WWC1_uc011den.2_Missense_Mutation_p.Q1038P|WWC1_uc003lzw.3_Missense_Mutation_p.Q831P|WWC1_uc010jjf.1_Missense_Mutation_p.Q304P	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1032	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTGCCACAGTGGTTGCGTG	0.619000														55			13		0	0	6.4e-05	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142919780C>T	uc011ksx.2	+	0	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000														39			27		0	0	0.00127121	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														39			12		0	0	0.000586117	0	0
RDBP	7936	broad.mit.edu	37	6	31921601	31921602	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31921601_31921602CC>AA	uc003nyk.3	-	9	1153_1154	c.949_950GG>TT	c.(949-951)ggg>TTg	p.G317L	RDBP_uc011dot.2_Missense_Mutation_p.G287L	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	317	RRM.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CACCTGGGTCCCGTTGAGCTGA	0.525000														299			9		0	0	6.4e-05	0	0
ILDR1	286676	broad.mit.edu	37	3	121712700	121712700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:121712700G>A	uc003ees.3	-	6	1099	c.896C>T	c.(895-897)gCc>gTc	p.A299V	ILDR1_uc003eeq.3_Missense_Mutation_p.A267V|ILDR1_uc003eer.3_Missense_Mutation_p.A255V|ILDR1_uc010hrg.3_Missense_Mutation_p.A210V	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	299						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAGAGGCTGGGCCAGGTTGAG	0.587000														47			11		0	0	0.000978159	0	0
CHRND	1144	broad.mit.edu	37	2	233396072	233396072	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:233396072G>A	uc002vsw.3	+	7	835	c.831G>A	c.(829-831)aaG>aaA	p.K277K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Silent_p.K262K|CHRND_uc010zmh.2_Silent_p.K83K	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	277					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTGGTGAGAAGACATCAGTGG	0.617000														36			13		0	0	0.000219431	0	0
TNXB	7148	broad.mit.edu	37	6	32023668	32023668	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32023668C>T	uc003nzl.2	-	23	8629	c.8427G>A	c.(8425-8427)gaG>gaA	p.E2809E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2867	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCCGCCCCTCGTGGAGGC	0.627000														150			85		0	0	0.000781405	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040863	5040863	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:5040863C>T	uc002cye.2	+	4	621	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	147	PRELI/MSF1.					integral to membrane|intracellular	transporter activity	p.K146N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGAGAAGATCGCCATGAAGC	0.522000														14			8		0	0	0.000274275	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629945	8629945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:8629945C>T	uc001qum.1	+	5	632	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	172	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CCCAATCATTCTGCAGAGCAA	0.378000														47			5		0	0	0.000157383	0	0
REXO1	57455	broad.mit.edu	37	19	1825933	1825933	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1825933C>T	uc002lua.4	-	2	2016	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K		NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	641						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTCTCTTCCTTGGGGGGC	0.597000														38			25		0	0	0.000586117	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727348	42727348	+	Missense_Mutation	SNP	G	A	A	rs144461124	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:42727348G>A	uc003clv.1	+	0	338	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	80	BTB.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTGTCCCCGGACGTGGTGGC	0.677000														30			6		0	0	0.00116845	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843440	131843440	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:131843440C>T	uc004bxc.3	+	0	58	c.30C>T	c.(28-30)ccC>ccT	p.P10P	DOLPP1_uc004bxd.3_Silent_p.P10P|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	10					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GCTCGCTCCCCGCTTCATGGC	0.662000														67			18		0	0	0.00188189	0	0
PRB1	5542	broad.mit.edu	37	12	11506664	11506664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:11506664C>T	uc001qzw.1	-	2	410	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	125	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGTTGCCTCCTTGTGGGGGT	0.602000														442			34		0	0	0.00128727	0	0
COL5A1	1289	broad.mit.edu	37	9	137716449	137716449	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:137716449C>T	uc004cfe.3	+	61	5084	c.4702C>T	c.(4702-4704)Ccc>Tcc	p.P1568S	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1568	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCAGGGCCCCCCGGGAGA	0.657000														21			11		0	0	0.000978159	0	0
ANGPT4	51378	broad.mit.edu	37	20	860423	860423	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:860423C>T	uc002wei.3	-	5	1123	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	ANGPT4_uc010zpn.2_Silent_p.V334V	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGAAAATTCACGGTGCCAT	0.612000														53			24		0	0	0.000878237	0	0
ADAM18	8749	broad.mit.edu	37	8	39467040	39467040	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39467040C>T	uc003xni.3	+	4	359	c.304C>T	c.(304-306)Cca>Tca	p.P102S	ADAM18_uc003xnh.3_Missense_Mutation_p.P102S|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P102S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	102					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCCGAATTTCCAAATTCATT	0.318000														16			6		0	0	8.12818e-05	0	0
STON2	85439	broad.mit.edu	37	14	81744156	81744156	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:81744156C>T	uc010tvu.2	-	3	1697	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	STON2_uc001xvk.1_Missense_Mutation_p.R500Q|STON2_uc010tvt.2_Missense_Mutation_p.R297Q	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	500	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGGTCTATCCGCAAGCTGTG	0.488000														66			43		0	0	0.000437636	0	0
HIF1A	3091	broad.mit.edu	37	14	62200959	62200959	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:62200959G>A	uc001xfq.2	+	7	1388	c.984G>A	c.(982-984)aaG>aaA	p.K328K	HIF1A_uc001xfr.2_Silent_p.K328K|HIF1A_uc001xfs.2_Silent_p.K329K|HIF1A_uc021rua.1_Silent_p.K352K	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	328	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATAACACCAAGAATTCTCAAC	0.373000														28			10		0	0	0.000978159	0	0
LPHN2	23266	broad.mit.edu	37	1	82456404	82456404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:82456404C>T	uc001dit.4	+	20	3968	c.3787C>T	c.(3787-3789)Cat>Tat	p.H1263Y	LPHN2_uc001dis.3_Missense_Mutation_p.H243Y|LPHN2_uc001diu.3_Missense_Mutation_p.H1263Y|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.H890Y	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1319					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)		GCTGGAGCTCCATCACAAAGA	0.502000														38			13		0	0	0.000422831	0	0
PCK2	5106	broad.mit.edu	37	14	24573072	24573072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24573072C>T	uc001wlt.3	+	9	1954	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Missense_Mutation_p.R474C|PCK2_uc010tnx.2_Missense_Mutation_p.R474C|PCK2_uc001wlu.4_Missense_Mutation_p.R442C	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	608					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ACAGGAGGTTCGTGACATTCG	0.562000														79			15		0	0	0.000219431	0	0
ZNF713	349075	broad.mit.edu	37	7	56007333	56007333	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:56007333C>T	uc003tra.2	+	6	1773	c.966C>T	c.(964-966)gcC>gcT	p.A322A	ZNF713_uc003trc.1_Silent_p.A309A	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGGAAAGCCTTCCGTCAGC	0.393000														87			42		0	0	0.00195071	0	0
FSTL4	23105	broad.mit.edu	37	5	132939584	132939584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:132939584C>T	uc003kyn.1	-	1	309	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	31						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCCGGGCCTCTGCTGGTT	0.537000														84			18		0	0	0.00121646	0	0
ZBTB16	7704	broad.mit.edu	37	11	114118013	114118013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:114118013C>T	uc001pop.3	+	5	1982	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L	ZBTB16_uc001poq.3_Missense_Mutation_p.P573L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	573					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGTGAGAAACCCTACGAGTGC	0.582000														31			6		0	0	0.00116845	0	0
SLC24A1	9187	broad.mit.edu	37	15	65943235	65943235	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:65943235C>T	uc010ujf.2	+	6	3035	c.2748C>T	c.(2746-2748)ccC>ccT	p.P916P	SLC24A1_uc010ujd.1_Silent_p.P898P|SLC24A1_uc010uje.1_Silent_p.P898P|SLC24A1_uc010ujg.2_Silent_p.P916P|SLC24A1_uc010ujh.2_Silent_p.P898P|SLC24A1_uc010uji.2_Silent_p.P243P	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	916					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTTCTGCCCATCGTGTTCC	0.577000														58			12		0	0	0.00136819	0	0
MLKL	197259	broad.mit.edu	37	16	74725283	74725284	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:74725283_74725284GG>TT	uc002fdb.2	-	3	1054_1055	c.613_614CC>AA	c.(613-615)ccg>AAg	p.P205K	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	205	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.P205Q(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGAATCCACGGGGATCCTGAA	0.470000														360			9		0	0	6.4e-05	0	0
PRDM2	7799	broad.mit.edu	37	1	14106634	14106634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:14106634C>T	uc001avi.3	+	7	3200	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P782S|PRDM2_uc021ogk.1_Missense_Mutation_p.P545S|PRDM2_uc001avk.3_Missense_Mutation_p.P581S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	782						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGCGACTCACCAGCATGGAG	0.463000														36			8		0	0	0.000442599	0	0
C8B	732	broad.mit.edu	37	1	57406657	57406657	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:57406657C>T	uc001cyp.3	-	8	1330	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	C8B_uc010oon.2_Silent_p.E359E|C8B_uc010ooo.2_Silent_p.E369E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCACCAAGTCCTCCACCATGG	0.577000														16			5		0	0	8.12818e-05	0	0
RGR	5995	broad.mit.edu	37	10	86007474	86007474	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:86007474C>T	uc001kdd.1	+	1	245	c.207C>T	c.(205-207)gcC>gcT	p.A69A	RGR_uc001kdb.1_Missense_Mutation_p.P53S|RGR_uc001kdc.1_Silent_p.A69A|RGR_uc001kde.1_Silent_p.A69A	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	69					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCCTGAATGCCCTCGTTGCAG	0.652000														59			14		0	0	0.000422831	0	0
MIB2	142678	broad.mit.edu	37	1	1560202	1560202	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:1560202C>T	uc001agg.3	+	4	837	c.792C>T	c.(790-792)ctC>ctT	p.L264L	MIB2_uc001agh.3_Silent_p.L250L|MIB2_uc001agi.3_Silent_p.L264L|MIB2_uc001agj.3_Silent_p.L48L|MIB2_uc001agk.3_Silent_p.L264L|MIB2_uc001agl.2_Silent_p.L163L|MIB2_uc001agm.3_Silent_p.L149L|MIB2_uc010nyq.2_Silent_p.L163L|MIB2_uc009vkh.3_Silent_p.L48L|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	207	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGGCCTCCCGAGGATCC	0.602000														27			9		0	0	0.000442599	0	0
abParts	0	broad.mit.edu	37	14	106791087	106791087	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:106791087G>A	uc021ser.1	-	619		c.17305C>T								Parts of antibodies, mostly variable regions.																		ATTGTCTCTGGAGATGGTGAA	0.507000														158			36		0	0	0.00111076	0	0
GABRA6	2559	broad.mit.edu	37	5	161128738	161128738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:161128738C>T	uc003lyu.2	+	8	1659	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GABRA6_uc003lyv.2_Missense_Mutation_p.L212F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	441					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L441V(2)|p.L441F(2)|p.Y440Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTAGTTTATCTTTCCAAAGA	0.418000										TCGA Ovarian(5;0.080)				20			18		0	0	0.00121646	0	0
MCF2L2	23101	broad.mit.edu	37	3	182947524	182947524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:182947524G>A	uc003fli.1	-	16	2065	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S	MCF2L2_uc003flj.1_Missense_Mutation_p.P659S|MCF2L2_uc011bqr.1_Non-coding_Transcript	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	659	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGAACATCTGGAATTAGATGC	0.348000														94			18		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179425768	179425768	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179425768C>T	uc021vsy.1	-	274	77612	c.77387G>A	c.(77386-77388)cGa>cAa	p.R25796Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19491Q|TTN_uc021vta.1_Missense_Mutation_p.R19424Q|TTN_uc021vtb.1_Missense_Mutation_p.R19299Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26723	Fibronectin type-III 87.						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)			AATAACGTCTCGGAACTTGAC	0.448000														73			25		0	0	0.00127121	0	0
MYH6	4624	broad.mit.edu	37	14	23863420	23863420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:23863420C>T	uc001wjv.3	-	20	2613	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	848					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATCTCCTTCTCCGTCTCTGCG	0.562000														75			38		0	0	0.00148497	0	0
MUC6	4588	broad.mit.edu	37	11	1017490	1017490	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:1017490G>T	uc001lsw.2	-	30	5362	c.5311C>A	c.(5311-5313)Ccc>Acc	p.P1771T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1771	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGTGGTTGGGGGTGATGCTG	0.567000														600			11		8.00594e-06	4.76547e-05	0.000958276	1	0
COL3A1	1281	broad.mit.edu	37	2	189871091	189871091	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:189871091C>T	uc002uqj.1	+	42	3231	c.3114C>T	c.(3112-3114)ggC>ggT	p.G1038G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1038	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAATGGCTCTCCTGGTG	0.463000														25			11		0	0	0.000978159	0	0
RPAP1	26015	broad.mit.edu	37	15	41814314	41814314	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:41814314G>A	uc001zod.3	-	19	3001	c.2877C>T	c.(2875-2877)ctC>ctT	p.L959L		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	959	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCCAGAGCGAGTGCCAGGT	0.587000														60			30		0	0	0.000409698	0	0
HARBI1	283254	broad.mit.edu	37	11	46637731	46637731	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:46637731G>A	uc001ncy.3	-	1	305	c.57C>T	c.(55-57)caC>caT	p.H19H	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	19						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCAATGTCCGGTGACCACGGC	0.443000														61			31		0	0	0.000814825	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168918	60168918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:60168918C>T	uc001sqs.3	+	4	1141	c.842C>T	c.(841-843)tCg>tTg	p.S281L	SLC16A7_uc001sqt.3_Missense_Mutation_p.S281L|SLC16A7_uc001squ.3_Missense_Mutation_p.S281L|SLC16A7_uc009zqi.3_Missense_Mutation_p.S182L|SLC16A7_uc010ssi.2_Missense_Mutation_p.S182L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	281						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GATGAGTACTCGGCAGCTTTT	0.388000														25			17		0	0	0.00188189	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:70064197C>T	uc010kak.3	+	25	3808	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTTCGTTTCCTAATGGGCA	0.383000														49			18		0	0	0.00121646	0	0
CCDC108	255101	broad.mit.edu	37	2	219903229	219903229	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:219903229G>A	uc002vjl.1	-	3	309	c.225C>T	c.(223-225)gtC>gtT	p.V75V	CCDC108_uc010zkp.1_Silent_p.V64V|CCDC108_uc010zkq.1_Silent_p.V10V|CCDC108_uc002vjn.3_Silent_p.V10V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	75						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACCTCACGACGGAGCTTG	0.592000														26			18		0	0	0.00121646	0	0
NR1H4	9971	broad.mit.edu	37	12	100928737	100928737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:100928737C>T	uc001tht.2	+	3	726	c.698C>T	c.(697-699)aCc>aTc	p.T233I	NR1H4_uc001thq.2_Missense_Mutation_p.T223I|NR1H4_uc001thp.2_Missense_Mutation_p.T219I|NR1H4_uc001thr.2_Missense_Mutation_p.T223I|NR1H4_uc010svk.2_Missense_Mutation_p.T172I|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.T229I	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	233					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAGATCAGACCGTGAATGAA	0.423000														23			31		0	0	0.000409698	0	0
PRIC285	85441	broad.mit.edu	37	20	62203460	62203460	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:62203460C>T	uc002yfm.2	-	2	1170	c.278_splice	c.e2+1	p.K93_splice	PRIC285_uc002yfn.2_Splice_Site_p.K93_splice	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	93					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGTATCCTTACTTTGGGCAGA	0.637000														14			11		0	0	0.00136819	0	0
NGF	4803	broad.mit.edu	37	1	115829228	115829228	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115829228C>T	uc021osd.1	-	0	189	c.189G>A	c.(187-189)gtG>gtA	p.V63V	NGF_uc001efu.1_Silent_p.V63V	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	63					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding	p.V63V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGCCCCGCCACGCGTGCAG	0.627000														28			8		0	0	0.000157383	0	0
IPP	3652	broad.mit.edu	37	1	46180070	46180070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:46180070G>A	uc001cou.3	-	7	1645	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	IPP_uc001cos.4_Missense_Mutation_p.P460S	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	460						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTAGAAAGTGGATCATAGACT	0.428000														33			19		0	0	0.00152264	0	0
KLHL1	57626	broad.mit.edu	37	13	70549852	70549852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:70549852G>A	uc001vip.3	-	1	1374	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	KLHL1_uc010thm.2_Intron	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	194					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGCTCAGCATGATGAACAGCT	0.423000														37			23		0	0	0.000586117	0	0
MOG	4340	broad.mit.edu	37	6	29627242	29627242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29627242C>T	uc003nnf.3	+	1	464	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	MOG_uc003qzk.2_Missense_Mutation_p.L79F|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.L79F|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Intron|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.L79F|MOG_uc003nng.3_Missense_Mutation_p.L79F|MOG_uc003nni.3_Missense_Mutation_p.L79F|MOG_uc003nnh.3_Missense_Mutation_p.L79F|MOG_uc003nnj.3_Missense_Mutation_p.L79F|MOG_uc003nnk.3_Missense_Mutation_p.L79F	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	79	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTGGTTCATCTCTACAGAAA	0.552000														74			14		0	0	0.000219431	0	0
FAM82B	51115	broad.mit.edu	37	8	87497142	87497142	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:87497142C>T	uc003ydu.3	-	4	704	c.544G>A	c.(544-546)Gct>Act	p.A182T	FAM82B_uc011lfz.2_Intron|FAM82B_uc011lga.2_Intron	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	182						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GCAATTTTAGCCTTGATGCCT	0.279000														49			28		0	0	0.000491102	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559237	1559237	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:1559237G>A	uc010gai.3	-	1	279	c.180C>T	c.(178-180)atC>atT	p.I60I	SIRPB1_uc002wfk.4_Silent_p.I60I	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	60	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCCCACAGGGATCAGGGACG	0.542000														84			18		0	0	0.00152264	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					30			16		0	0	0.000566183	0	0
ZNF333	84449	broad.mit.edu	37	19	14805826	14805826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:14805826C>T	uc002mzn.3	+	2	142	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ZNF333_uc010dzq.2_Missense_Mutation_p.S3F|ZNF333_uc002mzk.4_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.S3F|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TTTTAGGAATCCGTCACCTTT	0.527000														103			50		0	0	0.000781405	0	0
ANO3	63982	broad.mit.edu	37	11	26664814	26664814	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:26664814C>T	uc001mqt.4	+	22	2506	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	ANO3_uc010rdr.2_Silent_p.I771I|ANO3_uc010rds.2_Silent_p.I626I|ANO3_uc010rdt.2_Silent_p.I641I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	787						chloride channel complex	chloride channel activity	p.E786K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCATTGAAATCAGGCTGGATG	0.418000														64			10		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179576050	179576050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179576050G>A	uc021vsy.1	-	93	24406	c.24181C>T	c.(24181-24183)Cga>Tga	p.R8061*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R4722*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8988	Ig-like 63.						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)			CTCAATTGTCGAGAAAATGAT	0.348000														27			13		0	0	0.00185496	0	0
CLIP2	7461	broad.mit.edu	37	7	73800895	73800895	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:73800895T>C	uc003uam.3	+	11	2851	c.2524T>C	c.(2524-2526)Ttg>Ctg	p.L842L	CLIP2_uc003uan.3_Silent_p.L807L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	842						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGTGACAGCCTTGACCTCCCA	0.592000														39			5		0	0	8.12818e-05	0	0
INHA	3623	broad.mit.edu	37	2	220439451	220439451	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:220439451C>T	uc002vmk.2	+	1	447	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	102					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCCAGAGGGCTGGCCCAGGA	0.617000														12			7		0	0	0.000673444	0	0
PARD6B	84612	broad.mit.edu	37	20	49366992	49366992	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:49366992C>T	uc002xvo.3	+	2	1329	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	362					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATCAAAAACTCTTAGAAGAAG	0.398000														20			14		0	0	0.000308642	0	0
ZNF532	55205	broad.mit.edu	37	18	56586400	56586400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:56586400C>T	uc010xeg.2	+	2	1078	c.881C>T	c.(880-882)tCg>tTg	p.S294L	ZNF532_uc002lhp.3_Missense_Mutation_p.S292L|ZNF532_uc002lho.3_Missense_Mutation_p.S294L|ZNF532_uc002lhr.3_Missense_Mutation_p.S292L|ZNF532_uc002lhs.3_Missense_Mutation_p.S292L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTGGCCAATTCGAGGGAATCC	0.532000														60			19		0	0	0.000958276	0	0
NPAS2	4862	broad.mit.edu	37	2	101587467	101587467	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:101587467G>A	uc010yvt.1	+	11	1268	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	NPAS2_uc002tap.1_Silent_p.R357R	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	357					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGATGTCCGGGTGGAAAGGA	0.567000														50			23		0	0	0.00106085	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364159	23364159	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:23364159G>T	uc002dln.3	+	2	525	c.349G>T	c.(349-351)Gag>Tag	p.E117*		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	117					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.D116Y(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGACCTGGATGAGCTGATGGA	0.507000														85			31		2.08457e-15	1.25232e-14	0.000339439	1	0
NLRP8	126205	broad.mit.edu	37	19	56481909	56481909	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:56481909G>A	uc002qmh.3	+	6	2453	c.2382_splice	c.e6-1	p.R794_splice	NLRP8_uc010etg.3_Splice_Site_p.R794_splice	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	794						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGCTTCTACAGGTTGGAAGAC	0.463000														125			50		0	0	0.000781405	0	0
KCNT1	57582	broad.mit.edu	37	9	138656903	138656903	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:138656903G>A	uc011mdq.2	+	11	1136	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	KCNT1_uc011mdr.2_Missense_Mutation_p.M181I|KCNT1_uc010nbf.3_Missense_Mutation_p.M309I|KCNT1_uc004cgo.1_Missense_Mutation_p.M103I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	354						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTCTGGATGGAGCGGCAGA	0.632000														26			9		0	0	0.000274275	0	0
CCDC93	54520	broad.mit.edu	37	2	118688702	118688702	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:118688702T>A	uc002tlj.3	-	22	1921	c.1753A>T	c.(1753-1755)Aaa>Taa	p.K585*		NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	585										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTCTCATTTTGTTCTCTTGC	0.418000														119			71		0	0	0.000781405	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238539	71238539	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:71238539G>A	uc001oqq.1	+	0	227	c.193G>A	c.(193-195)Gga>Aga	p.G65R		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	65	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGAGGCTGTGG	0.657000														132			74		0	0	0.000781405	0	0
BTBD16	118663	broad.mit.edu	37	10	124096113	124096114	+	Silent	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:124096113_124096114CC>TT	uc001lgc.1	+	14	1619_1620	c.1368_1369CC>TT	c.(1366-1371)gccctg>gcTTtg	p.456_457AL>AL	BTBD16_uc001lgd.1_Silent_p.455_456AL>AL	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	456										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GAGCAGAGGCCCTGGTTGACGG	0.545000														15			13		0	0	6.4e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126411861	126411861	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126411861C>T	uc003ifj.4	+	16	13884	c.13884C>T	c.(13882-13884)atC>atT	p.I4628I	FAT4_uc011cgp.2_Silent_p.I2869I|FAT4_uc003ifi.1_Silent_p.I2105I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4628					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I4628I(1)|p.I4571I(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGCAGCATCGCCCCTTCGG	0.512000														55			12		0	0	0.00136819	0	0
S100A7	6278	broad.mit.edu	37	1	153431448	153431448	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:153431448G>A	uc001fbv.1	-	1	113	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	14	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAACATGTCGATCATGCCTA	0.418000														104			22		0	0	0.000295444	0	0
MC3R	4159	broad.mit.edu	37	20	54824080	54824080	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:54824080C>T	uc002xxb.2	+	0	293	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	98					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGTTATCCTGGCCGTGGT	0.572000														51			25		0	0	0.00047179	0	0
FCRL5	83416	broad.mit.edu	37	1	157514647	157514647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:157514647G>A	uc009wsm.3	-	3	691	c.533C>T	c.(532-534)tCc>tTc	p.S178F	FCRL5_uc001fqu.3_Missense_Mutation_p.S178F|FCRL5_uc010phv.1_Missense_Mutation_p.S178F|FCRL5_uc010phw.1_Missense_Mutation_p.S93F|FCRL5_uc001fqv.1_Missense_Mutation_p.S178F|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	178						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GACTGTATTGGAAGAAACAGG	0.398000														39			24		0	0	0.00106085	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279966	217279966	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:217279966C>T	uc002vgc.4	+	2	869	c.539C>T	c.(538-540)tCc>tTc	p.S180F	SMARCAL1_uc002vgd.4_Missense_Mutation_p.S180F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S180F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	180					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.H179H(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCAGCTCATTCCTCTGGACAG	0.512000									Schimke Immuno-Osseous Dysplasia					108			43		0	0	0.000589545	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178193	39178193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:39178193C>T	uc004abi.3	-	4	942	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	CNTNAP3_uc004abj.3_Missense_Mutation_p.E235K|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.E235K|CNTNAP3_uc011lqs.1_Missense_Mutation_p.E235K	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	235	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTAATTAATTCCAGAGTAATG	0.294000														53			33		0	0	0.000680045	0	0
PRC1	9055	broad.mit.edu	37	15	91525035	91525036	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:91525035_91525036GG>TT	uc002bqm.3	-	3	600_601	c.443_444CC>AA	c.(442-444)ccc>cAA	p.P148Q	PRC1_uc002bqn.3_Missense_Mutation_p.P148Q|PRC1_uc002bqo.3_Missense_Mutation_p.P148Q|PRC1_uc010uqs.2_Missense_Mutation_p.P107Q|PRC1_uc010uqt.1_Missense_Mutation_p.P96Q	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	148	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCTAAGCTGGGCACTGAGGC	0.426000														713			13		0	0	6.4e-05	0	0
PIGQ	9091	broad.mit.edu	37	16	624315	624315	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:624315C>T	uc002cho.3	+	1	379	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	PIGQ_uc010bqw.3_Silent_p.L81L|PIGQ_uc002chm.3_Silent_p.L81L|PIGQ_uc002chn.3_Silent_p.L81L|PIGQ_uc010uui.2_Silent_p.L95L	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	81					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGGCCGCTTCCTGGAGAGCCT	0.731000														24			9		0	0	0.000978159	0	0
PRC1	9055	broad.mit.edu	37	15	91524195	91524196	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:91524195_91524196CC>AA	uc002bqm.3	-	5	897_898	c.740_741GG>TT	c.(739-741)tgg>tTT	p.W247F	PRC1_uc002bqn.3_Missense_Mutation_p.W247F|PRC1_uc002bqo.3_Missense_Mutation_p.W247F|PRC1_uc010uqs.2_Missense_Mutation_p.W206F|PRC1_uc010uqt.1_3'UTR	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	247	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCAACCTGTCCCAGAGCTCTCG	0.500000														808			11		0	0	6.4e-05	0	0
GABRA3	2556	broad.mit.edu	37	X	151358362	151358362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:151358362G>A	uc010ntk.1	-	8	1223	c.983C>T	c.(982-984)tCc>tTc	p.S328F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.S328F(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTAGGTAAGGAATTTCTGGC	0.458000														19			18		0	0	0.000958276	0	0
C12orf51	283450	broad.mit.edu	37	12	112616802	112616802	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:112616802C>A	uc021reb.1	-	63	11290	c.10894G>T	c.(10894-10896)Gtg>Ttg	p.V3632L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTGCTCACCACCTTCACGGGG	0.622000														17			5		1.23904e-05	7.363e-05	0.000602214	1	0
TRIM38	10475	broad.mit.edu	37	6	25966959	25966959	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:25966959G>A	uc003nfm.3	+	2	644	c.209G>A	c.(208-210)aGc>aAc	p.S70N		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	70					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CATATGGATAGCCTCCGACCC	0.493000														23			20		0	0	0.00121646	0	0
C1orf106	55765	broad.mit.edu	37	1	200880799	200880799	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:200880799C>T	uc001gvo.3	+	8	1475	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	C1orf106_uc010ppm.2_Missense_Mutation_p.S393F	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	478										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCCGACATCTCCTTTCTGCAG	0.677000														68			23		0	0	0.000295444	0	0
OR6B1	135946	broad.mit.edu	37	7	143701774	143701774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143701774C>T	uc003wdt.1	+	0	685	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M228fs*41(1)|p.P229P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATTATGCATGCCCACAGGAAA	0.463000														109			49		0	0	0.000781405	0	0
TCRB	0	broad.mit.edu	37	7	142099665	142099665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142099665G>A	uc003vyz.1	-	1	137	c.137C>T	c.(136-138)tCg>tTg	p.S46L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.S46L					SubName: Full=Uncharacterized protein;																		TACATGACCCGAAATTGGATC	0.502000														40			30		0	0	0.000491102	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372661	151372661	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:151372661G>A	uc003wkk.3	-	3	1140	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	PRKAG2_uc011kvl.2_Silent_p.L53L|PRKAG2_uc003wkj.3_Silent_p.L133L|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Silent_p.L177L	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	177					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TAGGATTCCAGGGGAAACGTG	0.587000														97			36		0	0	0.00148497	0	0
FAM208A	23272	broad.mit.edu	37	3	56695032	56695032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:56695032C>T	uc003did.4	-	9	1275	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	FAM208A_uc003dic.4_5'UTR|FAM208A_uc003die.4_Missense_Mutation_p.D392N	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	392										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTTCAACATCTAATTTCTCA	0.313000														35			17		0	0	0.00074312	0	0
CELSR2	1952	broad.mit.edu	37	1	109813581	109813582	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:109813581_109813582GG>TT	uc001dxa.4	+	24	7577_7578	c.7516_7517GG>TT	c.(7516-7518)ggg>TTg	p.G2506L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2506					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.G2506W(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGGCTACGGGAACCCTGAC	0.639000														332			8		0	0	6.4e-05	0	0
RARRES2	5919	broad.mit.edu	37	7	150037578	150037578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150037578G>A	uc003wha.3	-	1	238	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	41					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	p.P41P(1)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGCACGGGCGGGTGCTTGTGA	0.706000														12			10		0	0	0.000673444	0	0
TMEM155	132332	broad.mit.edu	37	4	122682754	122682754	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:122682754C>T	uc003idx.1	-	4	710	c.151G>A	c.(151-153)Gga>Aga	p.G51R		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	51						extracellular region				breast(1)|lung(5)	6						CTTGCCATTCCCAGAAAAGCC	0.428000														34			16		0	0	0.000958276	0	0
PHKG1	5260	broad.mit.edu	37	7	56149880	56149880	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:56149880G>A	uc011kdb.1	-	7	905	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.P99L|PHKG1_uc003trz.1_Missense_Mutation_p.P205L|PHKG1_uc011kdc.1_Missense_Mutation_p.P196L|PHKG1_uc011kdd.1_Missense_Mutation_p.P151L	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	205	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCGTAGCCCGGGTGGTCCTC	0.627000														73			27		0	0	0.00106085	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687287	27687287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:27687287G>A	uc001itu.2	-	3	2358	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	747					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCCCCGGGAAGAAATGAT	0.318000														23			15		0	0	0.000422831	0	0
MYT1L	23040	broad.mit.edu	37	2	1842995	1842995	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:1842995C>T	uc002qxe.3	-	20	3833	c.3006G>A	c.(3004-3006)acG>acA	p.T1002T	MYT1L_uc002qxd.3_Silent_p.T1000T|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1002					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACATGCCTTCCGTCTTGACCG	0.667000														32			12		0	0	0.00185496	0	0
MRPL54	116541	broad.mit.edu	37	19	3765185	3765185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:3765185G>A	uc002lyq.4	+	1	174	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	47						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAAATCGGGAAAAGGTGCA	0.557000														23			11		0	0	0.000673444	0	0
GJA8	2703	broad.mit.edu	37	1	147380200	147380200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:147380200G>A	uc021ovm.1	+	0	118	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	GJA8_uc001epu.2_Missense_Mutation_p.A40T	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	40					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTTGGCACGGCCGCAGAGTT	0.592000														63			16		0	0	0.000308642	0	0
SRBD1	55133	broad.mit.edu	37	2	45715432	45715432	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:45715432C>T	uc002rus.3	-	14	1989	c.1913G>A	c.(1912-1914)aGc>aAc	p.S638N	SRBD1_uc010yoc.2_Missense_Mutation_p.S157N	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	638				S -> G (in Ref. 1; AK056536).	nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGCTTCAGGGCTGACACTGTA	0.413000														65			37		0	0	0.000781405	0	0
LIPE	3991	broad.mit.edu	37	19	42930801	42930801	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:42930801C>T	uc002otr.3	-	0	778	c.501G>A	c.(499-501)agG>agA	p.R167R	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	167					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGATGGCTCCCTTTTGGCTC	0.572000														78			36		0	0	0.00170553	0	0
PSG9	5678	broad.mit.edu	37	19	43763240	43763240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:43763240C>T	uc002owd.4	-	3	856	c.757G>A	c.(757-759)Gag>Aag	p.E253K	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.E160K|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	253	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.507000														215			80		0	0	0.000781405	0	0
BPIFC	254240	broad.mit.edu	37	22	32853344	32853344	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:32853344C>G	uc003amn.2	-	0	30	c.30G>C	c.(28-30)tgG>tgC	p.W10C	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Missense_Mutation_p.W10C	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	10						extracellular region	lipopolysaccharide binding|phospholipid binding										GGAAACATCCCCAGAGGACTG	0.408000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		51			4		0	0	0.000602214	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530281	140530281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140530281G>A	uc003lir.3	+	0	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	148	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATGCCAGGAAAGATATTT	0.463000														97			74		0	0	0.000781405	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10391870C>T	uc003bvt.3	-	15	2769	c.2330G>A	c.(2329-2331)cGa>cAa	p.R777Q	ATP2B2_uc003bvv.3_Missense_Mutation_p.R732Q|ATP2B2_uc003bvw.3_Missense_Mutation_p.R732Q|ATP2B2_uc010hdo.3_Missense_Mutation_p.R482Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	777					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCAATTCGCTCCTGCTC	0.612000														26			5		0	0	0.000602214	0	0
TAL1	6886	broad.mit.edu	37	1	47685646	47685646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:47685646C>T	uc001cqx.2	-	3	1319	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TAL1_uc009vyq.2_Silent_p.R4R|TAL1_uc001cqy.2_Missense_Mutation_p.E248K	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	248					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTGCCCTCCTCCTCCTGGTCA	0.642000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									19			13		0	0	0.00136819	0	0
HTR1D	3352	broad.mit.edu	37	1	23520335	23520335	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23520335G>A	uc001bgn.3	-	0	888	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	126					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGAGATGCAGGATGGAGGCTG	0.552000														34			10		0	0	0.000442599	0	0
ZNF257	113835	broad.mit.edu	37	19	22255614	22255614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:22255614C>T	uc010ecx.3	+	1	176	c.7C>T	c.(7-9)Cca>Tca	p.P3S	ZNF257_uc010ecy.3_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTCAGGGACCACTGACAAT	0.408000														77			26		0	0	0.000878237	0	0
GPR32	2854	broad.mit.edu	37	19	51274520	51274520	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51274520C>T	uc010ycf.2	+	0	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	221						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGGCCACTTCCTGCTGGGCT	0.592000														48			17		0	0	0.00074312	0	0
KALRN	8997	broad.mit.edu	37	3	124376296	124376296	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:124376296G>A	uc003ehg.3	+	40	5987	c.5860_splice	c.e40-1	p.G1954_splice	KALRN_uc003ehi.3_Splice_Site_p.G295_splice|KALRN_uc003ehk.3_Splice_Site_p.G257_splice|KALRN_uc011bjz.2_Splice_Site_p.G46_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1953	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCTGCAGGGCTTCATGAAG	0.468000														24			7		0	0	0.000274275	0	0
ROBO1	6091	broad.mit.edu	37	3	78656137	78656137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:78656137G>A	uc003dqe.2	-	28	4698	c.4490C>T	c.(4489-4491)tCc>tTc	p.S1497F	ROBO1_uc003dqc.2_Missense_Mutation_p.S1397F|ROBO1_uc003dqd.2_Missense_Mutation_p.S1452F|ROBO1_uc003dqb.2_Missense_Mutation_p.S1458F|ROBO1_uc010hoh.2_Missense_Mutation_p.S689F|ROBO1_uc011bgl.1_Missense_Mutation_p.S1069F	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1497					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGTGTCTTGGATTGGGCAGT	0.438000														35			9		0	0	0.000274275	0	0
PVRL4	81607	broad.mit.edu	37	1	161044155	161044155	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161044155C>T	uc001fxo.2	-	5	1308	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	PVRL4_uc010pjy.1_Missense_Mutation_p.E16K|PVRL4_uc010pjz.1_Missense_Mutation_p.E71K	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	337					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGAGTCTTCCTGGGGGTCT	0.602000														34			20		0	0	0.000295444	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478151	14478151	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:14478151G>A	uc010xai.2	-	2		c.1413C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		AAGCACAGATGAGACGTATGG	0.398000														25			6		0	0	0.00116845	0	0
CCDC111	201973	broad.mit.edu	37	4	185599530	185599530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:185599530C>T	uc003iwk.2	+	7	1422	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CCDC111_uc010isd.1_Non-coding_Transcript|CCDC111_uc003iwj.2_Missense_Mutation_p.S330F|CCDC111_uc003iwm.2_Missense_Mutation_p.S201F|CCDC111_uc003iwn.2_Intron	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	330					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTTCTCTCTTCTTTGGTCAGC	0.313000														30			21		0	0	0.000295444	0	0
SPZ1	84654	broad.mit.edu	37	5	79616023	79616023	+	RNA	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:79616023C>T	uc011ctk.1	-	1		c.1492G>A			SPZ1_uc003kgn.3_5'UTR			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTCTGCTTTCCTTCTGTCCT	0.483000														118			90		0	0	0.000781405	0	0
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:129636636G>A	uc021zfb.1	+	24	3676	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1191K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1191K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1191	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463000														33			30		0	0	0.000814825	0	0
OR52N1	79473	broad.mit.edu	37	11	5809545	5809545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5809545G>A	uc010qzo.2	-	0	502	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CAGTATGGAAGGCGCTTGGTG	0.488000														18			4		0	0	0.000602214	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183498	67183498	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67183498G>A	uc021tka.1	-	0	891	c.891C>T	c.(889-891)gcC>gcT	p.A297A	B3GNT9_uc002erf.3_Silent_p.A297A|BC007896_uc002erg.1_5'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.	297					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGTGCAGCGTGGCCCCGGAAA	0.697000														7			6		0	0	0.00116845	0	0
MLLT6	4302	broad.mit.edu	37	17	36865786	36865786	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:36865786C>T	uc002hqi.4	+	5	523	c.510C>T	c.(508-510)aaC>aaT	p.N170N	MLLT6_uc010wdr.2_Silent_p.N170N|MLLT6_uc010cvm.1_Silent_p.N170N	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	170					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGTGGACAACGTCAAGTACT	0.552000			T	MLL	AL									23			9		0	0	0.000978159	0	0
TEX14	56155	broad.mit.edu	37	17	56679191	56679191	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56679191C>T	uc010dcz.2	-	12	1790	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	TEX14_uc002iwr.2_Missense_Mutation_p.E552K|TEX14_uc002iws.2_Missense_Mutation_p.E552K|TEX14_uc010dda.2_Missense_Mutation_p.E332K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	558						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTATGATTTCCATGTCAGGT	0.453000														50			35		0	0	0.000953801	0	0
SORL1	6653	broad.mit.edu	37	11	121391521	121391521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:121391521C>T	uc001pxx.3	+	8	1496	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	456					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTCAGGCTCCAGCCTTCACG	0.418000														30			15		0	0	0.00074312	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433100	140433100	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140433100G>A	uc003lik.1	+	0	2122	c.2045G>A	c.(2044-2046)aGa>aAa	p.R682K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	682					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)			AAGCATTCTAGAAAGGTAAAT	0.438000														114			62		0	0	0.000781405	0	0
TMEM241	85019	broad.mit.edu	37	18	20936596	20936596	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:20936596G>A	uc002kuf.3	-	11	742	c.633C>T	c.(631-633)ttC>ttT	p.F211F	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	211						integral to membrane											AGAAGTACAGGAATGGGAAGT	0.522000														21			5		0	0	0.000602214	0	0
SMG8	55181	broad.mit.edu	37	17	57287525	57287525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:57287525C>T	uc002ixi.3	+	0	155	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCTGGCGGACCGGAGCCTCCA	0.602000														26			14		0	0	0.000566183	0	0
ZNF230	7773	broad.mit.edu	37	19	44515552	44515552	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:44515552G>A	uc002oyb.1	+	4	1612	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GAGGACTGTGGGAAGCGCTAC	0.363000														33			18		0	0	0.000566183	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185516	140185516	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:140185516G>A	uc003etn.3	+	7	1477	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	CLSTN2_uc003etm.2_Silent_p.K429K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	429					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGCGGAAGGACTTCGACC	0.537000										HNSCC(16;0.037)				51			9		0	0	0.000442599	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021259	142021259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142021259C>T	uc011krr.1	+	1	424	c.239C>T	c.(238-240)cCt>cTt	p.P80L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.P80L					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAAACTTCCCTGGTCGATTC	0.532000														26			14		0	0	0.000219431	0	0
OR4A16	81327	broad.mit.edu	37	11	55111247	55111247	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55111247T>C	uc010rie.2	+	0	571	c.571T>C	c.(571-573)Tac>Cac	p.Y191H		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T190T(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCTTGACACCTACTTTATAGG	0.418000														21			7		0	0	0.000157383	0	0
AGGF1	55109	broad.mit.edu	37	5	76332495	76332495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:76332495G>A	uc003ket.3	+	3	1013	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	211					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388000														509			10		0	0	0.00185496	0	0
FILIP1	27145	broad.mit.edu	37	6	76124461	76124461	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:76124461G>A	uc010kbe.3	-	2	767	c.237C>T	c.(235-237)tcC>tcT	p.S79S	FILIP1_uc003phy.1_Silent_p.S76S|FILIP1_uc003pia.3_Silent_p.S76S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	76				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTCTTCTTTGGATAACTCCA	0.408000														66			13		0	0	0.000308642	0	0
SPEN	23013	broad.mit.edu	37	1	16255923	16255923	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:16255923C>T	uc001axk.1	+	10	3392	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	SPEN_uc010obp.1_Missense_Mutation_p.P1022L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1063					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGCCAGCCCCAAAGACTGT	0.463000														72			22		0	0	0.000586117	0	0
CSMD1	64478	broad.mit.edu	37	8	2876166	2876166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:2876166G>A	uc022aqr.1	-	51	8252	c.7862C>T	c.(7861-7863)tCg>tTg	p.S2621L	CSMD1_uc011kwj.2_Missense_Mutation_p.S1951L|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2622	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCACACGAGATAACTAG	0.393000														57			38		0	0	0.000437636	0	0
SEH1L	81929	broad.mit.edu	37	18	12982560	12982560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:12982560C>T	uc002krq.3	+	6	943	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	SEH1L_uc002krr.3_Missense_Mutation_p.H269Y	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	269					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTTTGAAATCCATATAGTGGC	0.383000														42			11		0	0	0.000978159	0	0
MYOD1	4654	broad.mit.edu	37	11	17741473	17741473	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:17741473G>A	uc001mni.3	+	0	364	c.144G>A	c.(142-144)ccG>ccA	p.P48P		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	48					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						ACCTGGACCCGCGCCTGATGC	0.672000														25			16		0	0	0.00121646	0	0
ELF4	2000	broad.mit.edu	37	X	129200986	129200986	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:129200986C>T	uc004evd.4	-	8	2087	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ELF4_uc004eve.4_Missense_Mutation_p.E568K	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	568					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCAGGAGCTCCCTCAGGGTC	0.597000			T	ERG	AML									27			51		0	0	0.000781405	0	0
CACNB2	783	broad.mit.edu	37	10	18690890	18690890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18690890C>T	uc001ipr.2	+	2	311	c.251C>T	c.(250-252)tCc>tTc	p.S84F	CACNB2_uc001ipt.2_Missense_Mutation_p.S84F|CACNB2_uc009xjz.1_Missense_Mutation_p.S84F|CACNB2_uc001ips.2_Missense_Mutation_p.S84F|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.S56F|CACNB2_uc001ipv.3_Missense_Mutation_p.S56F|CACNB2_uc009xka.2_Missense_Mutation_p.S56F|CACNB2_uc001ipw.2_Missense_Mutation_p.S29F|CACNB2_uc001ipx.2_Missense_Mutation_p.S29F|CACNB2_uc009xkb.1_Missense_Mutation_p.S30F|CACNB2_uc010qcm.2_Missense_Mutation_p.S30F|CACNB2_uc001ipz.2_Missense_Mutation_p.S30F|CACNB2_uc001ipy.2_Missense_Mutation_p.S30F|CACNB2_uc010qcn.2_Missense_Mutation_p.S36F|CACNB2_uc010qco.1_Missense_Mutation_p.S36F|CACNB2_uc001iqa.2_Missense_Mutation_p.S36F	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	84					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCATCCGATTCCGATGTATCT	0.502000														26			13		0	0	0.00185496	0	0
DNAH3	55567	broad.mit.edu	37	16	20976239	20976239	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:20976239C>T	uc010vbe.2	-	52	8967	c.8967G>A	c.(8965-8967)ggG>ggA	p.G2989G	DNAH3_uc010vbd.2_Silent_p.G424G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2989					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)		TATAGCGGATCCCCAGCTGTC	0.527000														53			35		0	0	0.000814825	0	0
APOB	338	broad.mit.edu	37	2	21235060	21235060	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:21235060G>A	uc002red.3	-	25	4808	c.4680C>T	c.(4678-4680)tcC>tcT	p.S1560S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1560					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATACTTTAGGGAAGCAGTAT	0.423000														255			108		0	0	0.000781405	0	0
FCN1	2219	broad.mit.edu	37	9	137808303	137808303	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:137808303C>T	uc004cfi.3	-	1	197	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	36					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)		CCACCACCTTCACCTCTGCAG	0.642000														95			48		0	0	0.000781405	0	0
ECE1	1889	broad.mit.edu	37	1	21564728	21564728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:21564728G>A	uc001bek.2	-	10	1363	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	ECE1_uc001bem.2_Missense_Mutation_p.P414S|ECE1_uc001bej.2_Missense_Mutation_p.P418S|ECE1_uc001bei.2_Missense_Mutation_p.P427S|ECE1_uc010odl.1_Missense_Mutation_p.P430S|ECE1_uc009vqa.1_Missense_Mutation_p.P430S	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	430					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TTCCAGCGAGGAAGACAGGTC	0.562000														19			14		0	0	0.000219431	0	0
OR4M1	441670	broad.mit.edu	37	14	20248805	20248805	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:20248805G>A	uc010tku.2	+	0	324	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTTGTTGGGGCTTCGGAGA	0.478000														85			22		0	0	0.000295444	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834576	125834577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:125834576_125834577GG>AA	uc001uhe.1	+	1	639_640	c.631_632GG>AA	c.(631-633)ggg>AAg	p.G211K	TMEM132B_uc021rgl.1_Missense_Mutation_p.G101K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	211						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCCTGCTCGGGGGCACCACG	0.629000														37			8		0	0	6.4e-05	0	0
UGT8	7368	broad.mit.edu	37	4	115597161	115597161	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:115597161T>C	uc003ibs.2	+	5	1865	c.1343T>C	c.(1342-1344)aTa>aCa	p.I448T	UGT8_uc003ibt.2_Missense_Mutation_p.I448T|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	448					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATCTATTGGATAGATTATATT	0.443000														91			17		0	0	0.00152264	0	0
FCRL5	83416	broad.mit.edu	37	1	157497579	157497579	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:157497579G>A	uc009wsm.3	-	8	1946	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	FCRL5_uc001fqu.3_Silent_p.I596I|FCRL5_uc010phv.1_Silent_p.I596I|FCRL5_uc010phw.1_Silent_p.I511I	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	596	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCAGTACAGGATTGGGGGAG	0.597000														47			10		0	0	0.000673444	0	0
PRDM2	7799	broad.mit.edu	37	1	14107999	14107999	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:14107999C>T	uc001avi.3	+	7	4565	c.3709C>T	c.(3709-3711)Ccc>Tcc	p.P1237S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P1237S|PRDM2_uc001avk.3_Missense_Mutation_p.P1036S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1237						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTTACAGATCCCAGCAAGGC	0.473000														88			51		0	0	0.000781405	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261995	125261995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:125261995C>T	uc010flu.3	+	7	1553	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.R396*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	396	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T397T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTCCAGTTTCGAACATGGAA	0.552000														25			15		0	0	0.000422831	0	0
SPI1	6688	broad.mit.edu	37	11	47376925	47376925	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:47376925C>T	uc001nfb.1	-	4	892	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MYBPC3_uc021qir.1_5'Flank|MYBPC3_uc021qis.1_5'Flank|SPI1_uc001nfc.1_Silent_p.K222K|SLC39A13_uc001nfd.3_5'Flank	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	222					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGTAGGTCATCTTCTTGCGGT	0.607000														31			11		0	0	0.000673444	0	0
SPAG17	200162	broad.mit.edu	37	1	118558588	118558588	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:118558588C>T	uc001ehk.2	-	29	4355	c.4287_splice	c.e29+1	p.T1429_splice		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1429						cilium|flagellar axoneme|microtubule		p.T1429T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGTCATACCGTTCCATTGA	0.378000														19			9		0	0	0.000673444	0	0
NFASC	23114	broad.mit.edu	37	1	204944489	204944489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:204944489C>T	uc010prc.2	+	13	1879	c.350C>T	c.(349-351)tCc>tTc	p.S117F	NFASC_uc001hbh.3_Missense_Mutation_p.S550F|NFASC_uc010pqz.2_Missense_Mutation_p.S544F|NFASC_uc001hbj.3_Missense_Mutation_p.S550F|NFASC_uc010pra.2_Missense_Mutation_p.S561F|NFASC_uc001hbi.3_Missense_Mutation_p.S561F|NFASC_uc010prb.2_Missense_Mutation_p.S561F|NFASC_uc001hbk.1_Missense_Mutation_p.S371F			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	550	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.N116K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACGACCCCTCCCTGAAACTC	0.597000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			62		0	0	0.000781405	0	0
IDO2	169355	broad.mit.edu	37	8	39862883	39862883	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39862883G>A	uc010lwy.1	+	8	986	c.744G>A	c.(742-744)cgG>cgA	p.R248R	IDO2_uc003xno.1_Intron|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_Intron	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	235					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGGCATCCGGATCTTTCTCT	0.398000														30			9		0	0	0.000978159	0	0
NEBL	10529	broad.mit.edu	37	10	21108375	21108375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:21108375C>T	uc001iqi.3	-	19	2430	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	678					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCCTGGTTTCGCCTCACTCT	0.433000														124			19		0	0	0.000295444	0	0
TTLL11	158135	broad.mit.edu	37	9	124801574	124801574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:124801574G>A	uc011lyl.2	-	1	994	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_5'UTR|TTLL11_uc004blt.1_Missense_Mutation_p.S269F|TTLL11_uc004blu.1_Missense_Mutation_p.S269F	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	269	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CACTTGACCGGAGAATATGTC	0.418000														60			28		0	0	0.000409698	0	0
PKP1	5317	broad.mit.edu	37	1	201282611	201282611	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:201282611C>T	uc001gwd.3	+	2	875	c.624C>T	c.(622-624)tcC>tcT	p.S208S	PKP1_uc001gwe.3_Silent_p.S208S|PKP1_uc009wzm.3_Intron	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	208					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGTGCCTCCAAGCAGGACC	0.592000														29			8		0	0	0.000673444	0	0
TMEM202	338949	broad.mit.edu	37	15	72690727	72690727	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:72690727G>A	uc002auq.3	+	0	60	c.60G>A	c.(58-60)aaG>aaA	p.K20K	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	20						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAATAAAGGGGAACCGGA	0.448000														10			11		0	0	0.000673444	0	0
PER3	8863	broad.mit.edu	37	1	7890087	7890087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:7890087C>T	uc001aop.3	+	17	3304	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L	PER3_uc009vmg.1_Missense_Mutation_p.P1026L|PER3_uc009vmh.1_Missense_Mutation_p.P1019L|PER3_uc001aoo.3_Missense_Mutation_p.P1018L|PER3_uc010nzw.2_Missense_Mutation_p.P707L	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	1018	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGAATCCATCCCATCCT	0.592000														45			9		0	0	0.000673444	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635553	122635553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:122635553C>T	uc003vkl.1	-	0	202	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	46					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAATCATGTCCACAGGCATC	0.443000														13			8		0	0	0.000442599	0	0
JPH1	56704	broad.mit.edu	37	8	75227604	75227604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:75227604G>A	uc003yae.3	-	1	671	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	JPH1_uc003yaf.3_Missense_Mutation_p.L211F|JPH1_uc003yag.1_Missense_Mutation_p.L75F	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	211					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTCCGGAAGAGGCCGCCCTTC	0.662000														74			36		0	0	0.000953801	0	0
OR10H2	26538	broad.mit.edu	37	19	15839270	15839270	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:15839270G>A	uc002nbm.2	+	0	437	c.417G>A	c.(415-417)cgG>cgA	p.R139R		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGAGCCCACGGGGCTGCGCCT	0.637000														38			29		0	0	0.00127121	0	0
LONRF2	164832	broad.mit.edu	37	2	100925618	100925618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:100925618G>A	uc002tal.4	-	1	1389	c.749C>T	c.(748-750)gCt>gTt	p.A250V	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	250					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATCTTGGAGAGCTTGCTCATA	0.373000														58			27		0	0	0.000878237	0	0
USP29	57663	broad.mit.edu	37	19	57641322	57641322	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57641322A>G	uc002qny.3	+	3	1635	c.1279A>G	c.(1279-1281)Aat>Gat	p.N427D	USP29_uc021vci.1_Missense_Mutation_p.N427D	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	427					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGTTGCTAATTTTGAGTT	0.408000														67			23		0	0	0.000375601	0	0
NRXN2	9379	broad.mit.edu	37	11	64418795	64418795	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:64418795G>A	uc021qkw.1	-	13	3312	c.2850C>T	c.(2848-2850)gcC>gcT	p.A950A	NRXN2_uc021qkx.1_Silent_p.A910A|NRXN2_uc001oas.3_Silent_p.A910A|NRXN2_uc001oaq.3_Silent_p.A617A	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	950	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCATCAGGGGCCGTGGTCT	0.577000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			19		0	0	0.000958276	0	0
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:37271845C>T	uc001caz.2	-	13	2309	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	GRIK3_uc001cba.1_Missense_Mutation_p.G725D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	725					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E724*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCTGGATGCCCTCCTCGTT	0.607000														43			14		0	0	0.000219431	0	0
TPST1	8460	broad.mit.edu	37	7	65705952	65705952	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:65705952C>T	uc003tuw.3	+	1	892	c.540C>T	c.(538-540)ctC>ctT	p.L180L	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	180					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCAAATTTCTCCTGATGGTCC	0.408000														37			24		0	0	0.000586117	0	0
CAND1	55832	broad.mit.edu	37	12	67699646	67699646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:67699646C>T	uc001stn.2	+	9	2635	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	CAND1_uc001sto.2_Missense_Mutation_p.S243F	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	733					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATAAGTGGATCCATTCTCAAT	0.428000														55			40		0	0	0.00128727	0	0
PRDM9	56979	broad.mit.edu	37	5	23522894	23522894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:23522894G>A	uc003jgo.3	+	7	964	c.782G>A	c.(781-783)tGg>tAg	p.W261*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	261	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTGGAGTATGGAATGAGGCA	0.582000										HNSCC(3;0.000094)				28			5		0	0	0.000602214	0	0
UBE4A	9354	broad.mit.edu	37	11	118261424	118261425	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:118261424_118261425CC>AA	uc001psw.3	+	17	2956_2957	c.2821_2822CC>AA	c.(2821-2823)cca>AAa	p.P941K	UBE4A_uc001psv.3_Missense_Mutation_p.P948K	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	941					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCCTATTCCCCAACTCTCTTT	0.446000														129			6		0	0	6.4e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62288329	62288329	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62288329G>A	uc001ntl.3	-	4	13860	c.13560C>T	c.(13558-13560)tcC>tcT	p.S4520S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4520					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCACTCATGGAGATTTGTG	0.428000														89			11		0	0	0.00136819	0	0
RAD54B	25788	broad.mit.edu	37	8	95384577	95384577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:95384577G>A	uc003ygk.3	-	14	2685	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	RAD54B_uc010may.2_Nonsense_Mutation_p.Q668*	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGACCAAGCTGACAATCTCTA	0.368000								Direct reversal of damage;Homologous recombination						56			10		0	0	0.000978159	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777628	43777628	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:43777628C>T	uc010skx.2	-	29	4605	c.4605G>A	c.(4603-4605)ggG>ggA	p.G1535G		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1535	TSP type-1 13.					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)		CTCTTTCCATCCCCTTGTGCT	0.433000														45			43		0	0	0.000781405	0	0
ODZ4	26011	broad.mit.edu	37	11	78380301	78380301	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:78380301G>A	uc001ozl.4	-	31	7552	c.7089C>T	c.(7087-7089)atC>atT	p.I2363I	ODZ4_uc001ozk.4_Silent_p.I588I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2363					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GAGGGGTCCCGATGTTGTCAC	0.488000														50			27		0	0	0.000720815	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457046	110457046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:110457046G>A	uc003yne.3	+	37	5052	c.4948G>A	c.(4948-4950)Gaa>Aaa	p.E1650K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1650					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGTCCAATGAATTTGATAG	0.428000										HNSCC(38;0.096)				115			74		0	0	0.000781405	0	0
TCF25	22980	broad.mit.edu	37	16	89965042	89965042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:89965042G>A	uc002fpb.2	+	9	1182	c.1100G>A	c.(1099-1101)tGc>tAc	p.C367Y	TCF25_uc002fpc.2_Missense_Mutation_p.C132Y	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	367					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTGGAGTACTGCAAGCTCATC	0.607000														74			37		0	0	0.000814825	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461977	5461977	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:5461977C>T	uc003jdm.4	+	12	2752	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	844										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATAACAATCCTGTAGAATT	0.403000														63			8		0	0	0.000442599	0	0
ITGA8	8516	broad.mit.edu	37	10	15647736	15647736	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:15647736G>A	uc001ioc.1	-	18	1957	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	ITGA8_uc010qcb.1_Silent_p.L638L	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	653					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTAGCCGACAGCTTCAAGTCA	0.388000														26			6		0	0	0.000157383	0	0
CASR	846	broad.mit.edu	37	3	122002713	122002713	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:122002713C>T	uc003eew.4	+	6	2380	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	CASR_uc003eev.4_Missense_Mutation_p.R638C	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	638					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TATCAAGTTCCGCAACACACC	0.562000														21			15		0	0	0.000219431	0	0
UBR1	197131	broad.mit.edu	37	15	43299340	43299340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:43299340C>T	uc001zqq.3	-	29	3418	c.3352G>A	c.(3352-3354)Gcc>Acc	p.A1118T		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1118					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGACACAGGCCGATAATACC	0.418000														87			26		0	0	0.001512	0	0
FERMT3	83706	broad.mit.edu	37	11	63978206	63978207	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:63978206_63978207CC>TT	uc001nyl.2	+	2	433_434	c.284_285CC>TT	c.(283-285)ccc>cTT	p.P95L	FERMT3_uc001nym.2_Missense_Mutation_p.P95L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	95					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TTCTTTGGGCCCCAGCACCGGC	0.649000														110			58		0	0	6.4e-05	0	0
ZIK1	284307	broad.mit.edu	37	19	58102402	58102402	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:58102402A>G	uc002qpg.3	+	3	1320	c.1223A>G	c.(1222-1224)aAg>aGg	p.K408R	ZIK1_uc002qph.3_Missense_Mutation_p.K353R|ZIK1_uc002qpi.3_Missense_Mutation_p.K395R|ZIK1_uc002qpj.3_Missense_Mutation_p.K305R	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCCTTATAAGTGTGGTGAC	0.463000														44			22		0	0	0.000375601	0	0
HNF4A	3172	broad.mit.edu	37	20	43042392	43042392	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:43042392C>T	uc002xma.3	+	3	533	c.444C>T	c.(442-444)agC>agT	p.S148S	HNF4A_uc002xlt.3_Silent_p.S126S|HNF4A_uc002xlu.3_Silent_p.S126S|HNF4A_uc002xlv.3_Silent_p.S126S|HNF4A_uc002xly.3_Silent_p.S148S|HNF4A_uc010ggq.3_Silent_p.S141S|HNF4A_uc002xlz.3_Silent_p.S148S	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	148					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGACAGCAGCCTGCCCTCCA	0.627000														140			26		0	0	0.001512	0	0
CTNND2	1501	broad.mit.edu	37	5	11397202	11397202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:11397202G>A	uc003jfa.1	-	5	698	c.553C>T	c.(553-555)Cct>Tct	p.P185S	CTNND2_uc010itt.2_Missense_Mutation_p.P94S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	185					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCTGTGAAGGGGTGGTTTCC	0.602000														47			14		0	0	0.000219431	0	0
OXNAD1	92106	broad.mit.edu	37	3	16312571	16312571	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:16312571C>T	uc011awb.2	+	1	286	c.166C>T	c.(166-168)Cta>Tta	p.L56L	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Silent_p.L38L|OXNAD1_uc003cax.3_Silent_p.L38L	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	38	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CCACCTTACTCTAACCAGGTG	0.478000														86			11		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9059391	9059391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9059391C>T	uc002mkp.3	-	2	28259	c.28055G>A	c.(28054-28056)aGa>aAa	p.R9352K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9354	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						GGTAGAAATTCTAGTGATGGT	0.517000														44			25		0	0	0.000586117	0	0
CDKAL1	54901	broad.mit.edu	37	6	20546710	20546711	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:20546710_20546711CC>AA	uc003ndd.2	+	2	296_297	c.129_130CC>AA	c.(127-132)acccaa>acAAaa	p.Q44K	CDKAL1_uc003nde.2_Missense_Mutation_p.P11Q|CDKAL1_uc021ymk.1_Missense_Mutation_p.Q44K|CDKAL1_uc010jpo.1_Missense_Mutation_p.Q44K|CDKAL1_uc003ndb.1_Missense_Mutation_p.Q44K	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	44					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.Q44K(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGCGAAATACCCAAAAATATTT	0.366000														335			8		0	0	6.4e-05	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355084	77355084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:77355084G>A	uc002ffc.4	-	14	2598	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y	ADAMTS18_uc010chc.1_Missense_Mutation_p.H315Y|ADAMTS18_uc002ffe.1_Missense_Mutation_p.H423Y	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	727	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCTAGTTCATGATCACATCCC	0.393000														64			31		0	0	0.000339439	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393605	145393605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:145393605C>T	uc003lnt.3	+	4	1278	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P347L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	347							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGACGTTCCTTCCAGCTGT	0.527000														34			24		0	0	0.000586117	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202112	22202112	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:22202112G>A	uc003svg.3	-	12	1185	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	141					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343000														52			24		0	0	0.00047179	0	0
MTL5	9633	broad.mit.edu	37	11	68478367	68478367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68478367C>T	uc001ooc.3	-	8	1449	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	437					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTGGAAGTCCTGAAAATTTC	0.423000														33			23		0	0	0.000586117	0	0
TATDN2	9797	broad.mit.edu	37	3	10312420	10312420	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10312420C>T	uc011atr.2	+	3	2135	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	TATDN2_uc003bvg.2_Silent_p.F518F|TATDN2_uc003bvf.3_Silent_p.F518F|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	518						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTACAAAGTTCAGAAAAATTT	0.498000														67			10		0	0	0.000673444	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237554	23237554	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:23237554G>A	uc021wmq.1	+	3	603	c.329_splice	c.e3-1	p.G110_splice	abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Splice_Site_p.G109_splice|IGLL5_uc010gtu.2_Splice_Site|IGLL5_uc021wmr.1_Non-coding_Transcript	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	109	C region (By similarity to lambda light- chain).					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGTCCACACAGGTCAGCCCAA	0.577000														15			14		0	0	0.00185496	0	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10401606G>A	uc003bvt.3	-	12	2300	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	ATP2B2_uc003bvv.3_Missense_Mutation_p.R576C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R576C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R326C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000														48			30		0	0	0.001512	0	0
CSMD1	64478	broad.mit.edu	37	8	3443717	3443717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:3443717G>A	uc022aqr.1	-	8	1553	c.1163C>T	c.(1162-1164)aCc>aTc	p.T388I		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	389	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCTGACAGGTGATGCTTTT	0.468000														10			6		0	0	0.000157383	0	0
NOD2	64127	broad.mit.edu	37	16	50765683	50765683	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:50765683G>A	uc002egm.1	+	11	3181	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K	NOD2_uc010vgq.1_Missense_Mutation_p.E71K	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1026					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTTCTCTCTAGAGGAGGTTGA	0.493000														50			15		0	0	0.000566183	0	0
GLP2R	9340	broad.mit.edu	37	17	9783799	9783799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:9783799G>A	uc002gmd.1	+	10	1250	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	417					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AAACTTATACGACTTTTCATT	0.393000														82			47		0	0	0.000680045	0	0
CACNB2	783	broad.mit.edu	37	10	18803206	18803206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18803206G>A	uc001ipr.2	+	6	772	c.712G>A	c.(712-714)Gat>Aat	p.D238N	CACNB2_uc001ipt.2_Intron|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc010qcl.2_Intron|CACNB2_uc001ipu.3_Missense_Mutation_p.D210N|CACNB2_uc001ipv.3_Intron|CACNB2_uc009xka.2_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.D183N|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.2_Missense_Mutation_p.D184N|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.D184N|CACNB2_uc010qcn.2_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.D190N|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	238					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAAGAAAATGATATTCCAGC	0.398000														50			8		0	0	0.000157383	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770886	145770886	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:145770886G>A	uc003zds.1	-	6	2823	c.2268C>T	c.(2266-2268)gaC>gaT	p.D756D	ARHGAP39_uc011llk.1_Silent_p.D756D|ARHGAP39_uc003zdt.1_Silent_p.D756D	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	756	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.G755C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGCCCGCCGGTCACCCATGT	0.642000														42			8		0	0	0.000442599	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:22024875C>T	uc010gtj.1	+	2	219	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_uc002zvh.4_Missense_Mutation_p.R35C|PPIL2_uc002zvi.4_Missense_Mutation_p.R35C|PPIL2_uc002zvg.4_Missense_Mutation_p.R35C|PPIL2_uc011aij.2_Missense_Mutation_p.R35C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.R35H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000														120			74		0	0	0.000781405	0	0
FITM1	161247	broad.mit.edu	37	14	24601790	24601790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:24601790C>T	uc001wmf.2	+	1	735	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	213					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCATGGGCTTCCTGCCGGCGC	0.592000														40			34		0	0	0.000692331	0	0
UBE2S	27338	broad.mit.edu	37	19	55912905	55912905	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55912905C>T	uc002qkx.1	-	3	936	c.568G>A	c.(568-570)Ggg>Agg	p.G190R		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA.	190					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CCCTCAGCCCCTCCCGGGCCC	0.716000														29			17		0	0	0.00121646	0	0
CASZ1	54897	broad.mit.edu	37	1	10713679	10713679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:10713679G>A	uc001aro.3	-	10	2755	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	CASZ1_uc001arp.1_Missense_Mutation_p.S812F|CASZ1_uc009vmx.2_Missense_Mutation_p.S836F	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CACAGGCAGGGAGGTGCTCCC	0.711000														9			4		0	0	0.00024832	0	0
SAMD9	54809	broad.mit.edu	37	7	92731104	92731104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:92731104G>A	uc003umf.3	-	2	4577	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F	SAMD9_uc003umg.3_Missense_Mutation_p.S1436F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1436F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1436						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)			GAATAAGAGGGAAGCTAGAAA	0.353000														83			35		0	0	0.000491102	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541933	66541933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:66541933G>A	uc002lkk.2	+	6	1187	c.964G>A	c.(964-966)Gat>Aat	p.D322N	CCDC102B_uc002lki.2_Missense_Mutation_p.D322N|CCDC102B_uc002lkj.1_Missense_Mutation_p.D322N	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	322										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAACATAATGATGAAATGCA	0.363000														25			5		0	0	0.000602214	0	0
EGLN3	112399	broad.mit.edu	37	14	34419787	34419787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:34419787C>T	uc001wsa.4	-	0	498	c.172G>A	c.(172-174)Gac>Aac	p.D58N	EGLN3_uc001wry.3_Intron	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA.	58					apoptosis	cytoplasm|nucleus	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	p.D58V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	AGCTGGCCGTCCCGCAGGGCC	0.716000														15			13		0	0	0.00185496	0	0
OR5T1	390155	broad.mit.edu	37	11	56043953	56043953	+	Missense_Mutation	SNP	C	T	T	rs149057096	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:56043953C>T	uc001nio.1	+	0	839	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S280L(2)|p.T279T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCTACACTTCGGACAATGAC	0.408000														51			27		0	0	0.000878237	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931309	62931309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62931309C>T	uc001nwr.1	-	8	1631	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	544					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCACAGAGCTCCTCTGAGG	0.507000														50			7		0	0	0.000157383	0	0
CCNA1	8900	broad.mit.edu	37	13	37016767	37016767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:37016767C>T	uc001uvr.4	+	8	1713	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	CCNA1_uc010teo.2_Missense_Mutation_p.L411F|CCNA1_uc010abq.3_Missense_Mutation_p.L411F|CCNA1_uc010abp.3_Missense_Mutation_p.L411F|CCNA1_uc001uvs.4_Missense_Mutation_p.L454F|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	455					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GTGTGTGTCCCTCATGGAGCC	0.443000														35			11		0	0	0.000219431	0	0
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:139929414G>A	uc004ckp.1	+	2	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632000														81			40		0	0	0.000437636	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	A	A	rs76525337	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:125516744G>A	uc001lhk.1	-	11	2227	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	634					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCATGAACACGATCAGAGATT	0.532000														28			30		0	0	0.00178596	0	0
CLEC5A	23601	broad.mit.edu	37	7	141643715	141643715	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:141643715G>A	uc003vwv.1	-	3	386	c.189C>T	c.(187-189)acC>acT	p.T63T	CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Silent_p.T63T|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	63					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AGCTCCTTGTGGTAATGAAGC	0.418000														41			8		0	0	0.000442599	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54735196G>A	uc003pck.3	+	1	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	51								p.R51*(1)|p.R51R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000														32			9		0	0	0.000442599	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319276	67319276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67319276C>T	uc010cef.3	+	13	2578	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	PLEKHG4_uc002eso.4_Missense_Mutation_p.P760L|PLEKHG4_uc002esp.4_Missense_Mutation_p.P567L|PLEKHG4_uc002esq.4_Missense_Mutation_p.P760L|PLEKHG4_uc002ess.4_Missense_Mutation_p.P760L|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P679L	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	760	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P760P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AACTATTTCCCCGAGCTGGAT	0.617000														110			51		0	0	0.000781405	0	0
TRHDE	29953	broad.mit.edu	37	12	72893359	72893359	+	Missense_Mutation	SNP	G	A	A	rs147694605		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:72893359G>A	uc001sxa.3	+	5	1561	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	511					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E511K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTATCACAGGAAGTGCTGCA	0.453000														4			6		0	0	8.12818e-05	0	0
TJP3	27134	broad.mit.edu	37	19	3731984	3731984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:3731984C>T	uc010xhv.2	+	4	722	c.722C>T	c.(721-723)tCg>tTg	p.S241L	TJP3_uc010xhs.2_Missense_Mutation_p.S222L|TJP3_uc010xht.2_Missense_Mutation_p.S186L|TJP3_uc010xhu.2_Missense_Mutation_p.S231L|TJP3_uc010xhw.2_Missense_Mutation_p.S241L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	222	PDZ 2.					tight junction	protein binding	p.S241S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTACAGATTCGGGCCTGGCT	0.592000														28			22		0	0	0.00047179	0	0
WDHD1	11169	broad.mit.edu	37	14	55434105	55434105	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:55434105G>C	uc001xbm.2	-	16	2161	c.2071C>G	c.(2071-2073)Cct>Gct	p.P691A	WDHD1_uc010aom.2_Missense_Mutation_p.P208A|WDHD1_uc001xbn.2_Missense_Mutation_p.P568A	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	691						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCTTTACAAGGAATGCACCTG	0.348000														53			6		0	0	8.12818e-05	0	0
EML5	161436	broad.mit.edu	37	14	89154729	89154729	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:89154729C>T	uc021ryf.1	-	17	2877	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	EML5_uc021ryg.1_Silent_p.E876E|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	876						cytoplasm|microtubule		p.E875K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAAAGCCATCTCTTCAGTCC	0.443000														150			83		0	0	0.000781405	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000														257			7		0	0	8.12818e-05	0	0
RC3H1	149041	broad.mit.edu	37	1	173951933	173951933	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:173951933A>G	uc010pmt.2	-	3	787	c.700T>C	c.(700-702)Ttt>Ctt	p.F234L	RC3H1_uc001gju.4_Missense_Mutation_p.F234L|RC3H1_uc010pms.2_Missense_Mutation_p.F234L|RC3H1_uc001gjv.3_Missense_Mutation_p.F234L	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	234					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTTGAGGAAACCGTGGCTCC	0.433000														63			47		0	0	0.000781405	0	0
ZNF676	163223	broad.mit.edu	37	19	22363813	22363813	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:22363813G>A	uc002nqs.1	-	2	1024	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R236Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGGATCGATTAAAAGCT	0.363000														67			8		0	0	0.000442599	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461681	50461681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:50461681C>T	uc010ybh.2	-	7	1601	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	504					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGTGACCTCGAAGGAGCCC	0.692000														25			10		0	0	0.000219431	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955494	18955494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:18955494G>A	uc001mpg.3	-	0	1056	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	280					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTTGACGCTGCCTAAAGGAG	0.498000														68			14		0	0	0.000308642	0	0
RP1	6101	broad.mit.edu	37	8	55541288	55541288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:55541288G>A	uc003xsd.1	+	3	4994	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1616					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G1615G(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACAGTGGCGAACTTACCCA	0.398000														60			28		0	0	0.00106085	0	0
ABCC9	10060	broad.mit.edu	37	12	22001161	22001161	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:22001161G>C	uc001rfh.3	-	22	2809	c.2789C>G	c.(2788-2790)aCt>aGt	p.T930S	ABCC9_uc001rfi.1_Missense_Mutation_p.T930S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	930					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCTAAAGTAGTTTGGTCAGC	0.418000														15			9		0	0	0.00136819	0	0
BPIFB6	128859	broad.mit.edu	37	20	31623453	31623453	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:31623453G>A	uc010zuc.2	+	5	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V	BPIFB6_uc010zud.2_Silent_p.V123V	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	184						extracellular region	lipid binding										TGGTGTATGTGAACAGGAAGT	0.552000														52			27		0	0	0.00058488	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453416	91453417	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:91453416_91453417GG>TT	uc010bnz.2	+	9	1586_1587	c.1471_1472GG>TT	c.(1471-1473)ggg>TTg	p.G491L	MAN2A2_uc010boa.3_Missense_Mutation_p.G533L|MAN2A2_uc002bqc.3_Missense_Mutation_p.G491L|MAN2A2_uc010uql.2_Intron|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	491					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTGCTGAGCGGGGATTTCTTC	0.569000														595			10		0	0	6.4e-05	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670891	116670891	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:116670891C>T	uc001egc.1	+	5	1051	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	262										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GTTTTCAGGTCATGAGGCACC	0.562000														27			16		0	0	0.000422831	0	0
TNS3	64759	broad.mit.edu	37	7	47409130	47409131	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:47409130_47409131GG>AA	uc003tnw.3	-	16	1470_1471	c.1112_1113CC>TT	c.(1111-1113)ccc>cTT	p.P371L	TNS3_uc022acn.1_5'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	371						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGATTGCCTGGGGGCCACCTGG	0.614000														39			15		0	0	6.4e-05	0	0
DCAF16	54876	broad.mit.edu	37	4	17805749	17805749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:17805749G>A	uc003gpn.3	-	2	1077	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	DCAF16_uc021xmp.1_Missense_Mutation_p.P6S	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	6						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TCAGGAGAGGGATTTCTAGGA	0.393000														34			11		0	0	0.000978159	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608861	2608862	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:2608861_2608862GG>AA	uc001lwn.3	+	8	1298_1299	c.1190_1191GG>AA	c.(1189-1191)cgg>cAA	p.R397Q	KCNQ1_uc009ydp.1_Missense_Mutation_p.R181Q|KCNQ1_uc001lwo.3_Missense_Mutation_p.R270Q	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	397					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ATCTACATCCGGAAGGCCCCCC	0.639000														276			140		0	0	6.4e-05	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226788	43226788	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:43226788G>A	uc002iig.3	+	0	2105	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	77					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCAGACCCAGGCCTGTCCAG	0.662000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			11		0	0	0.00136819	0	0
FOCAD	54914	broad.mit.edu	37	9	20990168	20990168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:20990168G>A	uc003zog.1	+	43	5414	c.5051G>A	c.(5050-5052)tGg>tAg	p.W1684*	FOCAD_uc003zoh.1_Nonsense_Mutation_p.W1120*	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1684						integral to membrane	binding										GTGGTTGCATGGGCTGACCAC	0.498000														47			15		0	0	0.00121646	0	0
CEL	1056	broad.mit.edu	37	9	135945884	135945884	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:135945884C>A	uc010naa.1	+	9	1348	c.1332C>A	c.(1330-1332)ccC>ccA	p.P444P		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	441					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TTTCCCATCCCTCTCGGATGC	0.627000														481			10		9.31168e-06	5.53808e-05	0.00185496	1	0
NGF	4803	broad.mit.edu	37	1	115829102	115829102	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115829102G>A	uc021osd.1	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F	NGF_uc001efu.1_Silent_p.F105F	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	105					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CACCGACCTCGAAGTCCAGAT	0.587000														17			23		0	0	0.00188189	0	0
ADAD1	132612	broad.mit.edu	37	4	123317444	123317444	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:123317444C>T	uc003ieo.3	+	6	868	c.636C>T	c.(634-636)atC>atT	p.I212I	ADAD1_uc003iep.3_Silent_p.I212I|ADAD1_uc003ieq.3_Silent_p.I194I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	212					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCACAGATCGTTAAAGAAA	0.308000														40			8		0	0	0.000442599	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882950	228882950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:228882950C>T	uc002vpq.2	-	6	2667	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E874K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E874K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	874						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCTCAGCCTCCTGGGAACCA	0.502000														117			58		0	0	0.000781405	0	0
C3orf72	401089	broad.mit.edu	37	3	138668430	138668430	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:138668430C>T	uc003esx.1	+	1	300	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FOXL2_uc003esw.3_5'Flank|AK304483_uc011bmr.2_5'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	57										large_intestine(1)|lung(3)	4						AATCGGTCTCCCCAAGATGTG	0.542000														36			11		0	0	0.000673444	0	0
CHD3	1107	broad.mit.edu	37	17	7806313	7806313	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7806313C>T	uc002gjd.2	+	21	3608	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	CHD3_uc002gje.2_Silent_p.I1143I|CHD3_uc002gjf.2_Silent_p.I1143I|CHD3_uc002gjh.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1143	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCTGGGCATCAATCTGGCCA	0.542000														44			13		0	0	0.00185496	0	0
TIMD4	91937	broad.mit.edu	37	5	156378783	156378783	+	Missense_Mutation	SNP	C	T	T	rs147239944		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:156378783C>T	uc003lwh.2	-	2	476	c.419G>A	c.(418-420)aGa>aAa	p.R140K	TIMD4_uc010jii.2_Missense_Mutation_p.R140K	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	140	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGCTGTTCTGTGCGTGGT	0.502000														410			219		0	0	0.000781405	0	0
IWS1	55677	broad.mit.edu	37	2	128281289	128281289	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:128281289G>A	uc002ton.2	-	1	416	c.113C>T	c.(112-114)tCc>tTc	p.S38F	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	38					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCTGATCCGGAGTGTTGCTC	0.443000														152			71		0	0	0.000781405	0	0
SEC14L2	23541	broad.mit.edu	37	22	30806637	30806637	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:30806637G>A	uc003ahr.3	+	7	809	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SEC14L2_uc003ahq.3_Silent_p.E211E|SEC14L2_uc011aky.2_Silent_p.E128E|SEC14L2_uc011akx.2_Silent_p.E157E|SEC14L2_uc003ahs.3_Silent_p.E137E|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Silent_p.E35E|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.E35E|SEC14L2_uc010gvx.1_5'UTR|SEC14L2_uc010gvy.1_Silent_p.E35E	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	211	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCCTGAGTGAGGACACTCGTA	0.527000														65			23		0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179640909	179640909	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179640909G>A	uc021vsy.1	-	27	5907	c.5682C>T	c.(5680-5682)atC>atT	p.I1894I	TTN_uc021vsz.1_Silent_p.I1848I|TTN_uc021vta.1_Silent_p.I1848I|TTN_uc021vtb.1_Silent_p.I1848I|TTN_uc002unb.2_Silent_p.I1894I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1894	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1894T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGTAATGGATACCATCAT	0.483000														108			40		0	0	0.000437636	0	0
PITPNB	23760	broad.mit.edu	37	22	28307087	28307087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:28307087C>T	uc011akh.2	-	2	140	c.68G>A	c.(67-69)gGg>gAg	p.G23E	PITPNB_uc003adk.3_Missense_Mutation_p.G21E|PITPNB_uc003adl.3_Missense_Mutation_p.G21E	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	21					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						GTAAAGCTGCCCAACCTGATA	0.348000														23			18		0	0	0.00188189	0	0
ADH1B	125	broad.mit.edu	37	4	100232022	100232022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:100232022C>T	uc003hus.4	-	7	1087	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ADH1B_uc003hut.4_Missense_Mutation_p.D295N|ADH1B_uc011ceh.2_Missense_Mutation_p.D180N|ADH1B_uc011cei.1_Missense_Mutation_p.D295N	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	335					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCCATAAAATCAGCCACAAGT	0.368000														64			10		0	0	0.000978159	0	0
ADAM21	8747	broad.mit.edu	37	14	70924562	70924562	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70924562G>A	uc021rvq.1	+	0	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ADAM21_uc001xmd.3_Missense_Mutation_p.E116K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	116					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V115M(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGTTACGTGGAGGCAGCCCC	0.478000														72			25		0	0	0.00178596	0	0
GPR97	222487	broad.mit.edu	37	16	57719839	57719839	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57719839G>A	uc002emh.3	+	11	1643	c.1540_splice	c.e11+1	p.G514_splice	GPR97_uc010vhv.2_Splice_Site_p.G394_splice|GPR97_uc010cdd.3_Splice_Site|GPR97_uc010cde.3_Splice_Site_p.G122_splice	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTGCAAGGTGAGGCCCCT	0.587000														74			31		0	0	0.00058488	0	0
MYOM3	127294	broad.mit.edu	37	1	24411063	24411063	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:24411063C>T	uc001bin.4	-	15	2028	c.1865G>A	c.(1864-1866)tGg>tAg	p.W622*	MYOM3_uc001bim.4_Nonsense_Mutation_p.W279*|MYOM3_uc001bio.3_Nonsense_Mutation_p.W622*|MYOM3_uc001bip.1_Nonsense_Mutation_p.W279*	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	622	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACAGGATCCCATGTCAGGGA	0.498000														133			74		0	0	0.000781405	0	0
ZNF77	58492	broad.mit.edu	37	19	2939291	2939291	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:2939291G>A	uc002lws.4	-	1	249	c.118C>T	c.(118-120)Ctt>Ttt	p.L40F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAGGCAAGGTTCCTGCAG	0.562000														36			19		0	0	0.00074312	0	0
OR5M1	390168	broad.mit.edu	37	11	56380844	56380844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:56380844C>T	uc001nja.1	-	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCAGCAGGATCATGCACAGGT	0.478000														12			10		0	0	0.000673444	0	0
BAZ2A	11176	broad.mit.edu	37	12	57000447	57000448	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:57000447_57000448CC>AA	uc001slq.1	-	10	2362_2363	c.2168_2169GG>TT	c.(2167-2169)cgg>cTT	p.R723L	BAZ2A_uc001slp.1_Missense_Mutation_p.R721L|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.R691L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	723	Lys-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GACACTCTCCCCGTTGAACCTT	0.386000														503			9		0	0	6.4e-05	0	0
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:147090735A>C	uc001epq.3	+	7	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P	BCL9_uc010ozr.1_Silent_p.P184P	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	258	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592000			T	"""IGH@, IGL@"""	B-ALL									76			11		0	0	0.000586117	0	0
MATN1	4146	broad.mit.edu	37	1	31189098	31189098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:31189098C>T	uc001brz.3	-	4	899	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LOC100129196_uc001bsb.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	289	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAAGTTCTCTGGCCTCACA	0.577000														40			13		0	0	0.000219431	0	0
GRM7	2917	broad.mit.edu	37	3	7456807	7456807	+	Silent	SNP	G	A	A	rs139183375		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:7456807G>A	uc003bqm.2	+	4	1405	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T377T|GRM7_uc003bql.2_Silent_p.T377T|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	377					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.T377M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAAGTTGACGATTAGTGGGT	0.413000														17			12		0	0	0.00136819	0	0
GFPT2	9945	broad.mit.edu	37	5	179744010	179744010	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:179744010G>A	uc003mlw.1	-	10	1105	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	336					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATTGAAAACTGATTCTGGCTG	0.438000														80			40		0	0	0.000437636	0	0
C11orf40	143501	broad.mit.edu	37	11	4598979	4598979	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4598979C>T	uc010qyg.2	-	0	72	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	24										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		gttgtgggtcccctctgtcca	0.567000														8			4		0	0	0.00024832	0	0
RBP3	5949	broad.mit.edu	37	10	48389692	48389692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:48389692G>A	uc001jez.3	-	0	1300	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	396	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)	GGCCAAGAAGGAGTTTCTGTG	0.647000														21			16		0	0	0.000566183	0	0
CNGA3	1261	broad.mit.edu	37	2	99012882	99012882	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:99012882A>C	uc010fij.3	+	7	1402	c.1261A>C	c.(1261-1263)Att>Ctt	p.I421L	CNGA3_uc002syt.3_Missense_Mutation_p.I417L|CNGA3_uc002syu.3_Missense_Mutation_p.I399L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	417					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGCCAAGATTGATTCCAT	0.512000														47			24		0	0	0.000375601	0	0
SCAP	22937	broad.mit.edu	37	3	47476599	47476599	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:47476599C>T	uc003crh.1	-	2	406	c.151G>A	c.(151-153)Gga>Aga	p.G51R	SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	51					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGTCCTGTTCCTGGCAAGGGG	0.532000														40			13		0	0	0.000219431	0	0
POU4F1	5457	broad.mit.edu	37	13	79176586	79176586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:79176586G>A	uc001vkv.3	-	1	458	c.224C>T	c.(223-225)cCt>cTt	p.P75L	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	75					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGCTTGAAAGGATGGCTCTT	0.677000														10			3		0	0	0.00024832	0	0
PPM1E	22843	broad.mit.edu	37	17	57057591	57057591	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:57057591G>A	uc002iwx.3	+	6	1594	c.1467G>A	c.(1465-1467)agG>agA	p.R489R	PPM1E_uc010ddd.3_Silent_p.R252R	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	498	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TATTCCTGAGGGACATGAACA	0.443000														19			16		0	0	0.000566183	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003344	75003344	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:75003344T>C	uc004ecj.2	-	0	1736	c.1543A>G	c.(1543-1545)Act>Gct	p.T515A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	515										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACATGATAGTTGCCTCAGAT	0.478000														8			27		0	0	0.001512	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322292	79322292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:79322292G>A	uc010mpk.3	-	7	5022	c.4898C>T	c.(4897-4899)tCc>tTc	p.S1633F	PRUNE2_uc022bih.1_Missense_Mutation_p.S1455F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1633					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGGAAAAGGAATCACCATC	0.363000														26			20		0	0	0.00121646	0	0
ILDR1	286676	broad.mit.edu	37	3	121712024	121712024	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:121712024C>T	uc003ees.3	-	6	1775	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	ILDR1_uc003eeq.3_Silent_p.R492R|ILDR1_uc003eer.3_Silent_p.R480R|ILDR1_uc010hrg.3_Silent_p.R435R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	524						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCCTTTTTTCCTGCTATTCT	0.647000														3			6		0	0	0.00116845	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490560	20490560	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:20490560G>A	uc001ytf.1	+	3		c.540G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTTTACAACAGAAGAAGCCTT	0.458000														451			15		0	0	0.00074312	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100499	139100499	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:139100499A>G	uc021xrw.1	-	10	1596	c.1316T>C	c.(1315-1317)gTt>gCt	p.V439A		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	439					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGAAAGGGCAACCATGAAGAG	0.443000														9			4		0	0	0.00024832	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030294	10030294	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:10030294C>T	uc002wno.3	+	6	1470	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F359F|ANKRD5_uc010gbz.3_Silent_p.F170F	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	359	EF-hand.						calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AGAACGACTTCGTGATGGTGT	0.527000														28			5		0	0	0.000602214	0	0
LOC644189	644189	broad.mit.edu	37	19	36913367	36913368	+	RNA	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:36913367_36913368GG>AA	uc002odz.1	+	0		c.1292_1293GG>AA								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		CAATGGAGAAGGCCCAGGGCCC	0.490000														23			9		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82784993	82784993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:82784993C>T	uc003uhx.2	-	1	1253	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	PCLO_uc003uhv.2_Missense_Mutation_p.E322K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	310	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGATTTTTCATGTCCAGGC	0.547000														28			14		0	0	0.000219431	0	0
TG	7038	broad.mit.edu	37	8	133900697	133900697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:133900697C>T	uc003ytw.3	+	9	2686	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	882	Thyroglobulin type-1 7.				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)		TACCCGGGGTCCTACTCAGAC	0.552000														26			15		0	0	0.000219431	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017364	93017364	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:93017364C>T	uc022axs.1	-	5	1084	c.897G>A	c.(895-897)ggG>ggA	p.G299G	RUNX1T1_uc003yfc.2_Silent_p.G213G|RUNX1T1_uc010mam.3_Silent_p.G213G|RUNX1T1_uc003yfe.2_Silent_p.G203G|RUNX1T1_uc003yfd.3_Silent_p.G240G|RUNX1T1_uc022axo.1_Silent_p.G240G|RUNX1T1_uc010mao.3_Silent_p.G213G|RUNX1T1_uc011lgi.2_Silent_p.G251G|RUNX1T1_uc022axp.1_Silent_p.G240G|RUNX1T1_uc022axq.1_Silent_p.G240G|RUNX1T1_uc022axr.1_Silent_p.G240G|RUNX1T1_uc022axt.1_Silent_p.G240G|RUNX1T1_uc022axu.1_Silent_p.G220G|RUNX1T1_uc022axv.1_Silent_p.G240G|RUNX1T1_uc003yfb.2_Silent_p.G203G|RUNX1T1_uc003yff.1_Silent_p.G203G	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	240					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCGCCTCTTCCCGTTTTCGT	0.532000														101			35		0	0	0.000509022	0	0
MLL2	8085	broad.mit.edu	37	12	49444788	49444788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49444788G>A	uc001rta.4	-	9	2678	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	893	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCAAGCAAGGGAGATAAGGA	0.647000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				52			38		0	0	0.00148497	0	0
DNER	92737	broad.mit.edu	37	2	230456412	230456412	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:230456412G>A	uc002vpv.3	-	1	616	c.469C>T	c.(469-471)Cct>Tct	p.P157S		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	157					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAGTAGCAGGAACAGGCTGA	0.552000														48			15		0	0	0.000566183	0	0
PSD4	23550	broad.mit.edu	37	2	113940600	113940600	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:113940600C>T	uc002tjc.3	+	1	750	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.P188P|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	189					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGTCTCCCCACGCCCCCTG	0.642000														30			20		0	0	0.00188189	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330858	39330858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:39330858G>A	uc021uuh.1	-	7	1122	c.1111C>T	c.(1111-1113)Cca>Tca	p.P371S	HNRNPL_uc002ojj.1_Missense_Mutation_p.P27S|HNRNPL_uc010ege.1_Missense_Mutation_p.P27S|HNRNPL_uc002ojk.3_Missense_Mutation_p.P27S|HNRNPL_uc002ojl.3_Missense_Mutation_p.P27S|HNRNPL_uc021uui.1_Missense_Mutation_p.P238S|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Missense_Mutation_p.P27S|HNRNPL_uc010xun.2_Silent_p.P78P	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	371	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCGGGTGGTGGGGGAGGGGGT	0.612000														14			15		0	0	0.000566183	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146807	70146807	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:70146807G>A	uc004dyn.3	-	8	1545	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	SLC7A3_uc004dyo.3_Silent_p.T457T	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	457					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTCCCCATAGGGTCAACTTCT	0.458000														20			35		0	0	0.000814825	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646701	4646701	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:4646701C>T	uc002fyu.2	+	4	1278	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	ZMYND15_uc002fyv.2_Silent_p.F416F|ZMYND15_uc002fyt.2_Silent_p.F416F	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	416							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GCCCGGGCTTCTCCAGACACC	0.627000														149			41		0	0	0.000680045	0	0
C16orf46	123775	broad.mit.edu	37	16	81094907	81094907	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:81094907G>A	uc002fgc.4	-	3	1306	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	C16orf46_uc010chf.3_Silent_p.I349I|C16orf46_uc010vno.2_Silent_p.I76I	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	349								p.V348L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTTTCGGGTGATCACAGGAG	0.512000														102			32		0	0	0.00170553	0	0
KCNIP1	30820	broad.mit.edu	37	5	170149737	170149737	+	Silent	SNP	G	A	A	rs147147696	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:170149737G>A	uc003mas.3	+	5	910	c.381G>A	c.(379-381)tcG>tcA	p.S127S	KCNIP1_uc003map.3_Silent_p.S125S|KCNIP1_uc003mat.3_Silent_p.S116S|KCNIP1_uc010jjp.3_Silent_p.S88S|KCNIP1_uc010jjq.3_Silent_p.S141S	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	127	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.S127S(2)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCTCTGTCGATTTTATTGA	0.438000														20			9		0	0	0.000978159	0	0
NEFM	4741	broad.mit.edu	37	8	24775886	24775886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:24775886G>A	uc003xed.4	+	2	2551	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	NEFM_uc011lac.1_Missense_Mutation_p.D622N|NEFM_uc010lue.3_Missense_Mutation_p.D464N	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	840	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGCCCAGCAGATGAAAAGAA	0.493000														36			23		0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13770895	13770895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:13770895C>T	uc003jfd.2	-	55	9610	c.9568G>A	c.(9568-9570)Gga>Aga	p.G3190R	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3190	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTTTTCTCCATATATGAAC	0.448000									Kartagener syndrome					26			11		0	0	0.000978159	0	0
EBF2	64641	broad.mit.edu	37	8	25708156	25708156	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:25708156G>A	uc003xes.2	-	14	1915	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	550					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTGAAGGGGAGCCTTGGGGCC	0.507000														52			14		0	0	0.000566183	0	0
C9orf152	401546	broad.mit.edu	37	9	112963360	112963360	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:112963360G>A	uc011lwk.2	-	1	1142	c.588C>T	c.(586-588)ttC>ttT	p.F196F	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	196										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGAGTGCTGAATTTTAAGC	0.502000														58			25		0	0	0.000720815	0	0
SCN1A	6323	broad.mit.edu	37	2	166848506	166848506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:166848506G>A	uc002udo.4	-	27	5506	c.5279C>T	c.(5278-5280)tCt>tTt	p.S1760F	SCN1A_uc010fpk.3_Missense_Mutation_p.S1732F|SCN1A_uc021vsb.1_Missense_Mutation_p.S1749F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1760						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTCCAACAGATGGGTTCCC	0.453000														49			22		0	0	0.000295444	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592606	+	Missense_Mutation	DNP	TT	GA	GA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:167592605_167592606TT>GA	uc010kkp.3	+	5	895_896	c.764_765TT>GA	c.(763-765)gtt>gGA	p.V255G		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAGC	0.579000														17			3		0	0	6.4e-05	0	0
OR51F2	119694	broad.mit.edu	37	11	4843236	4843236	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4843236G>A	uc010qyn.2	+	0	621	c.621G>A	c.(619-621)agG>agA	p.R207R		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R207R(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACAATAGGATCAACAGCA	0.463000														54			18		0	0	0.000958276	0	0
HEATR5A	25938	broad.mit.edu	37	14	31828259	31828259	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:31828259G>A	uc001wrf.4	-	14	2261	c.2076C>T	c.(2074-2076)aaC>aaT	p.N692N	HEATR5A_uc010ami.3_Silent_p.N297N|HEATR5A_uc001wrg.1_Silent_p.N281N|HEATR5A_uc010tpk.1_Silent_p.N692N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	686							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGCACAGAGGTTTCCTGTTG	0.448000														44			11		0	0	0.000978159	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888156	39888156	+	Silent	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:39888156C>G	uc004abp.3	+	3	1172	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	381						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCCAAAACCCTTCTGGAACA	0.458000														65			67		0	0	0.000781405	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494421	65494421	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:65494421C>T	uc003xvi.3	+	0	1627	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	LOC401463_uc003xvh.3_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGGCTGCCTCCTGCCCGGAGA	0.667000														14			7		0	0	0.000157383	0	0
GSS	2937	broad.mit.edu	37	20	33539607	33539607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:33539607C>T	uc002xbg.3	-	1	129	c.49G>A	c.(49-51)Gag>Aag	p.E17K	GSS_uc010zuo.2_Missense_Mutation_p.E17K|GSS_uc010zup.2_5'UTR|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	17					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CGTGCCAGCTCCTCTAGCTGC	0.597000														33			10		0	0	0.00136819	0	0
NCOA1	8648	broad.mit.edu	37	2	24930526	24930526	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:24930526C>T	uc002rfk.3	+	10	2446	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	NCOA1_uc010eye.3_Silent_p.S729S|NCOA1_uc002rfi.3_Silent_p.S578S|NCOA1_uc002rfj.3_Silent_p.S729S|NCOA1_uc002rfl.3_Silent_p.S729S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	729									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAAACTCCAGTATAAAAC	0.398000			T	PAX3	alveolar rhadomyosarcoma									26			24		0	0	0.000375601	0	0
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:49974618C>T	uc010rhz.2	+	0	676	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTCCTGGTCTCCTGCGTGGTC	0.488000														53			15		0	0	0.000219431	0	0
CACNG7	59284	broad.mit.edu	37	19	54445412	54445412	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54445412C>T	uc002qcr.2	+	4	788	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	231				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGGGCCAGTTCCTGCAGCCCG	0.657000														75			31		0	0	0.000409698	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400102	13400102	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:13400102G>A	uc002gob.1	-	1	1431	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	211						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCCATGGTGATCTGCCCGT	0.602000														55			12		0	0	0.00136819	0	0
CCDC158	339965	broad.mit.edu	37	4	77288456	77288456	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:77288456C>T	uc003hkb.4	-	10	1974	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	607										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCTTAAGTTCCTTTAGTTCCA	0.403000														56			32		0	0	0.00128727	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174528	150174528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150174528G>A	uc003whj.3	+	4	1988	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	553						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G553R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCATCTTTGGAGCAGACTTT	0.483000														73			23		0	0	0.000878237	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601050	48601050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48601050C>T	uc010wmr.2	+	11	1831	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	520					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTTTCGAACCCATCCTACTCT	0.473000														45			22		0	0	0.000586117	0	0
RAD23A	5886	broad.mit.edu	37	19	13059531	13059531	+	Silent	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:13059531G>T	uc002mvw.1	+	4	613	c.504G>T	c.(502-504)acG>acT	p.T168T	RAD23A_uc002mvz.1_Silent_p.T168T|RAD23A_uc010xmw.1_Silent_p.T3T	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	168	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CGATGCTGACGGAGATCATGT	0.617000								Nucleotide excision repair (NER)						157			9		0.000978159	0.005779	0.000978159	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389532	150389532	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150389532G>A	uc003who.3	+	2	246	c.158G>A	c.(157-159)gGt>gAt	p.G53D		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	53						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGAAGCTGGGTTCCCAGACC	0.468000														36			19		0	0	0.00121646	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892267	9892267	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:9892267G>A	uc003gmc.3	-	8	1243	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	SLC2A9_uc003gmd.3_Silent_p.F365F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	394					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGGTCCCAAAGAAGAGGCCCA	0.527000														47			9		0	0	0.000978159	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511253	64511253	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:64511253C>T	uc003jtp.3	-	18	3148	c.2334G>A	c.(2332-2334)agG>agA	p.R778R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.R399R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	778	Spacer.				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)		CATCAAATTTCCTAGGCCAGT	0.378000														34			20		0	0	0.00152264	0	0
USP17L2	377630	broad.mit.edu	37	8	11995377	11995377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:11995377G>A	uc003wvc.1	-	0	893	c.893C>T	c.(892-894)cCt>cTt	p.P298L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	298					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AAGGCACTCAGGATATTGCAC	0.483000														153			12		0	0	0.00185496	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179541542	179541542	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:179541542C>T	uc003mlq.3	-	10	1381	c.1084_splice	c.e10-1	p.I362_splice	RASGEF1C_uc003mlr.3_Splice_Site_p.I362_splice|RASGEF1C_uc003mlp.4_Splice_Site_p.I211_splice	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	362	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATGACAATCTGGAAGAAAG	0.602000														26			11		0	0	0.000978159	0	0
PLCL2	23228	broad.mit.edu	37	3	17051375	17051375	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:17051375G>A	uc011awc.2	+	2	609	c.513G>A	c.(511-513)aaG>aaA	p.K171K	PLCL2_uc010het.1_Silent_p.K53K|PLCL2_uc011awd.2_Silent_p.K53K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	179	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CATCTAAGAAGGATTCTGAGA	0.408000														28			11		0	0	0.000978159	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110496	151110496	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:151110496G>A	uc001ewv.3	-	8	969	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SEMA6C_uc001ewu.3_Silent_p.L211L|SEMA6C_uc001eww.3_Intron|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	211	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCGGAGCGGAGTGGGGGCT	0.627000														36			6		0	0	8.12818e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55943312	55943312	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:55943312G>A	uc010qhy.1	-	13	1892	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PCDH15_uc010qhq.2_Silent_p.I499I|PCDH15_uc010qhr.2_Silent_p.I494I|PCDH15_uc021pqv.1_Silent_p.I494I|PCDH15_uc021pqw.1_Silent_p.I506I|PCDH15_uc010qht.2_Silent_p.I501I|PCDH15_uc021pqx.1_Silent_p.I494I|PCDH15_uc001jjv.1_Silent_p.I472I|PCDH15_uc021pqy.1_Silent_p.I494I|PCDH15_uc021pqz.1_Silent_p.I472I|PCDH15_uc010qhv.1_Silent_p.I494I|PCDH15_uc010qhw.1_Silent_p.I457I|PCDH15_uc010qhx.1_Silent_p.I494I|PCDH15_uc010qhz.1_Silent_p.I494I|PCDH15_uc010qia.1_Silent_p.I472I|PCDH15_uc001jju.1_Silent_p.I494I|PCDH15_uc010qib.1_Silent_p.I472I|PCDH15_uc001jjw.3_Silent_p.I494I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	494	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.Q498*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAATATTGACGATGACTGGCT	0.393000										HNSCC(58;0.16)				35			30		0	0	0.000491102	0	0
VPS13D	55187	broad.mit.edu	37	1	12343419	12343419	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12343419C>T	uc001atv.3	+	20	5401	c.5260C>T	c.(5260-5262)Caa>Taa	p.Q1754*	VPS13D_uc001atw.3_Nonsense_Mutation_p.Q1754*|VPS13D_uc001atx.3_Nonsense_Mutation_p.Q942*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1754					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)		AAAGGAAGTCCAAGACAAGGA	0.478000														24			15		0	0	0.000566183	0	0
FOXK1	221937	broad.mit.edu	37	7	4794141	4794141	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:4794141C>T	uc003snc.1	+	2	808	c.798C>T	c.(796-798)taC>taT	p.Y266Y	FOXK1_uc003sna.1_Silent_p.Y103Y|FOXK1_uc003snb.1_Silent_p.Y266Y	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	266					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCTCCAGTTACCGCTTTGTGC	0.622000														43			14		0	0	0.00121646	0	0
RANBP2	5903	broad.mit.edu	37	2	109384509	109384509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:109384509C>T	uc002tem.4	+	19	7640	c.7514C>T	c.(7513-7515)cCa>cTa	p.P2505L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2505					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACAACACCAAAAGCAGTG	0.383000														176			104		0	0	0.000781405	0	0
RALYL	138046	broad.mit.edu	37	8	85441753	85441753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:85441753G>A	uc003yct.4	+	1	370	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RALYL_uc003ycq.4_Missense_Mutation_p.R66Q|RALYL_uc003ycr.4_Missense_Mutation_p.R66Q|RALYL_uc003ycs.4_Missense_Mutation_p.R66Q|RALYL_uc010lzy.3_Missense_Mutation_p.R66Q	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	66	RRM.						RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGAGTGAGCGACATGCAAGA	0.428000														37			12		0	0	0.00185496	0	0
CCL23	6368	broad.mit.edu	37	17	34340243	34340243	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:34340243C>T	uc002hkt.1	-	3	428	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CCL23_uc002hks.1_Silent_p.K136K	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	119					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	AAGTTCAATTCTTCCTGGTCT	0.453000														36			5		0	0	0.00116845	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414996	42414996	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:42414996G>A	uc003gwr.2	-	36	3664	c.3432C>T	c.(3430-3432)atC>atT	p.I1144I	ATP8A1_uc003gwq.2_Silent_p.I370I|ATP8A1_uc003gws.2_Silent_p.I1129I|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1144					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.I1144I(2)|p.I1129I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTGTGAAACGATTCCATTTT	0.438000														20			6		0	0	8.12818e-05	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633434	70633434	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:70633434A>G	uc001xly.3	-	1	2460	c.1706T>C	c.(1705-1707)gTa>gCa	p.V569A	SLC8A3_uc001xlw.3_Missense_Mutation_p.V569A|SLC8A3_uc001xlx.3_Missense_Mutation_p.V569A|SLC8A3_uc001xlz.3_Missense_Mutation_p.V569A|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	569	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGTCCCTTCTACTGTCCTAAA	0.473000														22			19		0	0	0.00152264	0	0
DHX35	60625	broad.mit.edu	37	20	37634887	37634887	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:37634887C>A	uc002xjh.3	+	11	1140	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_uc010zwa.2_Silent_p.P215P|DHX35_uc010zwc.2_Silent_p.P339P|DHX35_uc010zwb.2_Silent_p.P215P	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	370	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517000														268			9		0.000274275	0.00162582	0.000274275	1	0
RREB1	6239	broad.mit.edu	37	6	7229544	7229544	+	Silent	SNP	C	T	T	rs142150270	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:7229544C>T	uc003mxb.3	+	9	1704	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	RREB1_uc021yky.1_Silent_p.P404P|RREB1_uc003mxc.3_Silent_p.P404P|RREB1_uc010jnx.3_Silent_p.P404P|RREB1_uc021ykz.1_Silent_p.P404P|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	404					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCAGGACCCCGGCTGCACCA	0.602000														36			11		0	0	0.000673444	0	0
FCGBP	8857	broad.mit.edu	37	19	40354371	40354371	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:40354371C>T	uc002omp.4	-	34	16106	c.16098G>A	c.(16096-16098)ggG>ggA	p.G5366G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5366	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGTTTCCCAGCATGGT	0.577000														24			14		0	0	0.000308642	0	0
WDR6	11180	broad.mit.edu	37	3	49050182	49050182	+	Silent	SNP	C	T	T	rs138381601		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:49050182C>T	uc003cvj.2	+	1	1443	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	WDR6_uc011bbx.1_Silent_p.F306F|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.F379F|WDR6_uc011bbz.1_Silent_p.F354F	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	405					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.P435S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCGAGGGCTTCGGATTGTGTG	0.562000														31			10		0	0	0.000978159	0	0
KCNK6	9424	broad.mit.edu	37	19	38817565	38817565	+	Missense_Mutation	SNP	G	A	A	rs150615852	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:38817565G>A	uc002oic.3	+	1	762	c.655G>A	c.(655-657)Gac>Aac	p.D219N	KCNK6_uc002oid.3_Missense_Mutation_p.D85N	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	219						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CGGCCTGGGCGACTACGTGCC	0.632000														111			60		0	0	0.000781405	0	0
MUTYH	4595	broad.mit.edu	37	1	45796895	45796895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:45796895C>T	uc001cnm.3	-	13	1642	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	MUTYH_uc001cnf.3_Missense_Mutation_p.E451K|MUTYH_uc009vxo.3_Missense_Mutation_p.E451K|MUTYH_uc001cng.3_Missense_Mutation_p.E462K|MUTYH_uc001cnj.3_Missense_Mutation_p.E359K|MUTYH_uc001cni.3_Missense_Mutation_p.E451K|MUTYH_uc001cnh.3_Missense_Mutation_p.E452K|MUTYH_uc001cnl.3_Missense_Mutation_p.E465K|MUTYH_uc009vxp.3_Missense_Mutation_p.E479K|MUTYH_uc001cnn.3_Missense_Mutation_p.E466K|MUTYH_uc001cno.3_Missense_Mutation_p.E359K|MUTYH_uc010oll.2_Missense_Mutation_p.E160K	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	476	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGAAATTCCTCCTGCGTCAGC	0.498000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					70			46		0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668481	176668481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:176668481C>T	uc001gkz.3	+	7	4156	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	998					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P998H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCTGGGCCCCTTAGACAC	0.522000														84			47		0	0	0.000781405	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319553	43319553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:43319553C>T	uc010dnk.3	+	8	1262	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	SLC14A1_uc002lbi.4_Missense_Mutation_p.S159F|SLC14A1_uc010xcn.2_Missense_Mutation_p.S291F|SLC14A1_uc002lbf.4_Missense_Mutation_p.S291F|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.S186F|SLC14A1_uc002lbh.4_Missense_Mutation_p.S183F|SLC14A1_uc002lbj.4_Missense_Mutation_p.S347F|SLC14A1_uc002lbk.4_Missense_Mutation_p.S291F|SLC14A1_uc021ujg.1_Missense_Mutation_p.L242F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	291						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAACAGCTCTCTGGCCTGC	0.557000														38			13		0	0	0.000219431	0	0
GON4L	54856	broad.mit.edu	37	1	155630057	155630057	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:155630057G>A	uc010pgi.2	-	9	2250	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	GON4L_uc021paz.1_Silent_p.I528I|GON4L_uc010pgg.2_Silent_p.I433I|GON4L_uc010pgh.2_Silent_p.I537I|GON4L_uc009wqt.3_Silent_p.I517I|GON4L_uc001flh.3_Silent_p.I666I|GON4L_uc001fll.3_Silent_p.I548I|GON4L_uc001flk.3_Silent_p.I537I|GON4L_uc001flm.3_Silent_p.I537I|GON4L_uc009wqu.3_Silent_p.I381I|GON4L_uc009wqv.3_Silent_p.I265I|GON4L_uc009wqw.3_Silent_p.I517I|GON4L_uc001flj.3_Silent_p.I528I|GON4L_uc001fli.3_Silent_p.I548I|GON4L_uc001flo.3_Silent_p.I482I|GON4L_uc001fln.3_Silent_p.I594I|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Silent_p.I548I	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1137					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCAGGGTGGATAACAGGGG	0.532000														76			16		0	0	0.00121646	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:181726163C>T	uc009wxt.3	+	29	4425	c.4230C>T	c.(4228-4230)ttC>ttT	p.F1410F	CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1410					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGGTCTTCCCCTTCTTCT	0.488000														69			10		0	0	0.000442599	0	0
SENP7	57337	broad.mit.edu	37	3	101136570	101136570	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:101136570G>A	uc003dut.3	-	4	460	c.349C>T	c.(349-351)Cta>Tta	p.L117L	SENP7_uc003duu.3_Silent_p.L117L|SENP7_uc003duv.3_Silent_p.L84L|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	117					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCTAGGTAGGGTCTTTCTG	0.373000														58			15		0	0	0.00074312	0	0
IDH1	3417	broad.mit.edu	37	2	209101890	209101890	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:209101890C>T	uc002vcs.3	-	9	1404	c.1158G>A	c.(1156-1158)gtG>gtA	p.V386V	IDH1_uc002vct.3_Silent_p.V386V|IDH1_uc002vcu.3_Silent_p.V386V	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	386					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CAGAACGTTGCACACTAACGG	0.353000			Mis		gliobastoma									9			6		0	0	8.12818e-05	0	0
ADD1	118	broad.mit.edu	37	4	2929961	2929962	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:2929961_2929962CC>AA	uc003gfq.3	+	14	2206_2207	c.2018_2019CC>AA	c.(2017-2019)ccc>cAA	p.P673Q	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.P642Q|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	642					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAACTCTCCCCGATCTGTCCC	0.559000														310			8		0	0	6.4e-05	0	0
NRP2	8828	broad.mit.edu	37	2	206608133	206608133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:206608133G>A	uc002vaw.3	+	8	2289	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S	NRP2_uc002vat.3_Missense_Mutation_p.G500S|NRP2_uc002vau.3_Missense_Mutation_p.G500S|NRP2_uc002vav.3_Missense_Mutation_p.G500S|NRP2_uc002vax.3_Missense_Mutation_p.G500S|NRP2_uc002vay.3_Missense_Mutation_p.G500S|NRP2_uc010fud.3_Missense_Mutation_p.G500S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	500	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G500C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GACAGTGAAAGGTGTCATCAT	0.577000														67			27		0	0	0.000720815	0	0
SPTBN1	6711	broad.mit.edu	37	2	54886356	54886356	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:54886356C>A	uc002rxu.3	+	30	6558	c.6309C>A	c.(6307-6309)ccC>ccA	p.P2103P	SPTBN1_uc002rxx.3_Silent_p.P2090P|SPTBN1_uc002rxy.3_Silent_p.P248P|SPTBN1_uc010you.2_Silent_p.P93P	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2103					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.P2103P(2)|p.P2090P(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGCCTTCTCCCGAGCCGAGCA	0.577000														269			10		0.00136819	0.0080633	0.00136819	1	0
MAP3K11	4296	broad.mit.edu	37	11	65375744	65375744	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65375744G>A	uc001oew.3	-	1	1408	c.915C>T	c.(913-915)gtC>gtT	p.V305V	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.V48V|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	305	Protein kinase.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.D304N(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGCACCTCCAGACGTCACTGC	0.627000														25			18		0	0	0.00121646	0	0
BCL11A	53335	broad.mit.edu	37	2	60687661	60687662	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:60687661_60687662CC>AA	uc002sae.1	-	3	2613_2614	c.2385_2386GG>TT	c.(2383-2388)gtgggg>gtTTgg	p.G796W	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.G644W|BCL11A_uc002saf.1_Missense_Mutation_p.G762W	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	796					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.G796G(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACGTCCTTCCCCACCTGGCCAT	0.480000			T	IGH@	B-CLL									648			16		0	0	6.4e-05	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638486	48638487	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48638486_48638487CC>TT	uc003cub.1	-	7	932_933	c.887_888GG>AA	c.(886-888)tgg>tAA	p.W296*		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	296					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCGGGCTGGCCCAGCCAGGACC	0.584000														27			6		0	0	6.4e-05	0	0
KIF21A	55605	broad.mit.edu	37	12	39709037	39709037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:39709037G>A	uc001rly.3	-	30	4373	c.3953C>T	c.(3952-3954)tCc>tTc	p.S1318F	KIF21A_uc001rlv.3_Intron|KIF21A_uc001rlw.3_Intron|KIF21A_uc001rlx.3_Missense_Mutation_p.S1305F|KIF21A_uc001rlz.3_Intron|KIF21A_uc010skl.2_Intron|KIF21A_uc001rlt.3_5'Flank|KIF21A_uc001rlu.3_5'UTR	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1318					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTACCTTCTGGAGGATCTGCT	0.383000														195			34		0	0	0.00128727	0	0
PHGDH	26227	broad.mit.edu	37	1	120269632	120269633	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:120269632_120269633GG>TT	uc001ehz.3	+	4	644_645	c.417_418GG>TT	c.(415-420)atggga>atTTga	p.139_140MG>I*	PHGDH_uc009whl.3_Nonsense_Mutation_p.41_42MG>I*|PHGDH_uc009whm.3_Nonsense_Mutation_p.37_38MG>I*|PHGDH_uc001eib.3_Nonsense_Mutation_p.105_106MG>I*	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	139					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCAGTTCATGGGAACAGAGCT	0.559000														583			9		0	0	6.4e-05	0	0
SGCG	6445	broad.mit.edu	37	13	23808844	23808844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:23808844C>T	uc001uom.2	+	2	445	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SGCG_uc009zzv.2_Missense_Mutation_p.S97F|SGCG_uc009zzw.2_Missense_Mutation_p.S97F	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	97					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.H96Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAAATACACTCCAGAGTGGTA	0.338000														91			33		0	0	0.000692331	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54930765	54930765	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:54930765C>T	uc001sgc.4	+	28	3190	c.3111C>T	c.(3109-3111)atC>atT	p.I1037I	NCKAP1L_uc010sox.2_Silent_p.I579I|NCKAP1L_uc010soy.2_Silent_p.I987I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1037					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAAAGCCATCATCCAGGTGT	0.413000														38			13		0	0	0.000958276	0	0
C6orf15	29113	broad.mit.edu	37	6	31079934	31079934	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31079934T>C	uc003nsk.1	-	1	202	c.202A>G	c.(202-204)Agg>Ggg	p.R68G	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	68										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCATTAGACCTAGGGTCCAGA	0.572000														59			17		0	0	0.00121646	0	0
LSM10	84967	broad.mit.edu	37	1	36859698	36859698	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:36859698G>A	uc001cao.1	-	1	183	c.33C>T	c.(31-33)acC>acT	p.T11T	LSM10_uc021olj.1_Silent_p.T11T	NM_032881	NP_116270	Q969L4	LSM10_HUMAN	Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA.	11					RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				TCTCAGAGATGGTCCGCTCCT	0.602000														30			16		0	0	0.000566183	0	0
AP1G1	164	broad.mit.edu	37	16	71784130	71784130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:71784130G>A	uc010cgg.3	-	13	1704	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	AP1G1_uc021tkz.1_Missense_Mutation_p.L252F|AP1G1_uc002fbb.3_Missense_Mutation_p.L487F|AP1G1_uc002faz.3_5'Flank|AP1G1_uc021tky.1_Missense_Mutation_p.L467F	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	464					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAATCACCAAGAATTGCTTTG	0.368000														137			56		0	0	0.000781405	0	0
IDO2	169355	broad.mit.edu	37	8	39845389	39845389	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39845389G>A	uc010lwy.1	+	7	731	c.489_splice	c.e7-1	p.G163_splice	IDO2_uc003xno.1_Splice_Site|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	150					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCTTCCCAAGGAACCTGGAG	0.507000														12			6		0	0	0.00116845	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444125	82444125	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:82444125G>A	uc002bgt.1	-	17	2839	c.2670C>T	c.(2668-2670)gtC>gtT	p.V890V	EFTUD1_uc002bgu.1_Silent_p.V839V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	890					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAACAAAACAGACACCCATGA	0.473000														39			10		0	0	0.000442599	0	0
C12orf43	64897	broad.mit.edu	37	12	121441993	121441994	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121441993_121441994GG>TT	uc009zxa.1	-	5	867_868	c.844_845CC>AA	c.(844-846)cca>AAa	p.P282K	C12orf43_uc001tzh.1_Missense_Mutation_p.P251K|C12orf43_uc010szo.1_Missense_Mutation_p.P210K|C12orf43_uc010szp.1_Missense_Mutation_p.P241K|C12orf43_uc001tzi.1_Missense_Mutation_p.P252K	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	251										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGCTGGTGGGAATGGAGAG	0.569000														747			13		0	0	6.4e-05	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:40001459C>T	uc001rmb.2	-	2	1604	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000														72			18		0	0	0.00074312	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332800	100332800	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:100332800G>A	uc021sxl.1	-	1		c.353C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TGCTGGAGAAGATGTTGCGGC	0.632000														43			5		0	0	0.00116845	0	0
THSD7B	80731	broad.mit.edu	37	2	138033575	138033575	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:138033575G>A	uc002tva.1	+	10	2386	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G686R	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)		TGAAGCCTGTGGAAAGGGGTT	0.393000														5			4		0	0	0.000602214	0	0
CELSR2	1952	broad.mit.edu	37	1	109793986	109793986	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:109793986G>T	uc001dxa.4	+	0	1346	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	429	Cadherin 3.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGAGACAAGGGGAGCAATGC	0.577000														411			10		0.000673444	0.00398534	0.000673444	1	0
FER1L5	90342	broad.mit.edu	37	2	97363284	97363284	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:97363284A>T	uc010fia.3	+	36	4186	c.4186A>T	c.(4186-4188)Aag>Tag	p.K1396*	FER1L5_uc002sws.4_Nonsense_Mutation_p.K114*|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Nonsense_Mutation_p.K113*	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1396						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCTCTACAGAAAGTTCTGGTT	0.557000														15			11		0	0	0.000219431	0	0
TOX3	27324	broad.mit.edu	37	16	52497959	52497959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:52497959C>T	uc002egw.2	-	2	466	c.295G>A	c.(295-297)Gga>Aga	p.G99R	TOX3_uc010vgt.1_Missense_Mutation_p.G94R	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	99					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AATTCACTTCCCTGGGAAGGC	0.532000														40			27		0	0	0.000720815	0	0
ZNF529	57711	broad.mit.edu	37	19	37038984	37038984	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:37038984G>A	uc002oeh.4	-	4	678	c.476C>T	c.(475-477)aCt>aTt	p.T159I	ZNF529_uc010xth.2_Missense_Mutation_p.T159I|ZNF529_uc010xti.2_Missense_Mutation_p.T141I|ZNF529_uc002oeg.4_Missense_Mutation_p.T54I	NM_020951	NP_001139122	Q6P280	ZN529_HUMAN	Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CCGAGGTAAAGTAAGAGATTC	0.363000														84			36		0	0	0.00195071	0	0
ITPR1	3708	broad.mit.edu	37	3	4829647	4829647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:4829647G>A	uc003bqc.3	+	50	6937	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_uc021wsi.1_Missense_Mutation_p.R2163Q|ITPR1_uc021wsj.1_Missense_Mutation_p.R2148Q|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATTAGACCGAACAATGGAA	0.383000														17			6		0	0	0.000157383	0	0
MYOC	4653	broad.mit.edu	37	1	171605701	171605701	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171605701C>T	uc001ghu.3	-	2	901	c.879G>A	c.(877-879)acG>acA	p.T293T	MYOC_uc010pmk.2_Silent_p.T235T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	293	Olfactomedin-like.		T -> K (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCGGACATCCGTGCCAACTG	0.537000														45			9		0	0	0.000442599	0	0
TMCO4	255104	broad.mit.edu	37	1	20072049	20072049	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:20072049C>G	uc001bcn.3	-	9	1095	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R	TMCO4_uc001bco.1_Missense_Mutation_p.G285R|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Missense_Mutation_p.G285R|TMCO4_uc001bcq.1_Missense_Mutation_p.G285R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	285						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCGAGCCACCCCGTGACGGCG	0.587000														108			28		0	0	0.001512	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823376	38823376	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:38823376G>A	uc003avs.1	-	1	859	c.762C>T	c.(760-762)ttC>ttT	p.F254F	KCNJ4_uc003avt.1_Silent_p.F254F|KCNJ4_uc021wpp.1_Silent_p.F254F	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	254					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCGACACCAGGAAGATGCGGT	0.607000														41			5		0	0	0.00116845	0	0
NIPBL	25836	broad.mit.edu	37	5	37064648	37064648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:37064648G>A	uc003jkl.4	+	46	8568	c.8069G>A	c.(8068-8070)cGa>cAa	p.R2690Q	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2690					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGTCAAAACGAAATTCAGAC	0.373000														83			17		0	0	0.000566183	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720311	720311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:720311G>A	uc003siu.2	-	2	363	c.230C>T	c.(229-231)tCc>tTc	p.S77F	PRKAR1B_uc021zyi.1_Missense_Mutation_p.S77F|PRKAR1B_uc003siv.3_Missense_Mutation_p.S77F|PRKAR1B_uc021zyj.1_Missense_Mutation_p.S77F|PRKAR1B_uc021zyk.1_Missense_Mutation_p.S77F|PRKAR1B_uc003siw.2_Missense_Mutation_p.S77F	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	77	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.S77F(2)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTCATCATGGGAGTCCGACTG	0.602000														53			31		0	0	0.00058488	0	0
POLR2A	5430	broad.mit.edu	37	17	7402454	7402454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7402454C>T	uc002ghf.4	+	8	1818	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	POLR2A_uc002ghe.3_Missense_Mutation_p.P478S	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	478					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCGCATTCTCCCATGGTCTAC	0.557000														77			37		0	0	0.00170553	0	0
CNTN4	152330	broad.mit.edu	37	3	2908472	2908473	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:2908472_2908473CC>TT	uc003bpc.3	+	7	830_831	c.491_492CC>TT	c.(490-492)tcc>tTT	p.S164F	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S164F|CNTN4_uc003bpd.1_Missense_Mutation_p.S164F	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S164Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATACCCTTCCTATCAGGATA	0.381000														39			14		0	0	6.4e-05	0	0
OR4D1	26689	broad.mit.edu	37	17	56233033	56233033	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56233033C>T	uc010wno.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCCCCAATATCCTAGATAACT	0.542000														56			46		0	0	0.000781405	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349157	38349157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38349157C>T	uc003cib.2	+	2	794	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	SLC22A14_uc010hhc.1_Missense_Mutation_p.R241C|SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	241						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTTGTTCTTTCGCTTTGGCAT	0.572000														96			62		0	0	0.000781405	0	0
SLC43A1	8501	broad.mit.edu	37	11	57252616	57252616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:57252616C>T	uc001nkk.3	-	14	1751	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	SLC43A1_uc001nkl.3_Missense_Mutation_p.G545R	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	545					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	p.N544N(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGGCCCATCCCATTGGCGGCG	0.572000														35			12		0	0	0.000219431	0	0
TMC3	342125	broad.mit.edu	37	15	81624945	81624945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:81624945C>T	uc021ssk.1	-	21	3118	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	1040						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGTCAGATTCCGTGAGGGAT	0.617000														25			10		0	0	0.000442599	0	0
DIAPH2	1730	broad.mit.edu	37	X	96212903	96212903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:96212903C>T	uc004efu.4	+	15	2087	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	DIAPH2_uc004eft.4_Missense_Mutation_p.P564L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	564	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGCCGCCTCCACCACCACCC	0.557000														10			13		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9084701	9084701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9084701C>T	uc002mkp.3	-	0	7318	c.7114G>A	c.(7114-7116)Gat>Aat	p.D2372N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2372	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						TTGATCAGATCAGAAGAAGAA	0.448000														17			12		0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21252801	21252802	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:21252801_21252802CC>AA	uc002red.3	-	10	1566_1567	c.1438_1439GG>TT	c.(1438-1440)ggg>TTg	p.G480L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	480	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTTCATCCCCAGTGCAGTCA	0.416000														555			13		0	0	6.4e-05	0	0
FBN2	2201	broad.mit.edu	37	5	127730894	127730894	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:127730894C>T	uc003kuu.3	-	8	1591	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	FBN2_uc003kuv.2_Silent_p.T351T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M383K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGCATTTTCGTCATTCTCC	0.547000														22			6		0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179645916	179645916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179645916C>T	uc021vsy.1	-	20	3680	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	TTN_uc021vsz.1_Missense_Mutation_p.G1106E|TTN_uc021vta.1_Missense_Mutation_p.G1106E|TTN_uc021vtb.1_Missense_Mutation_p.G1106E|TTN_uc002unb.2_Missense_Mutation_p.G1152E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1152	Ig-like 4.						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)			AGTGTATTCTCCAGCATCATC	0.368000														19			12		0	0	0.000308642	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34538	34538	+	RNA	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrGL000241.1:34538T>C	uc011mgv.2	-	2		c.346A>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		tctttttctcttcttatcttt	0.289000														64			11		0	0	0.000720815	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831410	55831410	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55831410G>T	uc010esw.1	-	5	494	c.321C>A	c.(319-321)ttC>ttA	p.F107L	TMEM150B_uc010yfu.1_Missense_Mutation_p.F107L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript|TMEM150B_uc002qki.3_Missense_Mutation_p.F107L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	107						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GTCTCACCTGGAAATTGCCTA	0.637000														53			29		6.38683e-12	3.82405e-11	0.001512	1	0
RNF148	378925	broad.mit.edu	37	7	122342400	122342400	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:122342400C>A	uc003vkk.1	-	0	622	c.405G>T	c.(403-405)acG>acT	p.T135T	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	135	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTTTACTGCCCGTACCTTGAT	0.463000														120			5		0.00116845	0.0068918	0.00116845	1	0
SLC15A1	6564	broad.mit.edu	37	13	99337031	99337031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:99337031C>T	uc001vno.3	-	22	2151	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	692					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TTACTCTTTTCCAGTCTGTTT	0.468000														62			22		0	0	0.00047179	0	0
ASIC3	9311	broad.mit.edu	37	7	150746353	150746353	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150746353C>T	uc003wio.2	+	0	749	c.381C>T	c.(379-381)cgC>cgT	p.R127R	ASIC3_uc003win.2_Silent_p.R127R|ASIC3_uc003wip.2_Silent_p.R127R|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	127					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTTCCTGCGCGCCCTGGGCC	0.697000														38			20		0	0	0.00121646	0	0
ODZ2	57451	broad.mit.edu	37	5	167489169	167489169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:167489169C>T	uc010jjd.3	+	6	1414	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y	ODZ2_uc003lzq.2_Missense_Mutation_p.H351Y|ODZ2_uc003lzr.4_Missense_Mutation_p.H240Y	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.Q472R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTCACAAATTCACATCAGTCA	0.493000														24			7		0	0	8.12818e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82582120	82582120	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:82582120C>T	uc003uhx.2	-	4	8438	c.8149G>A	c.(8149-8151)Gaa>Aaa	p.E2717K	PCLO_uc003uhv.2_Missense_Mutation_p.E2717K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2648					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCATCTTCTTTATACTGA	0.373000														15			7		0	0	8.12818e-05	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442576	95442576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:95442576C>T	uc003uoc.4	+	3	569	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	DYNC1I1_uc003uod.4_Missense_Mutation_p.P81S|DYNC1I1_uc003uob.3_Missense_Mutation_p.P81S|DYNC1I1_uc003uoe.4_Missense_Mutation_p.P98S|DYNC1I1_uc010lfl.3_Missense_Mutation_p.P87S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	98	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCTATGTCTCCCTCCTCGAA	0.458000														17			13		0	0	0.000219431	0	0
KIAA0195	9772	broad.mit.edu	37	17	73490710	73490710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:73490710G>A	uc010wsa.2	+	17	2632	c.2440G>A	c.(2440-2442)Ggg>Agg	p.G814R	KIAA0195_uc002jnz.4_Missense_Mutation_p.G804R|KIAA0195_uc010wsb.2_Missense_Mutation_p.G444R|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	804					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.D813D(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGAAGAAGGGATCGGGGA	0.597000														28			5		0	0	0.00116845	0	0
MYH10	4628	broad.mit.edu	37	17	8395693	8395693	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:8395693C>T	uc002glm.3	-	33	4689	c.4593G>A	c.(4591-4593)gaG>gaA	p.E1531E	MYH10_uc002gll.3_Silent_p.E1500E|MYH10_uc010cnx.3_Silent_p.E1509E	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1500					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTCAAACTCCTCCTTGGCCT	0.592000														132			32		0	0	0.00058488	0	0
CNKSR2	22866	broad.mit.edu	37	X	21508620	21508620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:21508620C>T	uc004czx.2	+	5	1085	c.605C>T	c.(604-606)tCg>tTg	p.S202L	CNKSR2_uc004czw.3_Missense_Mutation_p.S202L|CNKSR2_uc011mjn.2_Missense_Mutation_p.S202L|CNKSR2_uc011mjo.2_Missense_Mutation_p.S202L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	202					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATATCCCTGTCGTCAGATCCT	0.398000														13			31		0	0	0.00058488	0	0
FAT4	79633	broad.mit.edu	37	4	126372516	126372516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126372516G>A	uc003ifj.4	+	8	10345	c.10345G>A	c.(10345-10347)Gaa>Aaa	p.E3449K	FAT4_uc011cgp.2_Missense_Mutation_p.E1747K|FAT4_uc003ifi.1_Missense_Mutation_p.E927K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3449	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCAGGGAATGAAAATGGTGC	0.463000														58			8		0	0	0.000157383	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541689	18541689	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:18541689G>A	uc002gud.2	-	7	736	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	108	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ACAACGCCCGGCCCCGCACCG	0.512000														109			25		0	0	0.000878237	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836052	14836052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:14836052C>T	uc001rcd.3	-	3	672	c.535G>A	c.(535-537)Gat>Aat	p.D179N	GUCY2C_uc009zhz.2_Missense_Mutation_p.D179N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	179					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.D179N(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGGGCAGATCGTTGGTTTTC	0.378000														16			10		0	0	0.000442599	0	0
BRPF3	27154	broad.mit.edu	37	6	36177996	36177996	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36177996C>T	uc003olv.4	+	5	2094	c.1870C>T	c.(1870-1872)Cca>Tca	p.P624S	BRPF3_uc010jwb.3_Missense_Mutation_p.P624S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P624S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	624	Bromo.				histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGTTTAGGTTCCAGATTACCT	0.438000														29			15		0	0	0.000219431	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111178	7111178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7111178G>A	uc001mfc.2	+	0	1014	c.827G>A	c.(826-828)aGa>aAa	p.R276K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	276	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCTGAGCAGAGGCTCCCAT	0.662000														19			6		0	0	0.00116845	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104961395	104961395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:104961395G>A	uc004elz.1	+	6	1564	c.808G>A	c.(808-810)Gga>Aga	p.G270R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	270	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCATTCTTCGGATTCAGTGG	0.438000														8			27		0	0	0.00127121	0	0
RNF182	221687	broad.mit.edu	37	6	13977773	13977773	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:13977773C>T	uc021ylw.1	+	2	916	c.423C>T	c.(421-423)tcC>tcT	p.S141S	RNF182_uc021ylx.1_Silent_p.S141S|RNF182_uc003nbe.3_Silent_p.S141S|RNF182_uc003nbf.3_Silent_p.S141S|RNF182_uc003nbg.3_Silent_p.S141S|RNF182_uc021yly.1_Silent_p.S141S	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	141						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GAGAGAGCTCCCCGTCCCTGA	0.557000														26			5		0	0	0.00116845	0	0
BIRC6	57448	broad.mit.edu	37	2	32824895	32824896	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:32824895_32824896CC>TT	uc010ezu.3	+	69	14054_14055	c.13920_13921CC>TT	c.(13918-13923)ccccct>ccTTct	p.P4641S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4641	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGTTCACCCCCTCTTGTGAA	0.391000														53			29		0	0	6.4e-05	0	0
FAM194A	131831	broad.mit.edu	37	3	150421441	150421441	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:150421441G>A	uc003eyg.3	-	0	302	c.245C>T	c.(244-246)aCg>aTg	p.T82M	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	82								p.V81V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCGATGTCCGTGACCTTCCA	0.627000														29			23		0	0	0.000375601	0	0
OR10J5	127385	broad.mit.edu	37	1	159505536	159505536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:159505536G>A	uc010piw.2	-	0	262	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTTGGTTATGAAAAATGAGG	0.438000														21			19		0	0	0.000958276	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514990	241514990	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:241514990C>T	uc002vzi.3	+	7	1473	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RNPEPL1_uc002vzj.3_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	260					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGAGCTTCTTCCCGGAGCTGA	0.652000														50			22		0	0	0.000375601	0	0
HOXB1	3211	broad.mit.edu	37	17	46607775	46607775	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:46607775C>T	uc002ink.1	-	0	498	c.492G>A	c.(490-492)aaG>aaA	p.K164K	HOXB1_uc021tzf.1_Silent_p.K164K	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	164						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGTGTTTCCTTGTCCTCGG	0.597000														28			16		0	0	0.000422831	0	0
OR14C36	127066	broad.mit.edu	37	1	248512884	248512884	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248512884C>G	uc010pzl.2	+	0	808	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L270M(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CACCCAGGATCTGATCCTTTC	0.453000														38			7		0	0	8.12818e-05	0	0
ANXA2R	389289	broad.mit.edu	37	5	43039764	43039764	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:43039764G>A	uc003jnf.3	-	0	684	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	129							receptor activity										CTGTCCCAGGGATGGAGAGGA	0.642000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			8		0	0	0.000157383	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	A	A	rs141559059		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143141184G>A	uc011ktg.2	+	0	639	c.639G>A	c.(637-639)atG>atA	p.M213I	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(4)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000														57			28		0	0	0.001512	0	0
ITGA2B	3674	broad.mit.edu	37	17	42466799	42466799	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:42466799C>T	uc002igt.1	-	0	75	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	15					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGCACCCACTCCAGAAGCCAG	0.607000														38			11		0	0	0.00136819	0	0
CCDC135	84229	broad.mit.edu	37	16	57738858	57738858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:57738858G>A	uc002emi.3	+	5	859	c.770G>A	c.(769-771)aGg>aAg	p.R257K	CCDC135_uc002emj.3_Missense_Mutation_p.R257K|CCDC135_uc002emk.3_Missense_Mutation_p.R192K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	257						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGCAGCAGGTTTGAGCAG	0.557000														31			15		0	0	0.000958276	0	0
HMCN1	83872	broad.mit.edu	37	1	186024595	186024595	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:186024595C>T	uc001grq.1	+	44	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2311	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478000														6			3		0	0	0.00024832	0	0
RHEB	6009	broad.mit.edu	37	7	151168657	151168657	+	Silent	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:151168657A>G	uc003wkh.1	-	4	723	c.310T>C	c.(310-312)Ttg>Ctg	p.L104L		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Homo sapiens Ras homolog enriched in brain (RHEB), mRNA.	104					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		ACCATATCCAACAATTTGCCA	0.289000														93			40		0	0	0.00195071	0	0
OR5F1	338674	broad.mit.edu	37	11	55761558	55761558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55761558G>A	uc010riv.2	-	0	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAAAGTGGGGGACTGTCACAG	0.448000														35			5		0	0	0.000602214	0	0
PTPRT	11122	broad.mit.edu	37	20	40738973	40738973	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:40738973C>T	uc002xkg.3	-	23	3438	c.3254_splice	c.e23+1	p.S1085_splice	PTPRT_uc010ggj.3_Splice_Site_p.S1104_splice|PTPRT_uc010ggi.3_Splice_Site_p.S288_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1085	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGACTTACCTGCAGTGGAC	0.617000														23			5		0	0	0.000602214	0	0
ENAM	10117	broad.mit.edu	37	4	71507923	71507923	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:71507923G>A	uc011caw.1	+	8	1061	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	260					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCTAAAGGGAGTCAGGGAG	0.502000														42			28		0	0	0.000720815	0	0
FLRT2	23768	broad.mit.edu	37	14	86087949	86087949	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:86087949T>G	uc021rxf.1	+	0	91	c.91T>G	c.(91-93)Tcc>Gcc	p.S31A	FLRT2_uc001xvr.3_Missense_Mutation_p.S31A|FLRT2_uc010atd.3_Missense_Mutation_p.S31A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	31					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCACAGGTGTCCAAACTCCT	0.542000														63			37		0	0	0.00128727	0	0
AMN1	196394	broad.mit.edu	37	12	31842014	31842014	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:31842014C>T	uc001rkq.4	-	5	796	c.630G>A	c.(628-630)ggG>ggA	p.G210G	AMN1_uc001rko.4_Silent_p.G192G|AMN1_uc010skc.2_Silent_p.G192G|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	210										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CTTCGACAGCCCCATCAGTCA	0.363000														22			8		0	0	0.000157383	0	0
MCOLN1	57192	broad.mit.edu	37	19	7589984	7589984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:7589984C>T	uc002mgo.3	+	1	310	c.169C>T	c.(169-171)Cga>Tga	p.R57*	MCOLN1_uc010dvh.2_Nonsense_Mutation_p.R57*|MCOLN1_uc002mgp.3_5'UTR	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	57					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGACAAGTTTCGAGCCAAGGG	0.617000														43			12		0	0	0.00185496	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138453	126138453	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:126138453G>A	uc001uhe.1	+	8	2442	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D324N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	812						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAATATAAAGACCACCTCAG	0.483000														41			35		0	0	0.000814825	0	0
PPM1B	5495	broad.mit.edu	37	2	44428836	44428837	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:44428836_44428837CC>AA	uc002rtt.3	+	1	926_927	c.498_499CC>AA	c.(496-501)acccag>acAAag	p.Q167K	PPM1B_uc002rts.3_Missense_Mutation_p.Q167K|PPM1B_uc002rtu.3_Missense_Mutation_p.Q167K|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.Q167K|PPM1B_uc002rtx.3_Missense_Mutation_p.Q167K	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	167					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTTTTCTACCCAGGATCACAA	0.436000														702			12		0	0	6.4e-05	0	0
TLX3	30012	broad.mit.edu	37	5	170737323	170737323	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:170737323G>A	uc003mbf.3	+	1	673	c.591G>A	c.(589-591)gcG>gcA	p.A197A	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGAGGGCGGCGCTCGCCA	0.632000			T	BCL11B	T-ALL									12			4		0	0	0.000602214	0	0
C1orf87	127795	broad.mit.edu	37	1	60491080	60491080	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:60491080C>T	uc001czs.2	-	7	1228	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	374							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACTTTATTTCATTTTGGTAA	0.378000														65			15		0	0	0.000566183	0	0
TEX13A	56157	broad.mit.edu	37	X	104464033	104464033	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:104464033C>T	uc004ema.3	-	3	949	c.837G>A	c.(835-837)acG>acA	p.T279T	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.R282Q	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	281						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ACCAGGGGTTCGTGGTTCCAG	0.512000														10			21		0	0	0.000720815	0	0
NPSR1	387129	broad.mit.edu	37	7	34888270	34888270	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:34888270C>T	uc003teh.1	+	7	1148	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.P340P|NPSR1_uc010kwt.1_Silent_p.P187P|NPSR1_uc010kwu.1_Silent_p.P130P|NPSR1_uc010kwv.1_Silent_p.P274P|NPSR1_uc003tei.1_Silent_p.P340P|NPSR1_uc010kww.1_Silent_p.P329P|NPSR1_uc011kar.1_Silent_p.P274P	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	340						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTCTTTCCCCTGCAGGTAAG	0.512000														90			43		0	0	0.000680045	0	0
POM121L12	285877	broad.mit.edu	37	7	53103759	53103759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:53103759G>A	uc003tpz.3	+	0	411	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	132								p.R132R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AACCCAGGACGGACCTGGAGC	0.721000														30			14		0	0	0.000566183	0	0
LHX3	8022	broad.mit.edu	37	9	139089222	139089222	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:139089222G>A	uc004cgz.3	-	5	1277	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Silent_p.F381F	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	381					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GGCTGGCAGGGAAGTCGGGGT	0.706000														18			10		0	0	0.00136819	0	0
COL1A1	1277	broad.mit.edu	37	17	48271376	48271376	+	Silent	SNP	G	A	A	rs74315120		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48271376G>A	uc002iqm.3	-	24	1821	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	565	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGGGGTCCGGGGCGACCAT	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							40			18		0	0	0.000958276	0	0
UNC79	57578	broad.mit.edu	37	14	94008890	94008890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:94008890C>T	uc001ybv.1	+	10	1155	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	UNC79_uc001ybs.1_Missense_Mutation_p.H358Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	535						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGTGGTTTCACTCCACTGC	0.502000														41			21		0	0	0.00152264	0	0
DOCK2	1794	broad.mit.edu	37	5	169435601	169435601	+	Splice_Site	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:169435601A>G	uc003maf.3	+	31	3253	c.3173_splice	c.e31+1	p.K1058_splice	DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.K550_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1058	Interaction with CRKL.				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	p.K1058T(2)		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)			ATCCTGAATAAGTAGGTTGCA	0.468000														25			5		0	0	0.000602214	0	0
PPP6R1	22870	broad.mit.edu	37	19	55753748	55753748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55753748C>T	uc002qjv.3	-	4	996	c.913G>A	c.(913-915)Gag>Aag	p.E305K	PPP6R1_uc002qjw.4_Missense_Mutation_p.E243K	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	243	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						ACCCACTTCTCCAGGGTGGCC	0.672000														46			12		0	0	0.00136819	0	0
FAM47C	442444	broad.mit.edu	37	X	37028258	37028258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:37028258C>T	uc004ddl.2	+	0	1827	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	592										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGGGTGTCCAGTCTCCCC	0.652000														16			30		0	0	0.00058488	0	0
PCDH15	65217	broad.mit.edu	37	10	55581882	55581882	+	Silent	SNP	C	T	T	rs113363047	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:55581882C>T	uc010qhy.1	-	34	6020	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Silent_p.T722T|PCDH15_uc021pqy.1_Silent_p.T1870T|PCDH15_uc021pqz.1_Silent_p.T1845T|PCDH15_uc010qhv.1_Silent_p.T1865T|PCDH15_uc010qhw.1_Silent_p.T1828T|PCDH15_uc010qhx.1_Silent_p.T1799T|PCDH15_uc010qhz.1_Silent_p.T1870T|PCDH15_uc010qia.1_Silent_p.T1848T|PCDH15_uc001jju.1_Silent_p.T1868T|PCDH15_uc010qib.1_Silent_p.T1845T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1868					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACACACTGTCGTTGTTGATA	0.418000										HNSCC(58;0.16)				56			67		0	0	0.000781405	0	0
FAM5B	57795	broad.mit.edu	37	1	177225132	177225132	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:177225132C>T	uc001glf.3	+	2	659	c.347C>T	c.(346-348)cCa>cTa	p.P116L	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	116						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTCTTGCCCCAGAGTTTATC	0.468000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			11		0	0	0.000673444	0	0
SCN11A	11280	broad.mit.edu	37	3	38926811	38926811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38926811G>A	uc021wvy.1	-	16	3231	c.3032C>T	c.(3031-3033)cCc>cTc	p.P1011L	SCN11A_uc010hhn.1_Missense_Mutation_p.P89L	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1011					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTGCTTTTTGGGAACCATCTC	0.423000														12			10		0	0	0.000978159	0	0
OR52J3	119679	broad.mit.edu	37	11	5068545	5068545	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5068545C>T	uc010qyv.2	+	0	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264*(2)|p.R264L(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTACTCATCGATTTGGACA	0.438000														19			12		0	0	0.000978159	0	0
ZNF665	79788	broad.mit.edu	37	19	53668737	53668737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53668737G>A	uc010eqm.1	-	3	1106	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTGTCTGATGGGTAGTCAGG	0.438000														101			37		0	0	0.000814825	0	0
CELSR3	1951	broad.mit.edu	37	3	48669416	48669416	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:48669416C>T	uc003cuf.1	-	41	10862	c.10862G>A	c.(10861-10863)cGa>cAa	p.R3621Q	CELSR3_uc003cug.3_Missense_Mutation_p.R195Q|CELSR3_uc011bbp.2_Silent_p.P181P|CELSR3_uc010hke.3_Missense_Mutation_p.R67Q|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Missense_Mutation_p.R216Q|CELSR3_uc003cui.3_Missense_Mutation_p.R216Q|CELSR3_uc003cuj.3_Missense_Mutation_p.R216Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTATAGCCTCGGACAAGAGG	0.612000														63			14		0	0	0.000308642	0	0
INHBA	3624	broad.mit.edu	37	7	41730026	41730026	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:41730026C>T	uc003thq.3	-	1	738	c.503G>A	c.(502-504)aGg>aAg	p.R168K	INHBA_uc003thr.3_Missense_Mutation_p.R168K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	168					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACTTTGGTCCTGGTCCTGTT	0.587000										TSP Lung(11;0.080)				65			33		0	0	0.00128727	0	0
LILRA5	353514	broad.mit.edu	37	19	54823336	54823336	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54823336C>T	uc002qfe.3	-	3	327	c.207G>A	c.(205-207)ggG>ggA	p.G69G	LILRA5_uc002qff.3_Silent_p.G57G|LILRA5_uc010yev.2_Silent_p.G69G|LILRA5_uc010yew.2_Silent_p.G57G|LILRA5_uc002qfg.1_Silent_p.G69G|LILRA5_uc002qfh.1_Silent_p.G57G	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	69	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity	p.Q68*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTCCAGGGTCCCCTGACACC	0.587000														77			33		0	0	0.00058488	0	0
ACPP	55	broad.mit.edu	37	3	132063801	132063801	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:132063801G>A	uc010htp.2	+	6	769	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	ACPP_uc003eon.3_Missense_Mutation_p.A194T|ACPP_uc003eop.4_Missense_Mutation_p.A227T	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	227						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCCTCCTGGGCCACTGAGGA	0.408000														23			20		0	0	0.00047179	0	0
PHKA1	5255	broad.mit.edu	37	X	71877458	71877458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:71877458C>T	uc004eax.4	-	8	1199	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PHKA1_uc004eay.4_Missense_Mutation_p.G300R|PHKA1_uc011mqi.2_Missense_Mutation_p.G300R	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	300					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTTTATATCCATCTCGTAGA	0.403000														11			17		0	0	0.00152264	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242235	18242235	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:18242235C>T	uc001ipo.2	+	1	303	c.30C>T	c.(28-30)tcC>tcT	p.S10S	SLC39A12_uc001ipn.2_Silent_p.S10S|SLC39A12_uc001ipp.2_Silent_p.S10S|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.V9L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCAGTATCCTGGGTGCCAT	0.517000														48			27		0	0	0.000586117	0	0
CHD4	1108	broad.mit.edu	37	12	6705212	6705212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:6705212G>A	uc001qpo.3	-	12	2148	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHD4_uc001qpn.3_Nonsense_Mutation_p.Q655*|CHD4_uc001qpp.3_Nonsense_Mutation_p.Q659*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	662	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCGTAATCCTGGATCTCCACA	0.463000														105			17		0	0	0.000566183	0	0
DBT	1629	broad.mit.edu	37	1	100715332	100715332	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:100715332C>T	uc001dta.3	-	0	78	c.45G>A	c.(43-45)ggG>ggA	p.G15G	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Silent_p.G15G	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	15					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTACCAGCTTCCCCGCATTCC	0.582000														59			16		0	0	0.000566183	0	0
IGH	0	broad.mit.edu	37	16	33020746	33020746	+	RNA	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:33020746T>C	uc021thd.1	+	0		c.94T>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		CAGTAACCACTACATGAGCTG	0.567000														203			90		0	0	0.000781405	0	0
NCAM1	4684	broad.mit.edu	37	11	113103477	113103477	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113103477A>G	uc021qqp.1	+	12	1907	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	NCAM1_uc001pnp.3_Missense_Mutation_p.N476S|NCAM1_uc021qqo.1_Missense_Mutation_p.N476S|NCAM1_uc001pnq.3_Missense_Mutation_p.N486S|NCAM1_uc001pnr.3_Missense_Mutation_p.N476S	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	488	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGAACTACAACTGTACTGCA	0.488000														57			10		0	0	0.000978159	0	0
AKAP3	10566	broad.mit.edu	37	12	4736421	4736421	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:4736421G>A	uc001qnb.4	-	3	1891	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	549					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTCAACGAAGCTCCGTGCAT	0.527000														11			16		0	0	0.000422831	0	0
APOBR	55911	broad.mit.edu	37	16	28506011	28506011	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:28506011C>T	uc002dqb.2	+	0	42	c.9C>T	c.(7-9)ttC>ttT	p.F3F	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_5'Flank|CLN3_uc002dpo.3_5'Flank|CLN3_uc002dpm.3_5'Flank|CLN3_uc010vcu.2_5'Flank|CLN3_uc010vcv.2_5'Flank|CLN3_uc002dpp.3_5'Flank|CLN3_uc002dpt.1_5'Flank|CLN3_uc002dpq.1_5'Flank|CLN3_uc010bye.1_5'Flank|CLN3_uc002dpr.1_5'Flank|CLN3_uc010byf.1_5'Flank|CLN3_uc002dps.1_5'Flank|CLN3_uc002dpu.1_5'Flank|CLN3_uc002dpw.1_5'Flank|CLN3_uc010vcw.1_5'Flank|CLN3_uc002dqa.2_5'Flank|CLN3_uc010vcx.1_5'Flank|CLN3_uc002dpx.1_5'Flank|CLN3_uc002dpy.1_5'Flank|CLN3_uc002dpz.1_5'Flank|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	3					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGATGGACTTCCTCCGGCTAT	0.592000														72			36		0	0	0.00148497	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269327	150269327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150269327C>T	uc003whl.3	+	2	251	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.H71Y	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	57							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAAGTGTTTCATTCTGGCAC	0.458000														38			17		0	0	0.00074312	0	0
NLRP10	338322	broad.mit.edu	37	11	7981841	7981841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7981841C>T	uc001mfv.1	-	1	1335	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	440	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGGGGCCATCTAAATTA	0.502000														116			21		0	0	0.000295444	0	0
EGR2	1959	broad.mit.edu	37	10	64573920	64573920	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:64573920C>T	uc010qio.2	-	2	537	c.517G>A	c.(517-519)Gac>Aac	p.D173N	EGR2_uc010qim.2_Missense_Mutation_p.D160N|EGR2_uc010qin.2_Missense_Mutation_p.D110N|EGR2_uc001jmi.3_Missense_Mutation_p.D160N|EGR2_uc009xph.3_Missense_Mutation_p.D160N	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	160					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.P172S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGTCCAGGTCAGGCTGGGTC	0.632000														38			27		0	0	0.000339439	0	0
abParts	0	broad.mit.edu	37	2	90008077	90008077	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:90008077G>A	uc010yts.2	+	14		c.2365G>A								Parts of antibodies, mostly variable regions.																		ATCTGGGACAGATTTCACTCT	0.502000														66			36		0	0	0.000781405	0	0
CR1	1378	broad.mit.edu	37	1	207793378	207793378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:207793378G>A	uc001hfy.3	+	34	6010	c.5870G>A	c.(5869-5871)aGa>aAa	p.R1957K	CR1_uc001hfx.3_Missense_Mutation_p.R2407K|CR1_uc021pij.1_Missense_Mutation_p.R1957K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1957	Sushi 30.				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						GCGGATGACAGATGGGACCCT	0.463000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			7		0	0	0.000157383	0	0
DNAH8	1769	broad.mit.edu	37	6	38825467	38825467	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:38825467C>T	uc021yzh.1	+	41	6016	c.5907C>T	c.(5905-5907)ttC>ttT	p.F1969F	DNAH8_uc003ooe.2_Silent_p.F1752F	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						GAGTGAAGTTCGAGACTCTAA	0.323000														39			15		0	0	0.000958276	0	0
C8orf80	389643	broad.mit.edu	37	8	27898672	27898672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:27898672C>T	uc003xgm.4	-	12	1650	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	503						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ATGGCCTTCTCCAGCAGCTCA	0.557000														12			4		0	0	0.000602214	0	0
STAG3	10734	broad.mit.edu	37	7	99780373	99780374	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:99780373_99780374CG>AT	uc003utx.1	+	3	402_403	c.247_248CG>AT	c.(247-249)cga>ATa	p.R83I	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.R83I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	83					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R83Q(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAGGGTCCCGAGTGGTACAT	0.406000														466			10		0	0	6.4e-05	0	0
UBA3	9039	broad.mit.edu	37	3	69111006	69111006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:69111006G>A	uc003dno.3	-	10	889	c.869C>T	c.(868-870)tCa>tTa	p.S290L	UBA3_uc003dnq.3_Missense_Mutation_p.S276L|UBA3_uc011bfy.2_Missense_Mutation_p.S113L|UBA3_uc011bfz.2_Missense_Mutation_p.S113L	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	290					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ATTATATTGTGATGCTCTCTC	0.383000														89			12		0	0	0.000422831	0	0
PRSS35	167681	broad.mit.edu	37	6	84233586	84233586	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:84233586C>T	uc003pjz.3	+	1	666	c.426C>T	c.(424-426)ttC>ttT	p.F142F	PRSS35_uc010kbm.3_Silent_p.F142F|PRSS35_uc021zce.1_Silent_p.F142F	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TAACCAATTTCCCTTTCAGCA	0.468000														29			31		0	0	0.000491102	0	0
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:138341226C>T	uc011kqh.2	-	5	501	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_uc003vue.3_Silent_p.T15T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	167						integral to membrane	transmembrane transporter activity	p.A167V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353000														93			31		0	0	0.000953801	0	0
FAT4	79633	broad.mit.edu	37	4	126371309	126371309	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126371309C>T	uc003ifj.4	+	8	9138	c.9138C>T	c.(9136-9138)tcC>tcT	p.S3046S	FAT4_uc011cgp.2_Silent_p.S1344S|FAT4_uc003ifi.1_Silent_p.S524S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3046	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGCATCCTCCCTGATTTCTG	0.383000														21			14		0	0	0.000308642	0	0
MTA2	9219	broad.mit.edu	37	11	62362538	62362538	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62362538G>A	uc001ntq.2	-	14	1878	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	MTA2_uc010rlx.1_Silent_p.S323S	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	496					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GAAGTCGAATGGAGCCTGGAG	0.498000														97			25		0	0	0.000586117	0	0
OR8D1	283159	broad.mit.edu	37	11	124180060	124180060	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:124180060G>A	uc010sag.2	-	0	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACCCCGCAATGATAAAAAGTA	0.488000														3			7		0	0	0.000274275	0	0
PRB1	5542	broad.mit.edu	37	12	11506847	11506847	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:11506847C>T	uc001qzw.1	-	2	227	c.190G>A	c.(190-192)Gga>Aga	p.G64R	PRB1_uc001qzu.1_Missense_Mutation_p.G64R|PRB1_uc001qzv.1_Missense_Mutation_p.G64R	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	64	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.607000														241			6		0	0	0.000219431	0	0
FLG	2312	broad.mit.edu	37	1	152275817	152275817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:152275817C>T	uc001ezu.1	-	2	11581	c.11545G>A	c.(11545-11547)Gaa>Aaa	p.E3849K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCACCCTGGCCG	0.597000									Ichthyosis					180			60		0	0	0.000781405	0	0
OR52H1	390067	broad.mit.edu	37	11	5566642	5566642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5566642G>A	uc010qzh.2	-	0	112	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACAGAAGGGAATTCCAATC	0.458000														65			11		0	0	0.000673444	0	0
PCNT	5116	broad.mit.edu	37	21	47775381	47775381	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:47775381C>T	uc002zji.4	+	11	1883	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	PCNT_uc002zjj.3_Silent_p.R474R	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	592	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCTGCCACGCTTCCAGGCGG	0.572000														27			38		0	0	0.00195071	0	0
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:89058940C>T	uc003yeb.4	-	8	1728	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378000														47			32		0	0	0.00058488	0	0
GRM3	2913	broad.mit.edu	37	7	86416388	86416388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:86416388G>A	uc003uid.3	+	2	2379	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E	GRM3_uc010lef.3_Missense_Mutation_p.G425E|GRM3_uc010leg.3_Missense_Mutation_p.G299E|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	427					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCCTGGATGGGAAGAAGTTG	0.453000														128			60		0	0	0.000781405	0	0
ZNF816	125893	broad.mit.edu	37	19	53454394	53454394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53454394G>A	uc002qal.2	-	4	985	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.L212F|ZNF816_uc002qam.2_Missense_Mutation_p.L212F	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGAATGGAGGAAATTCTTC	0.373000														58			17		0	0	0.000422831	0	0
ZNF831	128611	broad.mit.edu	37	20	57767265	57767265	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:57767265G>A	uc002yan.3	+	0	1191	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	397						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGCCGGCCTGGAGCTGGAGA	0.736000														8			4		0	0	0.00024832	0	0
SLC6A6	6533	broad.mit.edu	37	3	14523300	14523300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:14523300C>T	uc010heg.3	+	13	1972	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	SLC6A6_uc003byq.3_Missense_Mutation_p.P558L|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	558					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.P558S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCTGCGTTCCCTTGGTCATC	0.617000														57			9		0	0	0.000274275	0	0
RABGAP1	23637	broad.mit.edu	37	9	125746845	125746845	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:125746845G>A	uc011lzh.2	+	2	366	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.G78R	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	78					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CGACCAGCCAGGGGAAAAGGA	0.478000														53			16		0	0	0.000566183	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973221	116973222	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:116973221_116973222GG>AA	uc003pxf.2	-	5	1355_1356	c.1095_1096CC>TT	c.(1093-1098)ttccaa>ttTTaa	p.Q366*	ZUFSP_uc010kef.2_Nonsense_Mutation_p.Q170*	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	366						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGTAGCATTTGGAAATTTCTGT	0.381000														78			23		0	0	6.4e-05	0	0
LAMB2	3913	broad.mit.edu	37	3	49166499	49166499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:49166499G>A	uc003cwe.3	-	12	1984	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	LAMB2_uc003cwf.1_Missense_Mutation_p.P562L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	562	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCAGGAAGGGCCGGAAGTA	0.622000														55			13		0	0	0.000422831	0	0
SCN9A	6335	broad.mit.edu	37	2	167168253	167168253	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:167168253G>A	uc010fpl.3	-	1	355	c.14C>T	c.(13-15)cCt>cTt	p.P5L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	5						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCCTGGGGGAGGCAACATTGC	0.403000														45			21		0	0	0.00121646	0	0
MYOCD	93649	broad.mit.edu	37	17	12639544	12639544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:12639544G>A	uc002gno.2	+	5	781	c.482G>A	c.(481-483)gGg>gAg	p.G161E	MYOCD_uc002gnn.2_Missense_Mutation_p.G161E|MYOCD_uc002gnp.1_Missense_Mutation_p.G65E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	161	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGCGATGGGCTTTCTCCG	0.552000														165			37		0	0	0.000692331	0	0
PTPRD	5789	broad.mit.edu	37	9	8465523	8465523	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:8465523G>A	uc003zkk.3	-	31	4400	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	PTPRD_uc003zkp.3_Silent_p.L808L|PTPRD_uc003zkq.3_Silent_p.L808L|PTPRD_uc003zkr.3_Silent_p.L803L|PTPRD_uc003zks.3_Silent_p.L798L|PTPRD_uc022bdj.1_Silent_p.L805L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1219					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCACTTTGGAGTTGCTTGT	0.403000										TSP Lung(15;0.13)				8			8		0	0	0.000442599	0	0
IGSF10	285313	broad.mit.edu	37	3	151165848	151165848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:151165848C>T	uc011bod.2	-	3	1921	c.1921G>A	c.(1921-1923)Ggt>Agt	p.G641S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	641	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGATAATAACCTTGGTCTTTC	0.423000														62			10		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	14	107199181	107199181	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:107199181G>A	uc021ser.1	-	16		c.1508C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCTCCAG	0.607000														68			47		0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803733	185803733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:185803733C>T	uc002uph.3	+	3	4204	c.3610C>T	c.(3610-3612)Cct>Tct	p.P1204S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1204						intracellular	zinc ion binding	p.P1204L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACTGTCATCCCTTTGCAACC	0.433000														120			60		0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158647515	158647515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:158647515C>T	uc001fst.1	-	6	1121	c.922G>A	c.(922-924)Gga>Aga	p.G308R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	308					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTCAAGTCCCTTGTGACTG	0.463000														6			3		0	0	0.00024832	0	0
OR6A2	8590	broad.mit.edu	37	11	6816561	6816561	+	Missense_Mutation	SNP	G	A	A	rs151066337		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6816561G>A	uc001mes.1	-	0	579	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127C(6)|p.R127H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATATAGCGATCATAGGCC	0.527000														7			5		0	0	0.000602214	0	0
KCND1	3750	broad.mit.edu	37	X	48826418	48826418	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:48826418G>A	uc004dlx.1	-	0	1834	c.261C>T	c.(259-261)gaC>gaT	p.D87D	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	87						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	p.R86R(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACATGTCAGGGTCGCGATCGA	0.577000														3			8		0	0	0.000442599	0	0
WDR12	55759	broad.mit.edu	37	2	203748421	203748422	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:203748421_203748422CC>AA	uc002uzl.3	-	10	1781_1782	c.1031_1032GG>TT	c.(1030-1032)tgg>tTT	p.W344F		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	344	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CTGATGTCACCCAACCAGTATG	0.401000														557			11		0	0	6.4e-05	0	0
SYT12	91683	broad.mit.edu	37	11	66807362	66807362	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:66807362C>T	uc009yrl.3	+	3	539	c.309C>T	c.(307-309)acC>acT	p.T103T	SYT12_uc001oju.3_Silent_p.T103T	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	103						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGAGGACACCTTTGAGAGCA	0.647000														87			20		0	0	0.00188189	0	0
IQCF3	401067	broad.mit.edu	37	3	51864682	51864682	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:51864682C>T	uc021wyy.1	+	6	1118	c.330C>T	c.(328-330)cgC>cgT	p.R110R	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.R110R	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	110	IQ.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGTTACCGCCAAATGTGCA	0.567000														68			8		0	0	0.000673444	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39103614C>T	uc003xmt.4	+	16	2076	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_uc011lch.2_Missense_Mutation_p.R512C|ADAM32_uc003xmu.4_Missense_Mutation_p.R505C|ADAM32_uc003xmv.3_Missense_Mutation_p.R35C	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000														40			13		0	0	0.000308642	0	0
OR4C13	283092	broad.mit.edu	37	11	49974506	49974506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:49974506G>A	uc010rhz.2	+	0	564	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTTATGTGTGATCTCTACAC	0.423000														58			25		0	0	0.00127121	0	0
MBD5	55777	broad.mit.edu	37	2	149227571	149227571	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:149227571T>C	uc002twm.4	+	8	3056	c.2059T>C	c.(2059-2061)Ttg>Ctg	p.L687L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Silent_p.L128L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	687						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGACCTGACTTGCTAAGGAA	0.443000														16			4		0	0	0.00024832	0	0
GCOM1	145781	broad.mit.edu	37	15	57929917	57929917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:57929917C>T	uc002aei.3	+	8	1089	c.958C>T	c.(958-960)Ctc>Ttc	p.L320F	GCOM1_uc002aej.3_Missense_Mutation_p.L320F|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.L320F|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.L320F	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	320					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCAACTTCAACTCCTAGAACA	0.373000														17			4		0	0	0.00116845	0	0
C10orf99	387695	broad.mit.edu	37	10	85936235	85936235	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:85936235G>A	uc001kcu.3	+	2	125	c.71_splice	c.e2-1	p.G24_splice		NM_207373	NP_997256	Q6UWK7	CJ099_HUMAN	Homo sapiens chromosome 10 open reading frame 99 (C10orf99), mRNA.	24						extracellular region				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TCCACCCTCAGGGAAGAGGCG	0.552000														27			18		0	0	0.000566183	0	0
SNRPN	6638	broad.mit.edu	37	15	25438365	25438365	+	RNA	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:25438365G>A	uc001yzf.1	+	2		c.243G>A			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGTGCACTGAAGATTGGGC	0.602000									Prader-Willi syndrome					40			17		0	0	0.000566183	0	0
OR13C3	138803	broad.mit.edu	37	9	107298641	107298641	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:107298641G>A	uc004bcb.1	-	0	454	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCCACATAACGATCAAATGCC	0.473000														84			36		0	0	0.00128727	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069432	6069432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:6069432G>A	uc010ndi.3	-	1	540	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	NLGN4X_uc004crp.3_Missense_Mutation_p.L26F|NLGN4X_uc010ndh.3_Missense_Mutation_p.L26F|NLGN4X_uc004crq.3_Missense_Mutation_p.L26F|NLGN4X_uc004crr.3_Missense_Mutation_p.L26F|NLGN4X_uc010ndj.3_Missense_Mutation_p.L26F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	26					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AACCACAGGAGGACATTGGAG	0.498000														13			23		0	0	0.000878237	0	0
PKIB	5570	broad.mit.edu	37	6	123039007	123039008	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:123039007_123039008GG>AA	uc003pzc.3	+	3	248_249	c.89_90GG>AA	c.(88-90)agg>aAA	p.R30K	PKIB_uc003pyz.3_Missense_Mutation_p.R23K|PKIB_uc003pza.3_Missense_Mutation_p.R23K|PKIB_uc003pzb.3_Missense_Mutation_p.R23K|PKIB_uc011ebq.2_Missense_Mutation_p.R23K	NM_181795	NP_861460	Q9C010	IPKB_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor beta (PKIB), transcript variant 1, mRNA.	23							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TCTTCAGCAAGGGCAGGCCGCC	0.500000														48			10		0	0	6.4e-05	0	0
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:1460850C>T	uc002lsr.1	+	11	1723	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	APC2_uc002lss.1_Silent_p.L87L|APC2_uc002lst.1_Silent_p.L505L|APC2_uc002lsu.1_Silent_p.L504L	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	505					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGGAGCTCCACCAGGTAC	0.697000														19			10		0	0	0.000442599	0	0
RNF152	220441	broad.mit.edu	37	18	59483351	59483351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:59483351C>T	uc002lih.1	-	1	758	c.346G>A	c.(346-348)Gac>Aac	p.D116N	RNF152_uc021ula.1_Missense_Mutation_p.D116N	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	116					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CAGCCCATGTCTCCGGGCAGC	0.637000														33			10		0	0	0.000978159	0	0
NLRP11	204801	broad.mit.edu	37	19	56307471	56307471	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:56307471G>A	uc010ygf.2	-	7	3028	c.2317C>T	c.(2317-2319)Ccc>Tcc	p.P773S	NLRP11_uc002qlz.3_Missense_Mutation_p.P620S|NLRP11_uc002qmb.3_Missense_Mutation_p.P674S|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	773							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTGCAGTTGGGATGAAGCAAG	0.483000														218			114		0	0	0.000781405	0	0
RASAL2	9462	broad.mit.edu	37	1	178427145	178427145	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:178427145C>T	uc001glq.3	+	13	3482	c.2718C>T	c.(2716-2718)ccC>ccT	p.P906P	RASAL2_uc001glr.3_Silent_p.P765P|RASAL2_uc009wxc.3_Silent_p.P279P	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	765					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGAAGGCCCCTGCACCCAG	0.572000														50			32		0	0	0.00178596	0	0
EML3	256364	broad.mit.edu	37	11	62376896	62376896	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:62376896G>A	uc010rly.1	-	5	996	c.688C>T	c.(688-690)Ccg>Tcg	p.P230S	EML3_uc001ntr.1_Missense_Mutation_p.P202S|EML3_uc001nts.1_Missense_Mutation_p.P202S|EML3_uc001ntt.1_Missense_Mutation_p.P114S|EML3_uc001ntu.1_Missense_Mutation_p.P230S|EML3_uc009yny.1_Missense_Mutation_p.P13S			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	230						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATGCCAGACGGGATGTACATG	0.577000														75			42		0	0	0.000781405	0	0
CD14	929	broad.mit.edu	37	5	140011896	140011896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140011896G>A	uc003lgi.2	-	1	1052	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	CD14_uc003lgj.2_Nonsense_Mutation_p.Q225*|CD14_uc021yej.1_Nonsense_Mutation_p.Q225*|CD14_uc021yek.1_Nonsense_Mutation_p.Q225*|CD14_uc021yel.1_Nonsense_Mutation_p.Q94*	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	225					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGATTCTGGATGGCCGGG	0.652000														65			18		0	0	0.00121646	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959213	143959213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:143959213G>A	uc010mey.3	-	3	575	c.568C>T	c.(568-570)Cct>Tct	p.P190S	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ATGCCCCCAGGGAATGGTGGG	0.517000									Familial Hyperaldosteronism type I					40			19		0	0	0.00152264	0	0
PLCL2	23228	broad.mit.edu	37	3	17051494	17051494	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:17051494C>T	uc011awc.2	+	2	728	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PLCL2_uc010het.1_Missense_Mutation_p.S93F|PLCL2_uc011awd.2_Missense_Mutation_p.S93F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	219	PH.		Q -> R (in dbSNP:rs17853614).		intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H210Y(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTGCGTTTTCCGTCATATAT	0.408000														64			8		0	0	0.000274275	0	0
OR10A6	390093	broad.mit.edu	37	11	7950073	7950073	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:7950073A>G	uc010rbh.2	-	0	137	c.137T>C	c.(136-138)aTa>aCa	p.I46T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACGATGACTATAATAATGGC	0.468000														28			7		0	0	8.12818e-05	0	0
PRKCH	5583	broad.mit.edu	37	14	61924337	61924337	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:61924337C>T	uc001xfn.3	+	8	1523	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PRKCH_uc010tsa.2_Silent_p.I245I	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	406	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGAAAAGGATCCTGTCTCTGG	0.488000														99			72		0	0	0.000781405	0	0
OR51E1	143503	broad.mit.edu	37	11	4674078	4674078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:4674078C>T	uc021qcq.1	+	0	322	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	OR51E1_uc001lzi.4_Missense_Mutation_p.H108Y	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTGCCATCCACTCCTTATC	0.512000														39			9		0	0	0.000274275	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580861	140580861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140580861C>T	uc003liy.3	+	0	1514	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	505	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTGGTCTCCATCAACACA	0.652000														185			34		0	0	0.000953801	0	0
ABCC3	8714	broad.mit.edu	37	17	48733268	48733268	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48733268C>T	uc002isl.3	+	1	201	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	ABCC3_uc002isk.4_Missense_Mutation_p.P41S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	41					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGCCTGGGTGCCCTGCATCTA	0.577000														26			27		0	0	0.00127121	0	0
RBP3	5949	broad.mit.edu	37	10	48389018	48389018	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:48389018C>T	uc001jez.3	-	0	1974	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	620	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)	CCAGGGCCTCCTCGGCCAGCA	0.672000														11			23		0	0	0.000878237	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														41			17		0	0	0.000566183	0	0
GHRHR	2692	broad.mit.edu	37	7	31016059	31016059	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:31016059G>A	uc003tbx.3	+	10	1038	c.990G>A	c.(988-990)tcG>tcA	p.S330S	GHRHR_uc003tby.3_Silent_p.S266S|GHRHR_uc003tbz.3_Missense_Mutation_p.D97N	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	330					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.S330P(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCTCCAAGTCGACACTTTTCC	0.527000														38			17		0	0	0.000958276	0	0
CLK2P	1197	broad.mit.edu	37	7	23624933	23624933	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:23624933C>T	uc003swk.2	-	0	1214	c.564G>A	c.(562-564)cgG>cgA	p.R188R						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CCAGGCGACCCCGGTAAAAAT	0.512000														99			42		0	0	0.000680045	0	0
C2CD2	25966	broad.mit.edu	37	21	43327113	43327113	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:43327113G>A	uc002yzw.3	-	9	1548	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	C2CD2_uc002yzt.3_Missense_Mutation_p.P52S|C2CD2_uc002yzu.3_Missense_Mutation_p.P268S|C2CD2_uc002yzv.3_Missense_Mutation_p.P281S|C2CD2_uc002yzx.1_Missense_Mutation_p.P281S	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	436						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGCTCAGCGGGGACGCCCTC	0.582000														41			13		0	0	0.00185496	0	0
FAM110C	642273	broad.mit.edu	37	2	45663	45663	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:45663C>T	uc010yim.2	-	0	926	c.723G>A	c.(721-723)tcG>tcA	p.S241S		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	241						microtubule|microtubule organizing center|spindle pole		p.G240E(1)		central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCACACAGTCCGACCCCGCGG	0.692000														11			9		0	0	0.000978159	0	0
FAM83B	222584	broad.mit.edu	37	6	54791183	54791183	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54791183G>A	uc003pck.3	+	2	575	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	153										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTTAGTGATGGATATAT	0.313000														19			5		0	0	0.00116845	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673992	20673992	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:20673992G>A	uc001mqd.3	+	14	2501	c.2228G>A	c.(2227-2229)aGa>aAa	p.R743K	SLC6A5_uc009yic.3_Missense_Mutation_p.R508K	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	743					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCCCTGGAAGATTTATTGAG	0.433000														138			23		0	0	0.00106085	0	0
CSMD3	114788	broad.mit.edu	37	8	113318380	113318380	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:113318380T>A	uc003ynu.3	-	50	8086	c.7927A>T	c.(7927-7929)Ata>Tta	p.I2643L	CSMD3_uc003yns.3_Missense_Mutation_p.I1845L|CSMD3_uc003ynt.3_Missense_Mutation_p.I2603L|CSMD3_uc011lhx.2_Missense_Mutation_p.I2539L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2643	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTGTTAGTATTCCTCCATTT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				19			10		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257140	140257140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140257140G>A	uc003lic.2	+	0	2210	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D695N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	703					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTGGTGGATATTAACGT	0.652000														42			9		0	0	0.000673444	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														24			6		8.12818e-05	0.000482214	8.12818e-05	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449869	105449870	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:105449869_105449870GG>AA	uc022cca.1	+	0	444_445	c.444_445GG>AA	c.(442-447)agggaa>agAAaa	p.E149K	MUM1L1_uc004emg.2_Missense_Mutation_p.E149K|MUM1L1_uc004emf.2_Missense_Mutation_p.E149K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	149										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGAGGAAAGGGAAAACTCAGC	0.426000														7			7		0	0	6.4e-05	0	0
CWF19L2	143884	broad.mit.edu	37	11	107197668	107197668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:107197668G>A	uc010rvp.2	-	17	2683	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	885							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGTCATATGGTTTCCACCAC	0.388000														26			8		0	0	0.000157383	0	0
KLHL6	89857	broad.mit.edu	37	3	183209862	183209862	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:183209862G>A	uc003flr.3	-	6	1777	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	573								p.I573L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCACCGTGGCGATAACCTCGT	0.667000														113			23		0	0	0.000878237	0	0
MLL2	8085	broad.mit.edu	37	12	49435116	49435116	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49435116G>A	uc001rta.4	-	30	6437	c.6437C>T	c.(6436-6438)cCg>cTg	p.P2146L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2146	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CGAGCCCGCCGGCGGCTTCAG	0.697000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				4			7		0	0	0.000157383	0	0
ABP1	26	broad.mit.edu	37	7	150558186	150558186	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150558186C>T	uc003why.1	+	5	6363	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	ABP1_uc003whz.1_Silent_p.I715I|ABP1_uc003wia.1_Silent_p.I734I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	715					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	ACACTGTGATCGTGTGGCCTC	0.597000														39			19		0	0	0.00074312	0	0
ANO3	63982	broad.mit.edu	37	11	26656579	26656580	+	Missense_Mutation	DNP	AA	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:26656579_26656580AA>TT	uc001mqt.4	+	19	2150_2151	c.2005_2006AA>TT	c.(2005-2007)aaa>TTa	p.K669L	ANO3_uc010rdr.2_Missense_Mutation_p.K653L|ANO3_uc010rds.2_Missense_Mutation_p.K508L|ANO3_uc010rdt.2_Missense_Mutation_p.K523L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	669						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CCACCCAGGAAAATACAATAAA	0.450000														35			6		0	0	6.4e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247587957	247587957	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:247587957C>T	uc001icr.3	+	4	1350	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	NLRP3_uc001ics.3_Silent_p.V404V|NLRP3_uc001icu.3_Silent_p.V404V|NLRP3_uc001icw.3_Silent_p.V404V|NLRP3_uc001icv.3_Silent_p.V404V|NLRP3_uc010pyw.2_Silent_p.V402V|NLRP3_uc001ict.1_Silent_p.V402V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	404	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAACGAGGTCCTCTTCACCA	0.532000														31			5		0	0	0.00116845	0	0
OR56A4	120793	broad.mit.edu	37	11	6023540	6023540	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6023540A>C	uc010qzv.2	-	0	839	c.839T>G	c.(838-840)gTg>gGg	p.V280G		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCTAAGCACAACTTTCAA	0.478000														12			12		0	0	0.00185496	0	0
MYH1	4619	broad.mit.edu	37	17	10417207	10417207	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10417207G>A	uc002gmo.3	-	7	766	c.672C>T	c.(670-672)atC>atT	p.I224I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	224	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTTGGCACTGATGATTTGAT	0.532000														25			16		0	0	0.00074312	0	0
TIMP3	7078	broad.mit.edu	37	22	33254006	33254006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:33254006C>T	uc003anb.3	+	3	1505	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	107	Mediates interaction with EFEMP1.|NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	p.R107C(2)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TCCTGTAGGTCGCGTCTATGA	0.532000														31			19		0	0	0.00152264	0	0
CDH8	1006	broad.mit.edu	37	16	61935284	61935284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:61935284C>T	uc002eog.2	-	2	1301	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	116	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGATATCTCCAGTTACATCA	0.443000														72			21		0	0	0.00121646	0	0
PRKACG	5568	broad.mit.edu	37	9	71628866	71628866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:71628866C>T	uc004agy.3	-	0	174	c.143G>A	c.(142-144)aGg>aAg	p.R48K		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	48	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCAGCGTCCTGAGCCGTTC	0.597000														49			15		0	0	0.000308642	0	0
SAMM50	25813	broad.mit.edu	37	22	44371952	44371952	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:44371952C>T	uc003bej.3	+	7	863	c.666C>T	c.(664-666)acC>acT	p.T222T	SAMM50_uc011aqd.2_Silent_p.T12T|SAMM50_uc003bek.3_Silent_p.T27T	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	222					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TATGGAAGACCAGCCACACTG	0.463000														28			12		0	0	0.000978159	0	0
CABIN1	23523	broad.mit.edu	37	22	24494078	24494078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:24494078C>T	uc002zzi.1	+	25	4167	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F	CABIN1_uc021wnc.1_Missense_Mutation_p.S1297F|CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.2_Missense_Mutation_p.S1347F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1347					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGTCTGACATCCCCACCTTAC	0.612000														93			20		0	0	0.00047179	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:47535945C>T	uc002pfw.3	+	4	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			20		0	0	0.000375601	0	0
SV2B	9899	broad.mit.edu	37	15	91835650	91835651	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:91835650_91835651GG>TT	uc002bqv.3	+	13	2811_2812	c.1920_1921GG>TT	c.(1918-1923)ctggga>ctTTga	p.G641*	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Nonsense_Mutation_p.G490*	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	641					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCGCCATCCTGGGAAACACCAT	0.465000														579			12		0	0	6.4e-05	0	0
SEC22A	26984	broad.mit.edu	37	3	122942477	122942477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:122942477C>T	uc003ege.3	+	2	333	c.254C>T	c.(253-255)tCt>tTt	p.S85F	SEC22A_uc003egf.3_Missense_Mutation_p.S85F	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	85	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTCGCCTTCTCTTTCCTGGAT	0.373000														134			23		0	0	0.000878237	0	0
LCE1A	353131	broad.mit.edu	37	1	152799975	152799975	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:152799975G>A	uc010pdw.2	+	0	27	c.27G>A	c.(25-27)caG>caA	p.Q9Q		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	9	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCAGCAGCAGTGCCAGCCCC	0.612000														58			13		0	0	0.000219431	0	0
TMED8	283578	broad.mit.edu	37	14	77812698	77812698	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:77812698G>A	uc001xto.1	-	2	321	c.321C>T	c.(319-321)ctC>ctT	p.L107L	TMED8_uc001xtn.1_5'Flank	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	107					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTACCTCATTGAGGACCTGGG	0.532000														26			16		0	0	0.000566183	0	0
MAP3K3	4215	broad.mit.edu	37	17	61723433	61723433	+	Splice_Site	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:61723433C>G	uc002jbg.3	+	3	486	c.167_splice	c.e3+1	p.R56_splice	MAP3K3_uc002jbe.3_Splice_Site_p.R87_splice|MAP3K3_uc002jbf.3_Splice_Site_p.R87_splice|MAP3K3_uc002jbh.3_Splice_Site_p.R87_splice|MAP3K3_uc010wpo.2_Splice_Site|MAP3K3_uc010wpp.2_Splice_Site_p.R56_splice	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	56	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGGAGAGGCGGTAAGTCTG	0.473000														32			7		0	0	8.12818e-05	0	0
FREM2	341640	broad.mit.edu	37	13	39438468	39438468	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:39438468C>G	uc001uwv.3	+	15	8017	c.7708C>G	c.(7708-7710)Cct>Gct	p.P2570A	FREM2_uc001uww.3_Missense_Mutation_p.P656A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2570					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCCTCAGCCCTGATGGCAC	0.443000														38			16		0	0	0.000566183	0	0
MARCH7	64844	broad.mit.edu	37	2	160604811	160604811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:160604811C>T	uc002uax.3	+	4	1132	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	MARCH7_uc010foq.3_Missense_Mutation_p.P337L|MARCH7_uc010zcn.2_Missense_Mutation_p.P281L|MARCH7_uc010for.3_Missense_Mutation_p.P299L|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	337	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCTGAAGTTCCCGATAATAGG	0.408000														40			22		0	0	0.000295444	0	0
ARAP1	116985	broad.mit.edu	37	11	72409131	72409131	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:72409131G>A	uc001osu.3	-	18	2751	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	ARAP1_uc001osv.3_Silent_p.A854A|ARAP1_uc001osr.3_Silent_p.A614A|ARAP1_uc001oss.3_Silent_p.A609A|ARAP1_uc009yth.3_Silent_p.A548A|ARAP1_uc010rre.2_Silent_p.A609A	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	854					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAGATCCTCGGCTAGGGGAG	0.657000														109			78		0	0	0.000781405	0	0
F11	2160	broad.mit.edu	37	4	187205274	187205274	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:187205274C>T	uc003iza.1	+	10	1497	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	388	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGCCCAGGATCGTTGGAGGAA	0.517000														70			36		0	0	0.00170553	0	0
C12orf12	196477	broad.mit.edu	37	12	91347577	91347577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:91347577C>T	uc001tbj.3	-	0	1377	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	315	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						tcctcatcttcgacctcttcc	0.532000														45			5		0	0	0.000602214	0	0
BACH2	60468	broad.mit.edu	37	6	90660964	90660964	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:90660964C>G	uc011eab.2	-	6	1735	c.861G>C	c.(859-861)gaG>gaC	p.E287D	BACH2_uc003pnw.3_Missense_Mutation_p.E287D|BACH2_uc010kch.3_Missense_Mutation_p.E287D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	287						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGTGATGCTCTCTTCCTCAT	0.592000														30			16		0	0	0.000958276	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386245	65386245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65386245C>T	uc001oey.2	+	5	1412	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	471						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGAGGGCCCCCCATGGGGCT	0.662000														11			8		0	0	0.000442599	0	0
OBSCN	84033	broad.mit.edu	37	1	228432088	228432088	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:228432088C>T	uc009xez.1	+	10	3341	c.3297C>T	c.(3295-3297)gcC>gcT	p.A1099A	OBSCN_uc001hsn.3_Silent_p.A1099A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1099	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGGTGGCCCAGGCCCAGA	0.597000														51			17		0	0	0.00074312	0	0
HNF4A	3172	broad.mit.edu	37	20	43052831	43052831	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:43052831C>T	uc002xma.3	+	7	1155	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	HNF4A_uc002xlt.3_Nonsense_Mutation_p.Q334*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.Q334*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.Q334*|HNF4A_uc002xly.3_Nonsense_Mutation_p.Q356*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.Q349*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.Q356*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	356					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGAGCAGATCCAGTTCATCAA	0.602000														179			40		0	0	0.000781405	0	0
EPHA2	1969	broad.mit.edu	37	1	16475117	16475117	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:16475117G>A	uc001aya.2	-	2	734	c.579C>T	c.(577-579)tcC>tcT	p.S193S	EPHA2_uc010oca.2_Silent_p.S193S	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	193	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGACACGGACGGAGAGCAGCG	0.642000														33			11		0	0	0.000978159	0	0
FBXO47	494188	broad.mit.edu	37	17	37119098	37119098	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:37119098C>T	uc002hrc.2	-	2	381	c.181_splice	c.e2+1	p.V61_splice		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	61	F-box.									NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CAAACCTCACCTGACAAATAT	0.348000														17			12		0	0	0.00136819	0	0
MPND	84954	broad.mit.edu	37	19	4354996	4354996	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4354996C>T	uc002mae.3	+	6	964	c.897C>T	c.(895-897)ggC>ggT	p.G299G	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Intron	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	299	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGGGGGCCGCTGGGACG	0.672000														20			9		0	0	0.000673444	0	0
ZFHX3	463	broad.mit.edu	37	16	72822544	72822544	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:72822544G>T	uc002fck.3	-	9	10304	c.9631C>A	c.(9631-9633)Ccc>Acc	p.P3211T	ZFHX3_uc002fcl.3_Missense_Mutation_p.P2297T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3211	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGGCGGGGGAGgctgctgc	0.642000														134			61		2.22609e-26	1.34186e-25	0.000781405	1	0
WNK2	65268	broad.mit.edu	37	9	96054861	96054861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:96054861C>T	uc004ati.1	+	22	5225	c.5225C>T	c.(5224-5226)cCg>cTg	p.P1742L	WNK2_uc011lud.1_Missense_Mutation_p.P1705L|WNK2_uc004atj.3_Missense_Mutation_p.P1705L|WNK2_uc004atk.3_Missense_Mutation_p.P1342L|WNK2_uc004atl.1_Missense_Mutation_p.P299L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1742					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAGCCCCCGCCGAGTGACATG	0.622000														7			7		0	0	0.000157383	0	0
NLRP2	55655	broad.mit.edu	37	19	55481484	55481484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55481484C>T	uc021vbq.1	+	1	212	c.101C>T	c.(100-102)tCc>tTc	p.S34F	NLRP2_uc010yfp.2_Missense_Mutation_p.S34F|NLRP2_uc002qij.3_Missense_Mutation_p.S34F|NLRP2_uc010esp.3_Missense_Mutation_p.S34F|NLRP2_uc010esn.3_Missense_Mutation_p.S34F|NLRP2_uc010eso.3_Missense_Mutation_p.S34F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	34	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGACCTTCTCCCTGGCACAC	0.547000														71			32		0	0	0.000409698	0	0
CCDC40	55036	broad.mit.edu	37	17	78032373	78032373	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:78032373G>A	uc010dht.3	+	7	1271	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	CCDC40_uc010wub.2_Missense_Mutation_p.D414N|CCDC40_uc021uem.1_Missense_Mutation_p.D414N|CCDC40_uc002jxm.4_Missense_Mutation_p.D197N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	414					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGCGTGACGACATCCGCGT	0.562000														40			9		0	0	0.000442599	0	0
SKIV2L	6499	broad.mit.edu	37	6	31937072	31937073	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31937072_31937073CG>AT	uc003nyn.1	+	26	3804_3805	c.3415_3416CG>AT	c.(3415-3417)cgg>ATg	p.R1139M	SKIV2L_uc011dou.1_Missense_Mutation_p.R981M|SKIV2L_uc011dov.1_Missense_Mutation_p.R946M|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1139						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGAACGTGTCCGGGCTGTGGCC	0.559000														644			11		0	0	6.4e-05	0	0
CLCN2	1181	broad.mit.edu	37	3	184073266	184073266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:184073266G>A	uc003foi.3	-	11	1346	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Missense_Mutation_p.R408C|CLCN2_uc011brl.2_Missense_Mutation_p.R408C|CLCN2_uc011brm.2_Missense_Mutation_p.R364C|CLCN2_uc011brn.1_Missense_Mutation_p.R408C	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	408						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582000														60			9		0	0	0.000673444	0	0
CRHR1	1394	broad.mit.edu	37	17	43906643	43906643	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:43906643C>T	uc010dap.3	+	4	655	c.390C>T	c.(388-390)tcC>tcT	p.S130S	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Silent_p.S29S|CRHR1_uc002ijm.3_Silent_p.S130S|CRHR1_uc002ijn.3_Silent_p.S90S|CRHR1_uc010dar.3_Silent_p.S130S|CRHR1_uc010dao.3_Silent_p.S29S|CRHR1_uc010daq.3_5'UTR|CRHR1_uc021tyu.1_5'Flank|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	130					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.I129I(1)|p.S130F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGTATCTCCCTGGTGGCCC	0.582000														25			8		0	0	0.000978159	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972603	203972604	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:203972603_203972604GG>TT	uc002uzt.3	+	12	1887_1888	c.1554_1555GG>TT	c.(1552-1557)ttgggg>ttTTgg	p.518_519LG>FW		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	518							binding	p.R519S(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGGTTCCTTGGGGAGTCAGTC	0.460000														766			11		0	0	6.4e-05	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:150889963C>T	uc004fex.3	+	2	415	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000														9			21		0	0	0.000375601	0	0
FBXL19	54620	broad.mit.edu	37	16	30958426	30958426	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:30958426C>T	uc002eab.2	+	10	2118	c.1960C>T	c.(1960-1962)Cta>Tta	p.L654L	FBXL19_uc002dzz.1_Silent_p.L342L|FBXL19_uc002eaa.1_Silent_p.L553L|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	654							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTGCCCTCGTCTACGCCGCCT	0.706000														5			6		0	0	8.12818e-05	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184702	39184702	+	Silent	SNP	G	A	A	rs34628941	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:39184702G>A	uc003cjg.3	-	4	1828	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	CSRNP1_uc003cjh.3_Silent_p.P538P	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	538					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCCAGGCAGGGGGAAGTGAG	0.577000														47			26		0	0	0.000720815	0	0
THSD7A	221981	broad.mit.edu	37	7	11676525	11676525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:11676525C>T	uc021zzo.1	-	1	506	c.254G>A	c.(253-255)tGg>tAg	p.W85*	THSD7A_uc021zzn.1_Nonsense_Mutation_p.W85*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	85	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGAGCACACCACACAGCCCT	0.478000										HNSCC(18;0.044)				105			34		0	0	0.000437636	0	0
TPTE2	93492	broad.mit.edu	37	13	20039428	20039428	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:20039428C>T	uc001umd.3	-	9	854	c.643G>A	c.(643-645)Gat>Aat	p.D215N	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.D104N|TPTE2_uc001ume.3_Missense_Mutation_p.D138N|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	215	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P215T(1)|p.V214F(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCAAATCCATCCCTTGTGTAT	0.303000														154			34		0	0	0.00170553	0	0
NELL2	4753	broad.mit.edu	37	12	45169851	45169851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:45169851C>T	uc010skz.1	-	8	1120	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	NELL2_uc001rof.3_Missense_Mutation_p.R281Q|NELL2_uc001rog.2_Missense_Mutation_p.R282Q|NELL2_uc001roh.2_Missense_Mutation_p.R282Q|NELL2_uc009zkd.2_Missense_Mutation_p.R281Q|NELL2_uc010sla.1_Missense_Mutation_p.R305Q|NELL2_uc001roi.1_Missense_Mutation_p.R282Q|NELL2_uc010slb.1_Missense_Mutation_p.R281Q|NELL2_uc001roj.2_Missense_Mutation_p.R282Q	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	282	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTCAAATTCTCGGTAGGTGGT	0.468000														41			7		0	0	0.000157383	0	0
METTL2B	55798	broad.mit.edu	37	7	128119274	128119274	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:128119274T>C	uc003vnf.3	+	2	302	c.265T>C	c.(265-267)Ttt>Ctt	p.F89L	METTL2B_uc003vng.3_Missense_Mutation_p.F24L|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	89							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAAAATGGGTTTTTCAAGGA	0.358000														46			29		0	0	0.001512	0	0
HYDIN	54768	broad.mit.edu	37	16	70954854	70954854	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:70954854G>A	uc002ezr.3	-	45	7573	c.7422C>T	c.(7420-7422)gaC>gaT	p.D2474D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2475										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTGCTTCCGGTCCCAGTACA	0.602000														15			7		0	0	0.000673444	0	0
SPEF2	79925	broad.mit.edu	37	5	35700632	35700632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:35700632G>A	uc003jjo.3	+	15	2287	c.2176G>A	c.(2176-2178)Ggt>Agt	p.G726S	SPEF2_uc003jjq.4_Missense_Mutation_p.G721S|SPEF2_uc003jjp.1_Missense_Mutation_p.G212S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	726					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATCCTAGATGGTTTTCCAAT	0.363000														17			8		0	0	0.000442599	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953658	72953658	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:72953658G>A	uc010uks.1	+	7	659	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	206										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGACCATAAAGGAGCGGGCGC	0.592000														129			12		0	0	0.000219431	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273322	145273322	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:145273322G>A	uc001emn.4	+	2	546	c.176G>A	c.(175-177)gGa>gAa	p.G59E	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.G59E|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G59E|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	59	EGF-like 2.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGGTTTACAGGAGAGGACTGC	0.577000														694			89		0	0	0.000781405	0	0
TACR1	6869	broad.mit.edu	37	2	75425772	75425772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:75425772C>T	uc002sng.2	-	0	874	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TACR1_uc002snh.3_Missense_Mutation_p.E97K	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGTACCATTCGTTGTGGACA	0.517000														96			31		0	0	0.000814825	0	0
KRT6A	3853	broad.mit.edu	37	12	52882228	52882228	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:52882228C>T	uc001sam.3	-	6	1517	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	436	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTGGCCTTCTGCAGGG	0.622000														106			21		0	0	0.000375601	0	0
C4orf22	255119	broad.mit.edu	37	4	81283940	81283940	+	Silent	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:81283940A>G	uc010ijp.3	+	1	193	c.144A>G	c.(142-144)ctA>ctG	p.L48L	C4orf22_uc003hmf.3_Silent_p.L48L	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	48										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TGGTGGAGCTAGGCTACCGAG	0.448000														95			38		0	0	0.00195071	0	0
YLPM1	56252	broad.mit.edu	37	14	75276309	75276309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:75276309G>A	uc001xqj.4	+	6	4872	c.4748G>A	c.(4747-4749)tGg>tAg	p.W1583*	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Nonsense_Mutation_p.W66*	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGGGCTCTGGGATACAAAT	0.468000														16			7		0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21228808	21228808	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:21228808G>A	uc002red.3	-	25	11060	c.10932C>T	c.(10930-10932)ttC>ttT	p.F3644F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3644					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGGCTCTGGAAAGACCCAG	0.458000														182			92		0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94528755	94528755	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:94528755G>A	uc001dqh.3	-	11	1777	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	ABCA4_uc010otn.1_Missense_Mutation_p.P558L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	558					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P558P(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGGTCCAGGGATACATGTC	0.473000														106			29		0	0	0.000878237	0	0
HSD11B1	3290	broad.mit.edu	37	1	209907681	209907681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:209907681C>T	uc001hhj.3	+	6	826	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	HSD11B1_uc021pin.1_Missense_Mutation_p.H232Y|HSD11B1_uc001hhk.3_Missense_Mutation_p.H232Y	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	232					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TGGGATAGTCCATATGCAAGC	0.488000														13			5		0	0	0.00116845	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649346	51649346	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51649346C>T	uc002pvv.1	+	3	1064	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SIGLEC7_uc002pvw.1_Missense_Mutation_p.S239F|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	332	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CAGCACGTTTCCCTGAACCTC	0.607000														55			23		0	0	0.000375601	0	0
LRRC16A	55604	broad.mit.edu	37	6	25471398	25471398	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:25471398C>T	uc011djw.2	+	10	1059	c.691_splice	c.e10-1	p.S231_splice	LRRC16A_uc010jpy.3_Splice_Site_p.S231_splice|LRRC16A_uc003nez.1_Splice_Site_p.S70_splice	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	231					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGTTACAGTCCACTGATGTC	0.348000														61			33		0	0	0.00111076	0	0
LILRA4	23547	broad.mit.edu	37	19	54849228	54849228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:54849228G>A	uc002qfj.3	-	3	691	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	LILRA4_uc002qfi.3_Missense_Mutation_p.P146S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	212	Ig-like C2-type 2.					integral to membrane	receptor activity	p.P212L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGCTGCAGGGGGTCACTGGGT	0.572000														39			15		0	0	0.000422831	0	0
NUP98	4928	broad.mit.edu	37	11	3797179	3797179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:3797179G>A	uc001lyh.3	-	4	849	c.428C>T	c.(427-429)aCa>aTa	p.T143I	NUP98_uc001lyi.3_Missense_Mutation_p.T143I|NUP98_uc001lyj.2_Missense_Mutation_p.T143I|NUP98_uc001lyk.2_Missense_Mutation_p.T143I|NUP98_uc010qxv.2_Missense_Mutation_p.T106I	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	143	Gly/Thr-rich.				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			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)		GGAGCCAGATGTGCTGCCAAA	0.393000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									109			71		0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92086160	92086160	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:92086160G>A	uc001pdj.4	+	0	899	c.882G>A	c.(880-882)gcG>gcA	p.A294A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	294	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGATGGAGCGAATGGAGAGA	0.438000										TCGA Ovarian(4;0.039)				185			34		0	0	0.000692331	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:143028681C>T	uc003wcr.1	+	9	1189	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	CLCN1_uc011ktc.1_Silent_p.L30L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000														65			27		0	0	0.000409698	0	0
FGD6	55785	broad.mit.edu	37	12	95603831	95603831	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:95603831G>A	uc001tdp.4	-	1	1453	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	410					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTTTCAAAGGAAGTTGTTTC	0.378000														92			23		0	0	0.00106085	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411081	32411081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:32411081G>A	uc003obh.3	+	2	557	c.448G>A	c.(448-450)Gga>Aga	p.G150R	HLA-DRA_uc003obi.3_Missense_Mutation_p.G125R	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	150	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity	p.G150R(2)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GCTTCGAAATGGAAAACCTGT	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					60			29		0	0	0.00106085	0	0
LRP2	4036	broad.mit.edu	37	2	170060581	170060581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170060581C>T	uc002ues.3	-	41	8129	c.7916G>A	c.(7915-7917)gGa>gAa	p.G2639E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2639					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGTTGATTCCCCTGGGCTG	0.458000														115			49		0	0	0.000781405	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350529	134350529	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:134350529G>A	uc003qem.1	-	1	605	c.434C>T	c.(433-435)tCc>tTc	p.S145F		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	145						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGAAGAGAGGGAGATGGAGAC	0.488000														36			13		0	0	0.000219431	0	0
MERTK	10461	broad.mit.edu	37	2	112751933	112751933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:112751933G>A	uc002thk.1	+	8	1524	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	MERTK_uc002thl.1_Missense_Mutation_p.G292R	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	468	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACCAGAGGGGGAGTTGGGCC	0.542000														104			51		0	0	0.000781405	0	0
PRR12	57479	broad.mit.edu	37	19	50128183	50128183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:50128183C>T	uc002poo.4	+	11	5804	c.5804C>T	c.(5803-5805)cCt>cTt	p.P1935L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	1114							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGCTGCGGCCTGCTGGGGAA	0.667000														42			13		0	0	0.00136819	0	0
FMO2	2327	broad.mit.edu	37	1	171174706	171174706	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171174706C>T	uc001ghk.1	+	6	1233	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	FMO2_uc010pmd.1_Silent_p.I152I	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	372					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGTCTCATCCAGCCCCTAG	0.458000														20			4		0	0	0.000602214	0	0
LRCH4	4034	broad.mit.edu	37	7	100173606	100173606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:100173606G>A	uc003uvj.3	-	15	1717	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	SAP25_uc003uvh.3_5'Flank|SAP25_uc022aip.1_5'Flank|LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_Missense_Mutation_p.P82L	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	555	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGGCAGGGGCCGCTGCAG	0.677000														17			9		0	0	0.000274275	0	0
GLYAT	10249	broad.mit.edu	37	11	58477282	58477282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58477282G>A	uc001nnb.3	-	5	1003	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCTGGGAATGGGAACATGTTG	0.458000														15			11		0	0	0.000978159	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048297	55048297	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:55048297C>T	uc010erm.2	+	0	177	c.165C>T	c.(163-165)gtC>gtT	p.V55V	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.									p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAACGCCAGTCCCTGGCGGGA	0.572000														71			31		0	0	0.00178596	0	0
NLRP3	114548	broad.mit.edu	37	1	247587774	247587774	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:247587774G>A	uc001icr.3	+	4	1167	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	NLRP3_uc001ics.3_Silent_p.E343E|NLRP3_uc001icu.3_Silent_p.E343E|NLRP3_uc001icw.3_Silent_p.E343E|NLRP3_uc001icv.3_Silent_p.E343E|NLRP3_uc010pyw.2_Silent_p.E341E|NLRP3_uc001ict.1_Silent_p.E341E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	343	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTTCCCGAGGCCTCTCTGC	0.592000														70			16		0	0	0.00074312	0	0
EYA1	2138	broad.mit.edu	37	8	72211462	72211462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:72211462G>A	uc003xyu.3	-	8	1286	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	EYA1_uc003xyt.4_Missense_Mutation_p.P183S|EYA1_uc003xyr.4_Missense_Mutation_p.P211S|EYA1_uc010lzf.3_Missense_Mutation_p.P143S|EYA1_uc003xys.4_Missense_Mutation_p.P216S|EYA1_uc011lfe.2_Missense_Mutation_p.P210S|EYA1_uc003xyv.3_Missense_Mutation_p.P94S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	216					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGATAAGACGGATAGTCCTAC	0.428000														28			14		0	0	0.000422831	0	0
PTPRT	11122	broad.mit.edu	37	20	40790158	40790158	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:40790158G>A	uc002xkg.3	-	16	2700	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	PTPRT_uc010ggj.3_Missense_Mutation_p.S858F|PTPRT_uc010ggi.3_Missense_Mutation_p.S42F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	839					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGCTGGGAAAGCTCCCC	0.597000														50			16		0	0	0.00152264	0	0
BLK	640	broad.mit.edu	37	8	11400850	11400850	+	Silent	SNP	G	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:11400850G>C	uc003wty.3	+	1	698	c.117G>C	c.(115-117)ccG>ccC	p.P39P		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGCCACTGCCGCCCCTGGTGA	0.532000														25			10		0	0	0.000673444	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813372	106813372	+	Silent	SNP	G	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:106813372G>C	uc003ymd.3	+	7	1085	c.1062G>C	c.(1060-1062)ctG>ctC	p.L354L	ZFPM2_uc011lhs.2_Silent_p.L85L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	354					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCAACACCTGTTCTCCCATC	0.498000														72			35		0	0	0.000814825	0	0
TOMM22	56993	broad.mit.edu	37	22	39078936	39078936	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:39078936C>T	uc003awe.3	+	2	319	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	BC036921_uc003awd.3_5'Flank	NM_020243	NP_064628	Q9NS69	TOM22_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 22 homolog (yeast) (TOMM22), nuclear gene encoding mitochondrial protein, mRNA.	97	TMD; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GATCCTGGTTCTTCCCGTTGT	0.527000														126			30		0	0	0.00178596	0	0
RHCE	6006	broad.mit.edu	37	1	25712296	25712296	+	Missense_Mutation	SNP	C	T	T	rs1053369		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:25712296C>T	uc001bkf.3	-	6	1065	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RHCE_uc001bkg.3_Intron|RHCE_uc001bkh.3_Missense_Mutation_p.V222I|RHCE_uc001bki.3_Missense_Mutation_p.V176I|RHCE_uc001bkj.3_Missense_Mutation_p.V311I	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	327						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGCATGACGGAGATGTGG	0.517000														80			21		0	0	0.00152264	0	0
DSCAML1	57453	broad.mit.edu	37	11	117321317	117321317	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:117321317C>T	uc001prh.1	-	19	3838	c.3836G>A	c.(3835-3837)gGg>gAg	p.G1279E		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1219	Fibronectin type-III 4.|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCGGATCACCCCGTTGGGCTT	0.567000														46			17		0	0	0.00121646	0	0
STAB1	23166	broad.mit.edu	37	3	52553306	52553306	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:52553306G>A	uc003dej.3	+	48	5135	c.5061G>A	c.(5059-5061)gcG>gcA	p.A1687A	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1687	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGACTTCGCGCGCGTGGTGA	0.642000														95			50		0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7684450	7684450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7684450C>T	uc002giu.1	+	37	6108	c.6094C>T	c.(6094-6096)Ccc>Tcc	p.P2032S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2032					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGATCTGTTTCCCAACATTGA	0.478000														155			35		0	0	0.00195071	0	0
LRRC7	57554	broad.mit.edu	37	1	70225901	70225901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:70225901G>A	uc001dep.3	+	0	44	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	LRRC7_uc001deo.1_Missense_Mutation_p.R43Q|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	5						centrosome|focal adhesion|nucleolus	protein binding	p.R5W(2)|p.R5R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACCACCAAACGGAAAATCATC	0.458000														5			3		0	0	0.00024832	0	0
ARID1B	57492	broad.mit.edu	37	6	157521929	157521929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:157521929C>T	uc003qqp.3	+	16	4162	c.4162C>T	c.(4162-4164)Cag>Tag	p.Q1388*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1401*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1441*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1388					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q1388E(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCAGCAGCAGGAGATGTA	0.597000														42			27		0	0	0.000720815	0	0
RBM22	55696	broad.mit.edu	37	5	150078131	150078131	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:150078131C>T	uc003lst.3	-	3	323	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	67					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTTCAGTCTTCTTGAAAC	0.463000														77			12		0	0	0.000219431	0	0
NFXL1	152518	broad.mit.edu	37	4	47907345	47907345	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:47907345A>G	uc010igh.3	-	3	602	c.425T>C	c.(424-426)tTa>tCa	p.L142S	NFXL1_uc003gxp.3_Missense_Mutation_p.L142S|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.L142S	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	142						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						TGTTCGCTCTAATTCACGTGT	0.343000														74			11		0	0	0.000978159	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	337898	337899	+	RNA	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrGL000192.1:337898_337899CC>TT	uc010yij.1	-	2		c.368_369GG>AA			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAAACTTTCCCAATATCCAGC	0.416000														14			9		0	0	6.4e-05	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860698	65860698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:65860698C>T	uc001dce.1	+	12	2222	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	DNAJC6_uc001dcd.1_Missense_Mutation_p.P617L|DNAJC6_uc010opc.1_Missense_Mutation_p.P604L	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	617	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACAAGAAGTCCTTCGCCCACA	0.423000														99			14		0	0	0.000422831	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530616	84530616	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:84530616G>A	uc011lst.2	+	3	638	c.537G>A	c.(535-537)ctG>ctA	p.L179L						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CCCCTGACCTGATCACCACCT	0.532000														30			9		0	0	0.000274275	0	0
PPIL1	51645	broad.mit.edu	37	6	36823754	36823754	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:36823754G>A	uc003omu.2	-	3	588	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	112	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GGGTCACAAAGAACTGGCTGC	0.532000														27			20		0	0	0.000375601	0	0
COL4A6	1288	broad.mit.edu	37	X	107422626	107422626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:107422626G>A	uc004enw.4	-	25	2280	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	COL4A6_uc004env.4_Missense_Mutation_p.P725L|COL4A6_uc011msn.2_Missense_Mutation_p.P725L|COL4A6_uc010npk.3_Missense_Mutation_p.P725L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	726	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGGAGCCCAGGAAACCCAGG	0.507000									Alport syndrome with Diffuse Leiomyomatosis					12			25		0	0	0.001512	0	0
C11orf63	79864	broad.mit.edu	37	11	122775005	122775005	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:122775005C>T	uc001pym.3	+	2	1014	c.717C>T	c.(715-717)ttC>ttT	p.F239F	C11orf63_uc001pyl.1_Silent_p.F239F	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	239										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACGAGGTTTTCCTGCCGGGAT	0.512000														121			38		0	0	0.000814825	0	0
EPHA4	2043	broad.mit.edu	37	2	222428737	222428737	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:222428737C>T	uc002vmq.3	-	2	579	c.537G>A	c.(535-537)aaG>aaA	p.K179K	EPHA4_uc002vmr.2_Silent_p.K179K|EPHA4_uc010zlm.1_Silent_p.K120K	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	179						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTAAAACCCCTTTTTGCTTA	0.512000														81			34		0	0	0.000814825	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894252	63894252	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:63894252G>A	uc003jtj.3	+	4	672	c.672G>A	c.(670-672)ttG>ttA	p.L224L	RGS7BP_uc011cqu.2_Silent_p.L91L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	224					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CTTTACCATTGAAAAATCAAG	0.343000														79			7		0	0	0.000157383	0	0
MYH2	4620	broad.mit.edu	37	17	10428906	10428906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10428906C>T	uc010coi.3	-	31	4527	c.4399G>A	c.(4399-4401)Gag>Aag	p.E1467K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1467K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1467					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGTTTCCTCACATTTCTGT	0.468000														47			11		0	0	0.000978159	0	0
IDO2	169355	broad.mit.edu	37	8	39840243	39840243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39840243C>T	uc010lwy.1	+	4	669	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Intron	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	130					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCCTGGTCCACTCAGACTT	0.478000														17			10		0	0	0.00185496	0	0
CSMD1	64478	broad.mit.edu	37	8	3889468	3889468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:3889468C>T	uc022aqr.1	-	3	959	c.569G>A	c.(568-570)gGa>gAa	p.G190E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	190	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACCATTTCCTGGGCTGAC	0.557000														27			24		0	0	0.000720815	0	0
NLRX1	79671	broad.mit.edu	37	11	119054038	119054038	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:119054038C>T	uc001pvu.3	+	9	3033	c.2818C>T	c.(2818-2820)Ctg>Ttg	p.L940L	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Silent_p.L940L|NLRX1_uc001pvx.3_Silent_p.L940L|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	940	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACTGCGGGATCTGGAAGATAG	0.617000														54			13		0	0	0.00136819	0	0
COL4A3	1285	broad.mit.edu	37	2	228137770	228137771	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:228137770_228137771GG>AA	uc002vom.2	+	25	2026_2027	c.1864_1865GG>AA	c.(1864-1866)gga>AAa	p.G622K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G622E(3)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACCCCAAGGAGAACCTGGT	0.624000														38			13		0	0	6.4e-05	0	0
PSMB10	5699	broad.mit.edu	37	16	67969901	67969901	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:67969901G>A	uc002eux.2	-	3	476	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_002801	NP_002792	P40306	PSB10_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA.	116					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GAGTGACCGTGGCCACGCGGG	0.677000														39			17		0	0	0.000958276	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183149	140183149	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:140183149G>A	uc003lhf.2	+	0	2367	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Q789Q	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	764					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAAACAGGATGTGGACG	0.453000														52			48		0	0	0.000781405	0	0
OR1L8	138881	broad.mit.edu	37	9	125330664	125330664	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:125330664G>A	uc004bmp.1	-	0	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGATGAGGAAGAGAACAAAGA	0.502000														46			22		0	0	0.000295444	0	0
ATP2B2	491	broad.mit.edu	37	3	10442635	10442635	+	Splice_Site	SNP	A	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:10442635A>C	uc003bvt.3	-	5	1220	c.781_splice	c.e5+1	p.G261_splice	ATP2B2_uc003bvv.3_Splice_Site_p.G261_splice|ATP2B2_uc003bvw.3_Splice_Site_p.G261_splice|ATP2B2_uc010hdp.2_Splice_Site_p.G261_splice|ATP2B2_uc010hdo.3_Splice_Site	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	261					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTGAAGCTCACCTGACAGCA	0.557000														34			21		0	0	0.00127121	0	0
GLYATL2	219970	broad.mit.edu	37	11	58607023	58607023	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:58607023G>A	uc001nnd.4	-	1	194	c.63C>T	c.(61-63)atC>atT	p.I21I	GLYATL2_uc009ymq.3_Silent_p.I21I	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	21						mitochondrion	glycine N-acyltransferase activity	p.S20S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGGATTCAGGGATGCTCTTTT	0.428000														19			13		0	0	0.000219431	0	0
DENND2C	163259	broad.mit.edu	37	1	115168422	115168422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:115168422G>A	uc001efd.1	-	3	886	c.184C>T	c.(184-186)Cct>Tct	p.P62S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P62S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	62										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		TCAGCTATAGGATTTTTCTTA	0.388000														91			40		0	0	0.000589545	0	0
PVRL4	81607	broad.mit.edu	37	1	161049597	161049597	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161049597T>C	uc001fxo.2	-	1	521	c.222A>G	c.(220-222)gaA>gaG	p.E74E		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	74	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTGGGCGCCTTCGCCCGCGT	0.682000														60			41		0	0	0.000781405	0	0
SMARCA4	6597	broad.mit.edu	37	19	11130342	11130342	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:11130342G>A	uc010dxp.3	+	18	2941	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	SMARCA4_uc010dxo.3_Missense_Mutation_p.E861K|SMARCA4_uc002mqf.4_Missense_Mutation_p.E861K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E861K|SMARCA4_uc010dxq.3_Missense_Mutation_p.E861K|SMARCA4_uc010dxr.3_Missense_Mutation_p.E861K|SMARCA4_uc002mqj.4_Missense_Mutation_p.E861K|SMARCA4_uc010dxs.3_Missense_Mutation_p.E861K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E81K|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_5'Flank	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	861	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E861K(3)|p.Y860H(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGACGTACGAGTACATCAT	0.597000			"""F, N, Mis"""		NSCLC									16			9		0	0	0.000978159	0	0
ELP2	55250	broad.mit.edu	37	18	33744542	33744542	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:33744542C>T	uc010xcg.2	+	18	2121	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	ELP2_uc002kzk.2_Silent_p.F622F|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Silent_p.F596F|ELP2_uc010xch.2_Silent_p.F617F|ELP2_uc002kzn.2_Silent_p.F552F|ELP2_uc002kzo.2_Silent_p.F552F	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	622					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGATGGCCTTCTCACCTAATG	0.423000														30			15		0	0	0.000422831	0	0
WWC3	55841	broad.mit.edu	37	X	10098133	10098134	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:10098133_10098134CC>TT	uc004csx.4	+	17	2768_2769	c.2570_2571CC>TT	c.(2569-2571)ccc>cTT	p.P857L	WWC3_uc010nds.3_Missense_Mutation_p.P521L|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	857										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTTACAGCCCCGAGAAATTTC	0.545000														10			25		0	0	6.4e-05	0	0
TPO	7173	broad.mit.edu	37	2	1507836	1507836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:1507836G>A	uc002qwr.3	+	13	2589	c.2503G>A	c.(2503-2505)Ggg>Agg	p.G835R	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.G835R|TPO_uc002qwx.3_Missense_Mutation_p.G778R|TPO_uc002qwu.3_Missense_Mutation_p.G778R|TPO_uc010yio.2_Missense_Mutation_p.G662R|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	835	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.D834N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGAGACGATGGGAGAACCTG	0.557000														56			23		0	0	0.000586117	0	0
HPGDS	27306	broad.mit.edu	37	4	95229885	95229885	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:95229885C>T	uc003hte.1	-	3	327	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	79	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TTCTGTGTTTCCAGCCAAATC	0.338000														33			22		0	0	0.00152264	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818228	146818228	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:146818228G>A	uc003weu.2	+	5	1428	c.912G>A	c.(910-912)gaG>gaA	p.E304E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	304	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAATGGAGAGTTTGACTACC	0.463000										HNSCC(39;0.1)				36			11		0	0	0.00136819	0	0
PANK4	55229	broad.mit.edu	37	1	2452592	2452592	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:2452592C>T	uc001ajm.1	-	2	379	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	PANK4_uc010nza.1_Missense_Mutation_p.G124R	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	124					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.G124W(2)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCCCGCCCCCGGTCGCCTGG	0.532000														93			30		0	0	0.00111076	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948429	82948429	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:82948429A>T	uc003kim.3	-	1	386	c.315T>A	c.(313-315)taT>taA	p.Y105*	HAPLN1_uc003kin.3_Nonsense_Mutation_p.Y105*	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	105	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T104fs*8(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGTAGCCTCCATAGGTTTTTT	0.433000														70			21		0	0	0.000295444	0	0
CAPN11	11131	broad.mit.edu	37	6	44144035	44144035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:44144035C>T	uc003owt.1	+	8	999	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	321	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTCCGGAATCCCTGGGGCCG	0.597000														51			13		0	0	0.000219431	0	0
KAT2A	2648	broad.mit.edu	37	17	40271297	40271297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:40271297C>T	uc002hyx.2	-	5	1099	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	347					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTCCTCTTCTCGGGCACCAAT	0.547000														97			24		0	0	0.000878237	0	0
KIF2C	11004	broad.mit.edu	37	1	45205642	45205643	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:45205642_45205643CC>AA	uc001cmg.4	+	0	153_154	c.38_39CC>AA	c.(37-39)ccc>cAA	p.P13Q	KIF2C_uc010olb.2_Missense_Mutation_p.P13Q	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	13	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.P13P(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGCCTGTTTCCCGGTCTCGCTA	0.559000														447			10		0	0	6.4e-05	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265673	32265673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:32265673G>A	uc001bts.1	-	4	1730	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	SPOCD1_uc001btu.3_Missense_Mutation_p.P558S|SPOCD1_uc001btv.3_Missense_Mutation_p.P51S|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	558					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCGCTTCTTGGAGGGTAGAAG	0.622000														19			9		0	0	0.000274275	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073668	73073668	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:73073668C>A	uc001otu.3	+	13	4906	c.4885C>A	c.(4885-4887)Cgc>Agc	p.R1629S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1629					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						GGGTGACCCCCGCCCAGAGCT	0.697000														30			11		4.68919e-08	2.79821e-07	0.000673444	1	0
C9orf152	401546	broad.mit.edu	37	9	112963727	112963727	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:112963727G>A	uc011lwk.2	-	1	775	c.221C>T	c.(220-222)tCg>tTg	p.S74L	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	74										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGACCATCGATTCTGCAGG	0.552000														29			6		0	0	0.00116845	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540305	96540305	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:96540305G>A	uc010qnz.2	+	3	531	c.531G>A	c.(529-531)gtG>gtA	p.V177V	CYP2C19_uc009xus.1_Silent_p.V42V|CYP2C19_uc010qny.2_Silent_p.V155V	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	177					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTGCAATGTGATCTGCTCCA	0.353000														33			26		0	0	0.00106085	0	0
FBN3	84467	broad.mit.edu	37	19	8196549	8196549	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8196549C>T	uc002mjf.3	-	13	1896	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	627	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGGAGCCCTTCTCGATG	0.677000														51			27		0	0	0.00106085	0	0
DISP1	84976	broad.mit.edu	37	1	223175966	223175966	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:223175966C>T	uc001hnu.2	+	9	1553	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	409					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGGACCAGCTCAAGTGCACCA	0.507000											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		283			164		0	0	0.000781405	0	0
PHF12	57649	broad.mit.edu	37	17	27248758	27248758	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:27248758C>T	uc002hdg.1	-	4	1314	c.784G>A	c.(784-786)Gat>Aat	p.D262N	PHF12_uc010wbb.1_Missense_Mutation_p.D244N|PHF12_uc002hdi.1_Missense_Mutation_p.D258N|PHF12_uc002hdj.1_Missense_Mutation_p.D262N|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdh.1_Missense_Mutation_p.D45N	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	262	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATTGTGATCTAATTCATGC	0.408000														52			28		0	0	0.000878237	0	0
BMP1	649	broad.mit.edu	37	8	22052249	22052249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:22052249G>A	uc003xbg.3	+	11	1722	c.1456G>A	c.(1456-1458)Gac>Aac	p.D486N	BMP1_uc003xbf.3_Missense_Mutation_p.D235N|BMP1_uc003xbb.3_Missense_Mutation_p.D486N|BMP1_uc003xbc.3_Missense_Mutation_p.D235N|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.D235N|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	486	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGAGCGCCACGACAGCTGTGC	0.612000														31			13		0	0	0.00185496	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53854516C>T	uc010ydv.1	+	3	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_uc010ydw.1_Silent_p.F196F	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000														91			34		0	0	0.000339439	0	0
POM121L12	285877	broad.mit.edu	37	7	53103569	53103569	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:53103569G>A	uc003tpz.3	+	0	221	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	69								p.W68R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTCCAGTGGGGGCGCCCGGT	0.706000														39			15		0	0	0.00074312	0	0
C1S	716	broad.mit.edu	37	12	7169848	7169848	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7169848C>T	uc001qsj.3	+	5	794	c.75C>T	c.(73-75)tcC>tcT	p.S25S	C1S_uc001qsk.3_Silent_p.S25S|C1S_uc001qsl.3_Silent_p.S25S|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	25	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGATCCTGTCCCCTAACTATC	0.478000														46			59		0	0	0.000781405	0	0
WDR16	146845	broad.mit.edu	37	17	9515667	9515667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:9515667G>A	uc010coc.3	+	8	1155	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	WDR16_uc002gly.3_Missense_Mutation_p.R299Q|WDR16_uc002glz.3_Missense_Mutation_p.R231Q			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	299						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCACACTTCGAGGAGAAGGA	0.428000														61			11		0	0	0.000673444	0	0
VPS41	27072	broad.mit.edu	37	7	38869877	38869878	+	Missense_Mutation	DNP	CC	AA	AA	rs142066348		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:38869877_38869878CC>AA	uc003tgy.3	-	4	323_324	c.297_298GG>TT	c.(295-300)atgggt>atTTgt	p.99_100MG>IC	VPS41_uc003tgz.3_Intron|VPS41_uc010kxn.3_Missense_Mutation_p.99_100MG>IC	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	99					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GAACACACACCCATGTGCTCTC	0.426000														550			11		0	0	6.4e-05	0	0
KRT10	3858	broad.mit.edu	37	17	38978582	38978582	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:38978582G>A	uc002hvi.3	-	0	282	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	86	Gly-rich.|Head.			R -> H (in Ref. 2; CAA32649).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAGCTTCCACGAAAGCTACCT	0.572000														142			39		0	0	0.000509022	0	0
OR2B3	442184	broad.mit.edu	37	6	29054407	29054407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29054407G>A	uc003nlx.3	-	0	684	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGAATTAGAAGAATTAGTACA	0.433000														32			23		0	0	0.000295444	0	0
EPHA3	2042	broad.mit.edu	37	3	89259646	89259646	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:89259646G>A	uc003dqy.3	+	2	1015	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	EPHA3_uc003dqx.1_Missense_Mutation_p.E264K|EPHA3_uc021xbf.1_Missense_Mutation_p.E264K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	264	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGCTGGCTATGAAGAAAGAGG	0.403000										TSP Lung(6;0.00050)				76			41		0	0	0.000781405	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983606	51983606	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:51983606G>A	uc002pwv.1	+	2	255	c.255G>A	c.(253-255)ggG>ggA	p.G85G		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	85						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTGTGGGATCTGCCAGG	0.507000														12			4		0	0	0.00116845	0	0
PEG3	5178	broad.mit.edu	37	19	57286462	57286462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57286462G>A	uc002qnr.2	-	10	1560	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.S189F|PEG3_uc010ygq.1_Missense_Mutation_p.S189F|PEG3_uc010etp.2_Missense_Mutation_p.S393F|PEG3_uc010ygs.1_Missense_Mutation_p.S393F|PEG3_uc002qnq.2_Missense_Mutation_p.S393F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	547					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R393C(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACTGGACGGAAGGCTTTCT	0.468000														34			18		0	0	0.00074312	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101815889	101815889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:101815889C>T	uc003knn.3	-	1	780	c.608G>A	c.(607-609)gGa>gAa	p.G203E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G203E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G203E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G203E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	203						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCTTCAATTCCTACCTTACT	0.294000														11			5		0	0	0.000602214	0	0
TPTE2	93492	broad.mit.edu	37	13	20039430	20039430	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:20039430C>T	uc001umd.3	-	9	852	c.641G>A	c.(640-642)aGg>aAg	p.R214K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R103K|TPTE2_uc001ume.3_Missense_Mutation_p.R137K|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	214	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R214M(1)|p.V214F(1)|p.R137M(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAATCCATCCCTTGTGTATCG	0.294000														149			34		0	0	0.00170553	0	0
TTN	7273	broad.mit.edu	37	2	179602902	179602902	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:179602902G>A	uc021vsy.1	-	45	10771	c.10546C>T	c.(10546-10548)Ctg>Ttg	p.L3516L	TTN_uc021vsz.1_Silent_p.L4589L|TTN_uc021vta.1_Silent_p.L4522L|TTN_uc021vtb.1_Silent_p.L4397L|TTN_uc002umz.1_Silent_p.L177L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4443	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTTCTCAGGATTTCAAGG	0.458000														12			5		0	0	0.000602214	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853742	22853742	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:22853742C>T	uc001yuq.2	+	11	1510	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	TUBGCP5_uc001yur.4_Silent_p.L460L|TUBGCP5_uc010axz.1_Silent_p.L47L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	460					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGGTCTCCCTCCTTTTCTCTC	0.537000														13			7		0	0	8.12818e-05	0	0
VARS	7407	broad.mit.edu	37	6	31748310	31748311	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31748310_31748311CC>AA	uc003nxe.3	-	24	3255_3256	c.2832_2833GG>TT	c.(2830-2835)ctgggt>ctTTgt	p.G945C	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	945					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGCGGTAACCCAGTATCCGGT	0.589000														397			9		0	0	6.4e-05	0	0
EEF2K	29904	broad.mit.edu	37	16	22278015	22278015	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:22278015C>T	uc002dki.3	+	14	2067	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	528					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCAGGTCCATCTGGCCATGGT	0.662000														31			20		0	0	0.00152264	0	0
VWA3A	146177	broad.mit.edu	37	16	22157565	22157565	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:22157565G>A	uc010vbq.2	+	26	2835	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'UTR|VWA3A_uc010bxe.1_5'UTR	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	913						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGAGTGGTGAGACACATCC	0.532000														27			6		0	0	8.12818e-05	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406625	55406625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:55406625G>A	uc003pcn.3	-	3	448	c.289C>T	c.(289-291)Cct>Tct	p.P97S	HMGCLL1_uc011dxe.2_Missense_Mutation_p.P67S|HMGCLL1_uc003pco.3_Missense_Mutation_p.P67S|HMGCLL1_uc010jzx.3_5'UTR|HMGCLL1_uc011dxc.2_Missense_Mutation_p.P67S|HMGCLL1_uc011dxd.2_Missense_Mutation_p.P67S|HMGCLL1_uc003pcp.3_Missense_Mutation_p.P67S	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	97							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATATCTGTAGGAACTATAACC	0.313000														22			10		0	0	0.000442599	0	0
TXNL4A	10907	broad.mit.edu	37	18	77748263	77748263	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:77748263C>T	uc002lnp.3	-	0	270	c.130G>A	c.(130-132)Gtc>Atc	p.V44I	TXNL4A_uc002lnr.3_Missense_Mutation_p.V44I|TXNL4A_uc010drf.3_Non-coding_Transcript|TXNL4A_uc010drg.3_Intron	NM_006701	NP_006692	P83876	TXN4A_HUMAN	Homo sapiens thioredoxin-like 4A (TXNL4A), mRNA.	44					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CTGTACAGGACCTCGTCCATC	0.682000														8			4		0	0	0.00116845	0	0
CCDC91	55297	broad.mit.edu	37	12	28459758	28459758	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:28459758C>T	uc001riq.3	+	3	365	c.351C>T	c.(349-351)gcC>gcT	p.A117A	CCDC91_uc001rio.3_Silent_p.A87A|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Silent_p.A117A|CCDC91_uc009zjl.3_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	117					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GAACAATTGCCCTTGTGGATG	0.358000														10			4		0	0	0.000602214	0	0
CATSPERB	79820	broad.mit.edu	37	14	92047361	92047361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:92047361C>T	uc001xzs.1	-	26	3363	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T	CATSPERB_uc010aub.1_Missense_Mutation_p.A597T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	1075					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACATAAATGCTATAAAAATT	0.438000														48			13		0	0	0.00136819	0	0
PLCH1	23007	broad.mit.edu	37	3	155199869	155199869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:155199869C>T	uc021xge.1	-	22	4247	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.D1286N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1324					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTCCCAGTCTTCTCCCTTG	0.512000														46			34		0	0	0.000491102	0	0
EFTUD2	9343	broad.mit.edu	37	17	42957932	42957932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:42957932C>T	uc002ihn.2	-	7	870	c.609G>A	c.(607-609)atG>atA	p.M203I	EFTUD2_uc010wje.1_Missense_Mutation_p.M168I|EFTUD2_uc010wjf.1_Missense_Mutation_p.M193I	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	203						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTGGAGTGTCCATGATATTGA	0.453000														56			23		0	0	0.000586117	0	0
DNAH9	1770	broad.mit.edu	37	17	11645623	11645623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:11645623C>T	uc002gne.3	+	29	6172	c.6104C>T	c.(6103-6105)tCc>tTc	p.S2035F	DNAH9_uc010coo.3_Missense_Mutation_p.S1329F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2035	AAA 1 (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)		GAGCTTCTCTCCAAACAGGTA	0.453000														60			16		0	0	0.00188189	0	0
C3orf22	152065	broad.mit.edu	37	3	126270960	126270960	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:126270960G>A	uc003ejb.3	-	2	424	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	32								p.S32L(2)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGTCAGCCACGACAACCTGCA	0.577000														31			23		0	0	0.000586117	0	0
FST	10468	broad.mit.edu	37	5	52781804	52781804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:52781804G>A	uc003jpd.3	+	5	1334	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FST_uc003jpc.3_3'UTR	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	326	Asp/Glu-rich (highly acidic).				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CACCGAGGAAGAGGAGGAAGA	0.443000														80			49		0	0	0.000781405	0	0
OR5D13	390142	broad.mit.edu	37	11	55541254	55541254	+	Missense_Mutation	SNP	C	T	T	rs150275540	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:55541254C>T	uc010ril.2	+	0	341	c.341C>T	c.(340-342)aCt>aTt	p.T114I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTGACAGAAACTTTCATGTTA	0.418000														48			16		0	0	0.000422831	0	0
GPR116	221395	broad.mit.edu	37	6	46826172	46826172	+	Silent	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:46826172A>G	uc003oyo.3	-	16	3757	c.3468T>C	c.(3466-3468)taT>taC	p.Y1156Y	GPR116_uc011dwj.1_Silent_p.Y711Y|GPR116_uc011dwk.1_Silent_p.Y585Y|GPR116_uc003oyp.3_Silent_p.Y1014Y|GPR116_uc003oyq.3_Silent_p.Y1156Y|GPR116_uc010jzi.1_Silent_p.Y828Y	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1156					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCTTCCTCGTATAGACTTCCC	0.562000														22			14		0	0	0.00185496	0	0
C11orf84	144097	broad.mit.edu	37	11	63586056	63586056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:63586056C>T	uc001nxt.3	+	3	901	c.665C>T	c.(664-666)cCc>cTc	p.P222L		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	222	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGGAAGGAACCCCCAGGGGAA	0.562000														46			30		0	0	0.000339439	0	0
CPT1A	1374	broad.mit.edu	37	11	68542821	68542821	+	Missense_Mutation	SNP	G	A	A	rs146533704		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68542821G>A	uc001oog.4	-	12	1708	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	CPT1A_uc001oof.4_Missense_Mutation_p.P513L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	513					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTGGGGTACGGAATGTTCGG	0.498000														101			16		0	0	0.000422831	0	0
TEX2	55852	broad.mit.edu	37	17	62290114	62290114	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62290114G>A	uc002jed.3	-	1	1615	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	TEX2_uc002jec.3_Silent_p.I488I|TEX2_uc002jee.3_Silent_p.I488I	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	488					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGAGGGGGAGGATGAGGTACA	0.512000														41			24		0	0	0.000586117	0	0
CD163	9332	broad.mit.edu	37	12	7640420	7640420	+	Missense_Mutation	SNP	G	A	A	rs61729511	byFrequency	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7640420G>A	uc001qsz.3	-	6	1812	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	CD163_uc001qta.3_Missense_Mutation_p.R562C|CD163_uc009zfw.2_Missense_Mutation_p.R562C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	562	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTTCTGGGCGGGGTGCTACT	0.507000														40			9		0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10400755	10400755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10400755C>T	uc002gmo.3	-	31	4474	c.4380G>A	c.(4378-4380)tgG>tgA	p.W1460*	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1460						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTTCTGTTTCCATTCTGCCA	0.393000														18			20		0	0	0.00152264	0	0
VGLL2	245806	broad.mit.edu	37	6	117589530	117589530	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:117589530T>C	uc003pxn.3	+	1	473	c.267T>C	c.(265-267)acT>acC	p.T89T	VGLL2_uc003pxo.3_Silent_p.T89T	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	89					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TCCTCTTCACTTATTTCCAGG	0.562000														64			40		0	0	0.00111076	0	0
KLHL23	151230	broad.mit.edu	37	2	170592141	170592141	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:170592141A>G	uc002ufh.2	+	3	992	c.617A>G	c.(616-618)aAg>aGg	p.K206R	KLHL23_uc002ufi.2_Missense_Mutation_p.K206R	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	206	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCAGTTATTAAGTGGACTGCT	0.348000														38			15		0	0	0.000566183	0	0
NEGR1	257194	broad.mit.edu	37	1	72241922	72241922	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:72241922G>A	uc001dfw.3	-	2	696	c.468C>T	c.(466-468)gtC>gtT	p.V156V	NEGR1_uc001dfv.3_Silent_p.V28V|NEGR1_uc010oqs.2_Silent_p.V156V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	156	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGTAAGAGTGACGTTGGTTC	0.393000														13			13		0	0	0.00136819	0	0
EPHA6	285220	broad.mit.edu	37	3	97311469	97311469	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:97311469C>T	uc010how.1	+	11	2443	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.A166A|EPHA6_uc003drs.4_Silent_p.A192A|EPHA6_uc003drr.4_Silent_p.A192A|EPHA6_uc003drt.3_Silent_p.A192A|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	705	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCTTCCCGGCCATTGGGGTGG	0.458000														36			25		0	0	0.000878237	0	0
FAM176A	84141	broad.mit.edu	37	2	75745192	75745192	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:75745192G>A	uc002sni.2	-	2	553	c.75C>T	c.(73-75)tcC>tcT	p.S25S	FAM176A_uc002snj.1_Silent_p.S12S|FAM176A_uc002snk.1_Silent_p.S25S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	25	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						CTGAGACAAAGGAATAGGCCG	0.597000														21			11		0	0	0.000673444	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999892	112999892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:112999892C>T	uc001ebx.3	+	5	2006	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	593						actin cytoskeleton	protein binding	p.S592Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCCTTCTCCATCTGCTACC	0.552000														54			20		0	0	0.00188189	0	0
OTOP1	133060	broad.mit.edu	37	4	4199131	4199131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:4199131G>A	uc003ghp.1	-	4	1460	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	477					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGGGGCAGGAAGAAGCAAG	0.542000														54			34		0	0	0.000814825	0	0
RLF	6018	broad.mit.edu	37	1	40656510	40656510	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:40656510C>T	uc001cfc.4	+	2	490	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	153					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.F153F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGCTACCATTCCTTCAGTCTC	0.363000														26			11		0	0	0.00136819	0	0
ARPP21	10777	broad.mit.edu	37	7	38305071	38305071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:38305071C>T	uc003tge.1	-	4	1013	c.636G>A	c.(634-636)atG>atA	p.M212I	ARPP21_uc022aby.1_Missense_Mutation_p.M8I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.M8I|ARPP21_uc003tgc.1_Missense_Mutation_p.M8I|ARPP21_uc003tgd.1_Missense_Mutation_p.M8I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCTAAATTTCATGTATGTGT	0.393000														95			48		0	0	0.000781405	0	0
PRSS35	167681	broad.mit.edu	37	6	84234295	84234295	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:84234295C>T	uc003pjz.3	+	1	1375	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	PRSS35_uc010kbm.3_Missense_Mutation_p.H379Y|PRSS35_uc021zce.1_Missense_Mutation_p.H379Y	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	379	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGTGGATGTCCACGGGGTTCA	0.512000														11			22		0	0	0.000878237	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032761	46032761	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:46032761C>T	uc002zfo.1	+	0	766	c.744C>T	c.(742-744)ttC>ttT	p.F248F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	248						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						gcctgtccttcctctgccgcc	0.721000														28			9		0	0	0.000442599	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174259	150174259	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:150174259C>T	uc003whj.3	+	4	1719	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	463						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.V463I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGAGCCTCGTCTTCACCTCTC	0.592000														60			37		0	0	0.000953801	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204063	10204063	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:10204063G>A	uc002mmy.1	-	4	1376	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	ANGPTL6_uc002mmx.2_Missense_Mutation_p.P395L	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	395	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GGTGCTGAAGGGCTTGTCATT	0.577000														102			38		0	0	0.00128727	0	0
TIGD3	220359	broad.mit.edu	37	11	65123330	65123330	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65123330G>A	uc021qlj.1	+	0	51	c.51G>A	c.(49-51)aaG>aaA	p.K17K	TIGD3_uc001odo.4_Silent_p.K17K	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	17	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGCCGAGAAGATCCAGGTGC	0.612000														53			29		0	0	0.000878237	0	0
NEBL	10529	broad.mit.edu	37	10	21074722	21074722	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:21074722C>T	uc001iqi.3	-	27	3396	c.2999G>A	c.(2998-3000)gGg>gAg	p.G1000E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.G256E|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	1000	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGTTCTCCCTGTTCTCTG	0.458000														19			12		0	0	0.00136819	0	0
HTR1D	3352	broad.mit.edu	37	1	23519749	23519749	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:23519749G>A	uc001bgn.3	-	0	1474	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	322					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAGGACCAGAGACACCACG	0.522000														77			19		0	0	0.000958276	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934493	113934493	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113934493C>T	uc001pop.3	+	1	735	c.471C>T	c.(469-471)ttC>ttT	p.F157F	ZBTB16_uc001poo.1_Silent_p.F157F|ZBTB16_uc001poq.3_Silent_p.F157F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	157					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAACATCTTCATCTCGAAGC	0.602000														37			22		0	0	0.000295444	0	0
ZNF831	128611	broad.mit.edu	37	20	57769665	57769665	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:57769665G>A	uc002yan.3	+	0	3591	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1197						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCCGCGGAGCAGAAGGCAA	0.632000														14			14		0	0	0.000566183	0	0
CDH8	1006	broad.mit.edu	37	16	61761118	61761118	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:61761118C>T	uc002eog.2	-	9	2370	c.1415_splice	c.e9-1	p.R472_splice	CDH8_uc002eoh.3_Splice_Site_p.R241_splice	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGTGGTTCCCTATGGGAA	0.413000														9			3		0	0	0.00024832	0	0
HMBOX1	79618	broad.mit.edu	37	8	28908624	28908624	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:28908624C>T	uc003xhd.4	+	9	1557	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Silent_p.A405A|HMBOX1_uc011lay.2_Silent_p.A428A|HMBOX1_uc003xhg.3_3'UTR|HMBOX1_uc003xhf.3_Silent_p.A391A|5S_rRNA_uc022atj.1_5'Flank	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	405					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGCATTGGCCCGACAAGGAG	0.483000														41			15		0	0	0.000422831	0	0
PIGR	5284	broad.mit.edu	37	1	207103753	207103753	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:207103753G>A	uc001hez.3	-	10	2389	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	PIGR_uc009xbz.3_Silent_p.S735S	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	735						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCTCCTTGGATGACTAAG	0.617000														52			5		0	0	0.00116845	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693052	69693052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:69693052C>T	uc003hee.3	+	4	1118	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	UGT2B10_uc011cam.2_Missense_Mutation_p.P281S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	365					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCTAGGTCATCCAAAAACCAG	0.383000														16			11		0	0	0.000219431	0	0
USP44	84101	broad.mit.edu	37	12	95926668	95926668	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:95926668C>T	uc001teg.3	-	1	1509	c.1365G>A	c.(1363-1365)agG>agA	p.R455R	USP44_uc001teh.3_Silent_p.R455R|USP44_uc009zte.3_Silent_p.R452R	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	455					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGATGAGTTTCCTTTGAGAAG	0.338000														59			9		0	0	0.000978159	0	0
GBP2	2634	broad.mit.edu	37	1	89573959	89573959	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:89573959G>A	uc001dmz.1	-	10	1946	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	559					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCTCCTTGAGAAGGCGTTCC	0.408000														38			11		0	0	0.000673444	0	0
PVR	5817	broad.mit.edu	37	19	45162131	45162132	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:45162131_45162132CC>AA	uc002ozm.3	+	5	1412_1413	c.1113_1114CC>AA	c.(1111-1116)tcccgt>tcAAgt	p.R372S	PVR_uc010ejs.3_Missense_Mutation_p.R372S|PVR_uc010xxb.2_Intron|PVR_uc010xxc.2_Intron|PVR_uc002ozn.3_Missense_Mutation_p.R317S	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	372	DYNLT1 binding.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCAAATGTTCCCGTGAGGTCCT	0.520000														780			14		0	0	6.4e-05	0	0
C1S	716	broad.mit.edu	37	12	7177568	7177568	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7177568G>A	uc001qsj.3	+	14	2399	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	C1S_uc001qsk.3_Missense_Mutation_p.M560I|C1S_uc001qsl.3_Missense_Mutation_p.M560I|C1S_uc009zfr.3_Missense_Mutation_p.M393I|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	560	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ACAACCTCATGGATGGGGACC	0.547000														28			6		0	0	0.00116845	0	0
ABCC6	368	broad.mit.edu	37	16	16271312	16271312	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:16271312C>T	uc002den.4	-	18	2624	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	863					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTAGTACCTCCTTCTCCTCTA	0.582000														82			37		0	0	0.00128727	0	0
SHBG	6462	broad.mit.edu	37	17	7535033	7535033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:7535033C>T	uc002gie.2	+	4	720	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SHBG_uc010cmu.2_Missense_Mutation_p.P170S|SHBG_uc010cmo.2_Missense_Mutation_p.P116S|SHBG_uc010cmp.2_Missense_Mutation_p.P170S|SHBG_uc010cmq.2_Missense_Mutation_p.P116S|SHBG_uc010cmr.2_Missense_Mutation_p.P116S|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.P170S|SHBG_uc010cmz.2_Missense_Mutation_p.P170S|SHBG_uc010cmv.2_Missense_Mutation_p.P116S|SHBG_uc010cmw.2_Missense_Mutation_p.P116S|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.P170S|SHBG_uc002gid.3_Missense_Mutation_p.P170S|SHBG_uc010cnd.2_Missense_Mutation_p.P174S|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.P210S|SHBG_uc010vuf.1_Missense_Mutation_p.P228S|SHBG_uc010cnb.2_Missense_Mutation_p.P228S|SHBG_uc010cnc.2_Missense_Mutation_p.P174S	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	228	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GATATTTCTCCCTCCAGGGAC	0.557000														185			34		0	0	0.00111076	0	0
PGBD5	79605	broad.mit.edu	37	1	230468618	230468618	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:230468618C>T	uc010pwb.2	-	4	1062	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	346						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCGTTGGTCAGGAAGCGGA	0.632000														66			17		0	0	0.000958276	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432079	6432079	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6432079C>T	uc010dus.3	-	1	430	c.344G>A	c.(343-345)aGa>aAa	p.R115K	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	115					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CACCTTGGCTCTGTCCAGAGG	0.607000														45			23		0	0	0.000586117	0	0
ADAM2	2515	broad.mit.edu	37	8	39627009	39627009	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:39627009G>A	uc003xnj.3	-	11	1189	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	ADAM2_uc003xnk.3_Missense_Mutation_p.H353Y|ADAM2_uc011lck.2_Missense_Mutation_p.H372Y|ADAM2_uc003xnl.3_Missense_Mutation_p.H246Y	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	372	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGCTGATTGTGAAGACACTGG	0.433000														24			13		0	0	0.000219431	0	0
SCN4A	6329	broad.mit.edu	37	17	62045702	62045702	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:62045702G>A	uc002jds.1	-	5	794	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	239					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCCCACGATCGTCTTCA	0.602000														53			27		0	0	0.00127121	0	0
GIT2	9815	broad.mit.edu	37	12	110377017	110377017	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:110377017C>A	uc001tps.2	-	16	1932	c.1767G>T	c.(1765-1767)gaG>gaT	p.E589D	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.E559D|GIT2_uc001tpv.2_Missense_Mutation_p.E511D|GIT2_uc001tpu.2_Missense_Mutation_p.E509D|GIT2_uc001tpt.2_Missense_Mutation_p.E461D|GIT2_uc010sxu.1_Missense_Mutation_p.E497D	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	589					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	p.E589E(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CGTAGTCACTCTCAGGTGTGC	0.567000														161			31		3.90053e-15	2.3413e-14	0.000409698	1	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:171178045C>T	uc001ghk.1	+	8	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	FMO2_uc010pmd.1_Missense_Mutation_p.P237S	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	457					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000														55			38		0	0	0.000589545	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	144444	144444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrGL000209.1:144444C>T	uc002quo.2	+	5	818	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	KIR2DL2_uc021vdc.1_Missense_Mutation_p.R267C|KIR2DL2_uc021vdd.1_Missense_Mutation_p.R267C|KIR2DL2_uc010evk.1_Missense_Mutation_p.R167C|KIR2DL2_uc010evl.1_Missense_Mutation_p.R69C|KIR2DL2_uc002qun.2_Missense_Mutation_p.R250C	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	266					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCCTTCATCGCTGGTGCTC	0.522000														18			21		0	0	0.000692331	0	0
SOS2	6655	broad.mit.edu	37	14	50655284	50655284	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:50655284C>T	uc001wxs.4	-	4	743	c.645G>A	c.(643-645)cgG>cgA	p.R215R	SOS2_uc010tql.2_Silent_p.R215R	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	215	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTTAATTCCCGTAGATACT	0.353000														31			17		0	0	0.00074312	0	0
CPA4	51200	broad.mit.edu	37	7	129950821	129950821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:129950821G>A	uc003vpr.3	+	8	1035	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CPA4_uc011kpd.2_Missense_Mutation_p.E297K|CPA4_uc011kpe.2_Missense_Mutation_p.E226K	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	330					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATGCCGAGGAACTCGTGAG	0.572000														82			51		0	0	0.000781405	0	0
DET1	55070	broad.mit.edu	37	15	89074362	89074362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:89074362G>A	uc002bmq.2	-	2	797	c.608C>T	c.(607-609)tCc>tTc	p.S203F	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.S192F|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	192						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GATATGGAGGGAATAGTCTTC	0.512000														23			7		0	0	8.12818e-05	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413232	1413232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:1413232C>T	uc010nct.2	+	8	980	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.P220S|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.P220S|CSF2RA_uc004cpo.2_Missense_Mutation_p.P220S|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.P87S|CSF2RA_uc004cpp.2_Missense_Mutation_p.P220S|CSF2RA_uc010ncv.2_Missense_Mutation_p.P220S|CSF2RA_uc004cpr.2_Missense_Mutation_p.P220S	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	220						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGATTCAACCCTCCCAGCAA	0.572000														218			67		0	0	0.000781405	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70945777	70945777	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70945777G>A	uc001jpe.1	+	1	361	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	102					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTTTACAAGAGGAAAGAAA	0.343000														81			63		0	0	0.000781405	0	0
HBG1	3047	broad.mit.edu	37	11	5269630	5269630	+	Missense_Mutation	SNP	C	T	T	rs35849660		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5269630C>T	uc001mai.1	-	2	840	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	HBG1_uc001mah.1_Missense_Mutation_p.V135M	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	135			V -> M (in Jiangsu).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCAGTCACCATCTTCTGC	0.502000														36			32		0	0	0.000409698	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068880	193068880	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:193068880G>A	uc011bsq.2	-	6	717	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	239					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACACACTTAAGACAATGGAGA	0.403000														9			8		0	0	0.000274275	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12980082	12980082	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:12980082G>T	uc001aup.3	+	3	1357	c.1274G>T	c.(1273-1275)tGc>tTc	p.C425F		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	425												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTCTCTGCTGGGGGAGA	0.597000														70			12		2.35188e-11	1.40699e-10	0.00074312	1	0
FAM83B	222584	broad.mit.edu	37	6	54806389	54806389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:54806389G>A	uc003pck.3	+	4	2736	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	874								p.E874K(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGTCCAGTTGAAAGCAAGTT	0.433000														13			5		0	0	8.12818e-05	0	0
OR56B4	196335	broad.mit.edu	37	11	6129417	6129417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:6129417C>T	uc010qzx.2	+	0	409	c.409C>T	c.(409-411)Cag>Tag	p.Q137*		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCCCTCTTCAGTACCCCTC	0.488000														62			14		0	0	0.00185496	0	0
QPCTL	54814	broad.mit.edu	37	19	46201878	46201878	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:46201878C>T	uc010xxr.2	+	3	928	c.707C>T	c.(706-708)tCc>tTc	p.S236F	QPCTL_uc010ekn.3_Missense_Mutation_p.S142F	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	236					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCCAAGGACTCCCTTTACGGT	0.642000														38			18		0	0	0.00121646	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448589	142448589	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142448589C>T	uc011ksl.1	+	1	214	c.183C>T	c.(181-183)atC>atT	p.I61I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Silent_p.I57I					SubName: Full=V_segment translation product; Flags: Fragment;																		TGACACTGATCGCAACTGCAA	0.507000														16			10		0	0	0.000442599	0	0
GRM3	2913	broad.mit.edu	37	7	86468900	86468900	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:86468900C>T	uc003uid.3	+	3	3169	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F562F|GRM3_uc010leh.3_Silent_p.F282F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	690					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTCAGGTTTTCATCTGCCTGG	0.557000														26			7		0	0	0.000157383	0	0
PHTF2	57157	broad.mit.edu	37	7	77558604	77558604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:77558604C>T	uc003ugs.4	+	10	1424	c.1298C>T	c.(1297-1299)cCa>cTa	p.P433L	PHTF2_uc003ugp.3_Missense_Mutation_p.P395L|PHTF2_uc010ldv.3_Missense_Mutation_p.P395L|PHTF2_uc003ugq.4_Missense_Mutation_p.P395L|PHTF2_uc003ugt.4_Missense_Mutation_p.P399L|PHTF2_uc003ugu.4_Missense_Mutation_p.P395L|PHTF2_uc022agp.1_Missense_Mutation_p.P433L|PHTF2_uc003ugv.3_Missense_Mutation_p.P258L|PHTF2_uc010ldw.2_Missense_Mutation_p.P258L	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CAGATTAATCCATGTGTGAAA	0.373000														16			14		0	0	0.000308642	0	0
XPO4	64328	broad.mit.edu	37	13	21436885	21436885	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr13:21436885G>A	uc001unq.4	-	2	324	c.288C>T	c.(286-288)ttC>ttT	p.F96F	XPO4_uc010tcr.1_Silent_p.F22F	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	96					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGTTAAAAGGAATGTTCGCA	0.428000														125			57		0	0	0.000781405	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635849	65635849	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:65635849G>A	uc001ofy.4	-	8	1150	c.891C>T	c.(889-891)gcC>gcT	p.A297A	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	297	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAGGTTTGGGCCTCGGAGC	0.612000														17			15		0	0	0.000219431	0	0
TNN	63923	broad.mit.edu	37	1	175105030	175105031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:175105030_175105031GG>AA	uc001gkl.1	+	15	3493_3494	c.3380_3381GG>AA	c.(3379-3381)agg>aAA	p.R1127K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1127	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAGCGATGGAGGAGCTATGTGG	0.535000														77			16		0	0	6.4e-05	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049560	69049560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:69049560C>T	uc010fdg.3	+	9	1708	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L	ARHGAP25_uc010yql.2_Missense_Mutation_p.P390L|ARHGAP25_uc002sew.3_Missense_Mutation_p.P422L|ARHGAP25_uc002sex.3_Missense_Mutation_p.P423L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGGAAAAGCCAGGAGACTGG	0.498000														85			43		0	0	0.00148497	0	0
UNC45B	146862	broad.mit.edu	37	17	33513330	33513330	+	Silent	SNP	T	C	C			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:33513330T>C	uc002hja.3	+	19	2645	c.2548T>C	c.(2548-2550)Ttg>Ctg	p.L850L	UNC45B_uc002hjb.3_Silent_p.L848L|UNC45B_uc002hjc.3_Silent_p.L848L|UNC45B_uc010cto.3_Silent_p.L769L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	850					cell differentiation|muscle organ development	cytosol	binding	p.W849L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AACCCAGTGGTTGGAGATCCT	0.572000														66			10		0	0	0.000673444	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287191	53287191	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:53287191C>T	uc001cuj.3	+	13	2320	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	ZYG11B_uc010onj.2_Missense_Mutation_p.P630S|ZYG11B_uc009vzh.3_Missense_Mutation_p.P131S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	709							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATACTGATCCCCATGTCCA	0.433000														25			6		0	0	0.00116845	0	0
OR2T33	391195	broad.mit.edu	37	1	248436400	248436400	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248436400G>A	uc010pzi.2	-	0	717	c.717C>T	c.(715-717)tgC>tgT	p.C239C		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTGAAGAGCAGGTGGCAA	0.512000														37			16		0	0	0.00074312	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571567	71571567	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:71571567T>A	uc003pfw.3	-	2	1507	c.851A>T	c.(850-852)gAa>gTa	p.E284V	SMAP1_uc003pfr.3_3'UTR|SMAP1_uc003pfs.3_3'UTR|SMAP1_uc010kao.3_3'UTR|SMAP1_uc010kap.3_3'UTR|B3GAT2_uc003pfv.3_Missense_Mutation_p.E284V			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	284					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V283V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCCAGTTCTTCGACTGTTGT	0.448000														28			15		0	0	0.000566183	0	0
C19orf55	148137	broad.mit.edu	37	19	36255778	36255778	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:36255778C>T	uc021usz.1	+	5	640	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	189										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAACTCATCCCTGCTGGACC	0.627000														16			7		0	0	8.12818e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38802219	38802219	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:38802219C>T	uc003ciq.3	-	6	903	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	301					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTGCCTCGCTTATTTATGT	0.463000														30			17		0	0	0.000566183	0	0
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:56270245C>T	uc003xsf.3	+	1	846	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	272						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383000														16			13		0	0	0.00185496	0	0
RGS22	26166	broad.mit.edu	37	8	101084449	101084449	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:101084449G>A	uc003yjb.1	-	4	544	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.R117C|RGS22_uc011lgz.1_5'Flank|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R21C	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	117					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTCTTCACGACTGAGACAC	0.348000														50			25		0	0	0.000878237	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917681	48917681	+	Nonsense_Mutation	SNP	G	A	A	rs147499684		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48917681G>A	uc002isv.4	+	1	1726	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*	WFIKKN2_uc010dbu.3_Nonsense_Mutation_p.W251*	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	344	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGACCCGCTGGCACTTCGATG	0.627000														52			14		0	0	0.000308642	0	0
KIF14	9928	broad.mit.edu	37	1	200523671	200523671	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:200523671T>A	uc010ppk.1	-	28	4931	c.4492A>T	c.(4492-4494)Aat>Tat	p.N1498Y	KIF14_uc010ppj.1_Missense_Mutation_p.N1007Y	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1498	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGAGCACGATTAACCATCCTC	0.279000														33			21		0	0	0.000375601	0	0
FAT4	79633	broad.mit.edu	37	4	126336743	126336743	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:126336743G>A	uc003ifj.4	+	4	6625	c.6625G>A	c.(6625-6627)Ggt>Agt	p.G2209S	FAT4_uc011cgp.2_Missense_Mutation_p.G507S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2209	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTGTCACAGGTGCCATCAC	0.463000														24			9		0	0	0.000978159	0	0
PLCG2	5336	broad.mit.edu	37	16	81946258	81946258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:81946258C>T	uc002fgt.3	+	18	2169	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	PLCG2_uc010chg.1_Missense_Mutation_p.P664L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	664	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGGATTCCCCGGGACGGG	0.632000														31			13		0	0	0.000219431	0	0
ALOX12	239	broad.mit.edu	37	17	6902045	6902045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:6902045G>A	uc002gdx.4	+	3	484	c.431G>A	c.(430-432)tGg>tAg	p.W144*	LOC100506713_uc021tou.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	144	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGGGCCACCTGGAAGGAAGGG	0.567000														25			7		0	0	0.000157383	0	0
SPINT2	10653	broad.mit.edu	37	19	38774303	38774303	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:38774303G>A	uc002ohr.2	+	1	578	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	SPINT2_uc002ohs.2_Intron	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	48	BPTI/Kunitz inhibitor 1.	Reactive bond (By similarity).			cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGATGCCGGGCCTCCATG	0.557000														127			64		0	0	0.000781405	0	0
COL4A5	1287	broad.mit.edu	37	X	107938101	107938101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:107938101C>T	uc022ccg.1	+	50	4973	c.4771C>T	c.(4771-4773)Cat>Tat	p.H1591Y	COL4A5_uc004enz.1_Missense_Mutation_p.H1585Y	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1585	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGATTCCCCATTGTCCTCA	0.448000									Alport syndrome with Diffuse Leiomyomatosis					18			26		0	0	0.00178596	0	0
MYF6	4618	broad.mit.edu	37	12	81102630	81102631	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:81102630_81102631GT>AA	uc001szf.2	+	2	711_712	c.620_621GT>AA	c.(619-621)agt>aAA	p.S207K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	207					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GGAGGAGCAAGTATTGATTCGT	0.559000														75			52		0	0	6.4e-05	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820676	35820676	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:35820676G>A	uc010ngt.1	+	1	642	c.363G>A	c.(361-363)gtG>gtA	p.V121V	MAGEB16_uc022bus.1_Silent_p.V121V	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	121	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTTTTGGTGAATTTCATGC	0.443000														11			14		0	0	0.00185496	0	0
NOS1AP	9722	broad.mit.edu	37	1	162335313	162335313	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:162335313C>T	uc001gbv.2	+	8	1446	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	NOS1AP_uc001gbw.2_Silent_p.V348V|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Silent_p.V58V	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	353					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCTGCTGGTCAAGCAGGTGC	0.602000														47			5		0	0	8.12818e-05	0	0
NTN4	59277	broad.mit.edu	37	12	96181188	96181188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:96181188C>T	uc001tei.3	-	1	563	c.114G>A	c.(112-114)atG>atA	p.M38I	NTN4_uc009ztf.3_Missense_Mutation_p.M38I|NTN4_uc009ztg.3_Missense_Mutation_p.M1I	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	38	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAATTTCCCATCCGAGGGT	0.507000														60			12		0	0	0.000566183	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015697	130015697	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:130015697G>A	uc009zyl.1	-	2	1350	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	341						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCCCAAATGGAAGGGCTGCT	0.537000														70			17		0	0	0.00074312	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328448	61328448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:61328448C>T	uc002lji.3	-	1	147	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINB3_uc002ljg.3_Missense_Mutation_p.M1I|SERPINB3_uc010dqa.3_Missense_Mutation_p.M1I|SERPINB3_uc010dqb.3_Missense_Mutation_p.M1I|SERPINB3_uc010dqc.2_Missense_Mutation_p.M1I	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	1					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAGTGAATTCATGGTGAACT	0.378000														21			8		0	0	0.000442599	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518305	161518305	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:161518305G>A	uc001gar.3	-	2	517	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCGR3A_uc001gas.3_Silent_p.F110F|FCGR3A_uc001gat.4_Silent_p.F75F|FCGR3A_uc009wuh.3_Silent_p.F74F|FCGR3A_uc009wui.3_Silent_p.F75F	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	75	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGCGTCAATGAAGTAGCTCG	0.552000														258			9		0	0	0.000566183	0	0
INHBA	3624	broad.mit.edu	37	7	41729961	41729961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:41729961C>T	uc003thq.3	-	1	803	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	INHBA_uc003thr.3_Missense_Mutation_p.E190K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	190					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCGGCCTCTTCCCCTGTGTCC	0.567000										TSP Lung(11;0.080)				42			29		0	0	0.001512	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872850	51872850	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:51872850C>T	uc002xwo.3	+	1	3740	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F	TSHZ2_uc021wex.1_Silent_p.F948F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	951					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCTGGGTTTCCAAATGAAGG	0.507000														41			25		0	0	0.000878237	0	0
NYAP1	222950	broad.mit.edu	37	7	100086605	100086605	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:100086605G>T	uc003uvd.1	+	3	1420	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	NYAP1_uc003uve.1_Nonsense_Mutation_p.E203*	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	421	Pro-rich.																GCCCCGGGGGGAGCGGGAGCT	0.756000														7			5		0.000602214	0.00356677	0.000602214	1	0
PMFBP1	83449	broad.mit.edu	37	16	72162589	72162589	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:72162589G>A	uc002fcc.4	-	13	2242	c.2070C>T	c.(2068-2070)acC>acT	p.T690T	PMFBP1_uc002fcd.3_Silent_p.T685T|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Silent_p.T540T|PMFBP1_uc010cgo.1_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	690										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTGCTGGCTGGTGTTGTATT	0.443000														46			16		0	0	0.00074312	0	0
MXRA5	25878	broad.mit.edu	37	X	3229074	3229074	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chrX:3229074G>A	uc004crg.4	-	6	7327	c.7170C>T	c.(7168-7170)acC>acT	p.T2390T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2390	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCAGAGGAGGTGGGGATCA	0.537000														20			46		0	0	0.000509022	0	0
MYH3	4621	broad.mit.edu	37	17	10543718	10543718	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10543718G>A	uc002gmq.2	-	20	2446	c.2358C>T	c.(2356-2358)atC>atT	p.I786I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	786	IQ.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTGTCCGGGTGATTAGTTTGG	0.547000														97			21		0	0	0.00188189	0	0
COL1A1	1277	broad.mit.edu	37	17	48274591	48274591	+	Missense_Mutation	SNP	C	T	T	rs67163050		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:48274591C>T	uc002iqm.3	-	9	826	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	234	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTTCCAGCTTCCCCCTGAGAG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							46			35		0	0	0.00111076	0	0
ABCC8	6833	broad.mit.edu	37	11	17416776	17416776	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:17416776C>A	uc001mnc.3	-	35	4480	c.4354G>T	c.(4354-4356)Gag>Tag	p.E1452*		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1452	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCAGGGCCTCCCACAGTGTG	0.587000														81			50		7.47603e-22	4.50266e-21	0.000781405	1	0
FLNC	2318	broad.mit.edu	37	7	128488671	128488671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:128488671G>A	uc003vnz.4	+	26	4846	c.4637G>A	c.(4636-4638)gGc>gAc	p.G1546D	FLNC_uc003voa.4_Missense_Mutation_p.G1546D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1546					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGCCAGCGGCCCAGGCCTC	0.627000														163			64		0	0	0.000781405	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37470731	37470731	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:37470731G>A	uc003aqt.1	-	11	1422	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	TMPRSS6_uc003aqs.1_Missense_Mutation_p.L463F	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	463					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGAACAGAGGAACTCTCCA	0.622000														23			8		0	0	0.000274275	0	0
FAT2	2196	broad.mit.edu	37	5	150930261	150930261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:150930261C>T	uc003lue.4	-	6	4481	c.4468G>A	c.(4468-4470)Gac>Aac	p.D1490N		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1490	Cadherin 13.				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)			CTTCCTGGGTCTTGGCTGCCA	0.587000														24			15		0	0	0.000219431	0	0
SYCP2	10388	broad.mit.edu	37	20	58490535	58490535	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:58490535T>G	uc002yaz.3	-	7	723	c.584A>C	c.(583-585)gAa>gCa	p.E195A	SYCP2_uc010gju.1_Missense_Mutation_p.E96A	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	195					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AATTAACATTTCTTGGTTAGA	0.269000														70			21		0	0	0.000375601	0	0
C12orf43	64897	broad.mit.edu	37	12	121442045	121442045	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121442045C>A	uc009zxa.1	-	5	816	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	C12orf43_uc001tzh.1_Missense_Mutation_p.G234W|C12orf43_uc010szo.1_Missense_Mutation_p.G193W|C12orf43_uc010szp.1_Missense_Mutation_p.G224W|C12orf43_uc001tzi.1_Missense_Mutation_p.G235W	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	234										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTTTGGTCCCAAGCGACACC	0.572000														896			16		0.000958276	0.00566622	0.000958276	1	0
DSE	29940	broad.mit.edu	37	6	116756873	116756873	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:116756873C>T	uc011ebg.2	+	5	1398	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	DSE_uc003pws.3_Silent_p.F414F|DSE_uc003pwt.3_Silent_p.F414F|DSE_uc003pwu.3_Silent_p.F81F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	414					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.S416fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATAGATCTTTCCTTTCCTTCA	0.418000														20			7		0	0	0.000157383	0	0
PRAM1	84106	broad.mit.edu	37	19	8555575	8555575	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8555575C>T	uc002mkd.3	-	6	1872	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	651							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						GCTTGCCACCCCCGCGACGTG	0.597000														7			4		0	0	0.00024832	0	0
MEP1B	4225	broad.mit.edu	37	18	29793396	29793396	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:29793396G>A	uc002kxj.4	+	10	1500	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	485	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGAGCCAATGATGATCAATT	0.408000														22			7		0	0	0.000157383	0	0
FBN3	84467	broad.mit.edu	37	19	8173110	8173110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:8173110G>A	uc002mjf.3	-	35	4648	c.4631C>T	c.(4630-4632)aCc>aTc	p.T1544I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1544	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGGCACAGGGTTCTGTACTC	0.552000														80			27		0	0	0.00058488	0	0
IGSF10	285313	broad.mit.edu	37	3	151156353	151156353	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:151156353C>T	uc011bod.2	-	5	5996	c.5996G>A	c.(5995-5997)gGa>gAa	p.G1999E	IGSF10_uc011bob.2_Missense_Mutation_p.G26E|IGSF10_uc011boc.2_5'UTR	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1999	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACAGGGATCCATTAGGGTA	0.433000														27			10		0	0	0.000442599	0	0
OR7D4	125958	broad.mit.edu	37	19	9324635	9324635	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:9324635C>T	uc002mla.2	-	0	913	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CATCCTTGTTCCTCAGGCTGT	0.562000														56			25		0	0	0.00178596	0	0
CCBE1	147372	broad.mit.edu	37	18	57105378	57105378	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:57105378C>T	uc002lib.3	-	10	1022	c.952_splice	c.e10-1	p.G318_splice	CCBE1_uc010dpq.3_Splice_Site_p.G47_splice|CCBE1_uc002lia.3_Splice_Site_p.G171_splice	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	318	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCTCTCTCCCCCTAAAAACAG	0.517000														15			9		0	0	0.000274275	0	0
GJA1	2697	broad.mit.edu	37	6	121768150	121768150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:121768150C>T	uc003pyr.3	+	1	407	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Missense_Mutation_p.R53C	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	53					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GTCTGCCTTTCGTTGTAACAC	0.502000														51			11		0	0	0.00136819	0	0
HNF1A	6927	broad.mit.edu	37	12	121426788	121426788	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121426788C>A	uc001tzg.3	+	1	502	c.479C>A	c.(478-480)gCc>gAc	p.A160D	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.A160D|HNF1A_uc001tzf.3_Missense_Mutation_p.A160D|HNF1A_uc010szn.2_Missense_Mutation_p.A160D|HNF1A_uc021rfa.1_Missense_Mutation_p.A160D|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	160					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R159fs*26(2)|p.R159L(1)|p.R159Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAAGCGGGCCGCCCTGTAC	0.627000									Hepatic Adenoma, Familial Clustering of					289			43		6.57855e-14	3.94547e-13	0.000437636	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68702856	68702856	+	Silent	SNP	C	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:68702856C>A	uc001ook.1	+	11	1824	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	IGHMBP2_uc001ool.1_Silent_p.A198A|IGHMBP2_uc001oom.1_Silent_p.A152A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	574					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAAGGAGGCCGTGATACTGT	0.532000														43			20		1.22574e-08	7.32055e-08	0.000295444	1	0
CST11	140880	broad.mit.edu	37	20	23432469	23432469	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:23432469T>A	uc002wtf.1	-	1	351	c.317A>T	c.(316-318)gAa>gTa	p.E106V	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	106					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGCTCCCTTTCCTGGGGGAC	0.488000														64			16		0	0	0.000958276	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:29323094C>T	uc011dlo.2	-	0	961	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000														51			8		0	0	0.000274275	0	0
ZNF777	27153	broad.mit.edu	37	7	149152758	149152758	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:149152758G>A	uc003wfv.3	-	1	519	c.356C>T	c.(355-357)tCc>tTc	p.S119F		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGGAGTGGGAGAGAAGGGA	0.607000														108			51		0	0	0.000781405	0	0
OR52N5	390075	broad.mit.edu	37	11	5799130	5799130	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:5799130C>T	uc010qzn.2	-	0	768	c.735G>A	c.(733-735)aaG>aaA	p.K245K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCTGAAAGCCTTCTGCCGAG	0.463000														20			5		0	0	0.000602214	0	0
LRRC23	10233	broad.mit.edu	37	12	7014749	7014749	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:7014749G>A	uc001qrt.4	+	2	344	c.-48_splice	c.e2-1		LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Splice_Site|LRRC23_uc001qrq.3_Splice_Site|LRRC23_uc001qrs.3_Splice_Site|LRRC23_uc009zfh.3_Splice_Site	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						TCTTTTTCAGGAGGAGGACTG	0.502000														77			14		0	0	0.000219431	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73068123	73068123	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:73068123C>T	uc001otu.3	+	7	3966	c.3945C>T	c.(3943-3945)atC>atT	p.I1315I		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1315					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						CGGACCTCATCGTCTGCACCA	0.617000														24			9		0	0	0.000978159	0	0
FAM221B	392307	broad.mit.edu	37	9	35825665	35825665	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:35825665T>G	uc010mlc.2	-	1	779	c.494A>C	c.(493-495)cAa>cCa	p.Q165P	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.Q165P	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	165										endometrium(2)|kidney(1)|lung(4)	7						TGTGTCCACTTGGACCTGGGA	0.522000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			63		0	0	0.000781405	0	0
EP400	57634	broad.mit.edu	37	12	132514418	132514418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:132514418C>T	uc001ujn.3	+	27	5706	c.5554C>T	c.(5554-5556)Cct>Tct	p.P1852S	EP400_uc021rgq.1_Missense_Mutation_p.P1851S|EP400_uc001ujm.3_Missense_Mutation_p.P1771S|SNORA49_uc001ujo.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1888					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGCAGTTCCCTGAGCTGAG	0.652000														31			5		0	0	0.000602214	0	0
ABCC8	6833	broad.mit.edu	37	11	17414625	17414626	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:17414625_17414626CC>AA	uc001mnc.3	-	38	4784_4785	c.4658_4659GG>TT	c.(4657-4659)cgg>cTT	p.R1553L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1553	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGATGGCACCCCGCTTCAGGAC	0.629000														434			10		0	0	6.4e-05	0	0
MCTP1	79772	broad.mit.edu	37	5	94275877	94275877	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:94275877G>A	uc003kkx.2	-	4	1084	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	MCTP1_uc003kkv.2_Silent_p.L141L|MCTP1_uc003kkw.2_Silent_p.L141L|MCTP1_uc003kkz.2_Silent_p.L23L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	362					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGATCTTTCAGAGTAAGGGTC	0.363000														15			15		0	0	0.000422831	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786808	121786808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:121786808G>A	uc003ksw.1	+	9	2472	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E314K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E390K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E803K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E390K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E352K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E390K|SNCAIP_uc003kta.1_Missense_Mutation_p.E388K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E450K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E696K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E272K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	756					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGAGCAGCGAACCAGACTT	0.577000														21			5		0	0	0.000602214	0	0
TSC2	7249	broad.mit.edu	37	16	2131643	2131643	+	Missense_Mutation	SNP	T	A	A	rs137854389		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:2131643T>A	uc002con.3	+	30	3764	c.3658T>A	c.(3658-3660)Tcc>Acc	p.S1220T	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.S1220T|TSC2_uc002coo.3_Missense_Mutation_p.S1176T|TSC2_uc010uvv.2_Missense_Mutation_p.S1140T|TSC2_uc010uvw.2_Missense_Mutation_p.S1128T|TSC2_uc002cop.3_Missense_Mutation_p.S976T|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1220					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCCCTTTCTCCTCGGACAT	0.617000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					76			45		0	0	0.000680045	0	0
COL3A1	1281	broad.mit.edu	37	2	189850436	189850436	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:189850436G>A	uc002uqj.1	+	3	496	c.379G>A	c.(379-381)Gga>Aga	p.G127R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	127					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTATTCCAGGACAACCAGG	0.443000														9			3		0	0	0.00024832	0	0
MDFIC	29969	broad.mit.edu	37	7	114619726	114619726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:114619726C>T	uc003vhf.3	+	3	973	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	128					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCACCTGTTTCTCAAAAAATG	0.428000														38			22		0	0	0.000375601	0	0
PEG3	5178	broad.mit.edu	37	19	57325466	57325466	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:57325466C>T	uc002qnu.2	-	6	4695	c.4344G>A	c.(4342-4344)ggG>ggA	p.G1448G	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.G1419G|PEG3_uc002qnv.2_Silent_p.G1448G|PEG3_uc002qnw.2_Silent_p.G1324G|PEG3_uc002qnx.2_Silent_p.G1322G|PEG3_uc010etr.2_Silent_p.G1448G	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1448	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATCAGCATCCCCATTTGGCT	0.577000														75			40		0	0	0.00170553	0	0
FCER1A	2205	broad.mit.edu	37	1	159273743	159273743	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:159273743G>A	uc001ftq.3	+	3	199	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	34	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AGGTCTCCTTGAACCCTCCAT	0.353000														20			12		0	0	0.00185496	0	0
FOXA3	3171	broad.mit.edu	37	19	46375805	46375805	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:46375805C>T	uc002pdr.3	+	1	739	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	181					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GTGGCGCGTTCCCCAGACAAG	0.582000														43			18		0	0	0.00152264	0	0
DNASE2	1777	broad.mit.edu	37	19	12991836	12991836	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:12991836C>G	uc002mvn.1	-	1	363	c.217G>C	c.(217-219)Ggg>Cgg	p.G73R	DNASE2_uc010xmr.1_Missense_Mutation_p.G73R	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	73					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCCACGGCCCCCTCCGGGCTG	0.697000														36			11		0	0	0.000673444	0	0
MAB21L3	126868	broad.mit.edu	37	1	116663652	116663652	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:116663652C>T	uc001egc.1	+	2	413	c.148C>T	c.(148-150)Caa>Taa	p.Q50*		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	50										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CATTAGATTTCAAGCTGTGCC	0.483000														118			82		0	0	0.000781405	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976449	43976449	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:43976449C>T	uc003bdy.2	-	24	3437	c.3123G>A	c.(3121-3123)aaG>aaA	p.K1041K	EFCAB6_uc003bdz.2_Silent_p.K889K|EFCAB6_uc010gzi.2_Silent_p.K889K|EFCAB6_uc010gzj.1_Silent_p.K267K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCTTTTTCCTTGGGCTGAG	0.498000														268			54		0	0	0.000781405	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18736667	18736667	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:18736667G>A	uc010exr.3	-	8	1855	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Silent_p.L267L	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCAAATTGAAGAGTGGTTTGA	0.458000														109			53		0	0	0.000781405	0	0
DEFB4A	1673	broad.mit.edu	37	8	7752252	7752252	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:7752252C>T	uc003wsd.3	+	0	54	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_004942	NP_001192195	O15263	DFB4A_HUMAN	Homo sapiens defensin, beta 4A (DEFB4A), mRNA.	6					G-protein coupled receptor protein signaling pathway|chemotaxis|defense response to bacterium|immune response	extracellular region				lung(1)	1						TCTTGTATCTCCTCTTCTCGT	0.527000														107			19		0	0	0.000878237	0	0
SAMHD1	25939	broad.mit.edu	37	20	35545197	35545197	+	Silent	SNP	A	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:35545197A>G	uc002xgh.2	-	8	1190	c.990T>C	c.(988-990)gaT>gaC	p.D330D		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	330					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGCGCTTGTAATCAAAATTAT	0.383000														158			111		0	0	0.000781405	0	0
C12orf43	64897	broad.mit.edu	37	12	121442062	121442063	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:121442062_121442063CC>AA	uc009zxa.1	-	5	798_799	c.775_776GG>TT	c.(775-777)ggg>TTg	p.G259L	C12orf43_uc001tzh.1_Missense_Mutation_p.G228L|C12orf43_uc010szo.1_Missense_Mutation_p.G187L|C12orf43_uc010szp.1_Missense_Mutation_p.G218L|C12orf43_uc001tzi.1_Missense_Mutation_p.G229L	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	228										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCTGGTCCCCGTTGAGCTCA	0.559000														892			13		0	0	6.4e-05	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139264	178139264	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:178139264G>A	uc003mjj.3	-	4	1813	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	539					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		CTTCGATGCTGAATAAGAGCT	0.368000														87			16		0	0	0.000566183	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121684490	121684490	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:121684490C>T	uc003vjy.3	+	22	6347	c.5952C>T	c.(5950-5952)ttC>ttT	p.F1984F	PTPRZ1_uc011knt.2_Silent_p.F1124F|PTPRZ1_uc003vjz.3_Silent_p.F1117F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1984	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATATGTCTTCATTCATGATA	0.393000														52			23		0	0	0.00047179	0	0
ASXL2	55252	broad.mit.edu	37	2	25973192	25973192	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:25973192G>A	uc002rgs.2	-	10	1454	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ASXL2_uc002rgt.1_Silent_p.S151S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGGCATGGATTTTGGTT	0.443000														171			72		0	0	0.000781405	0	0
NCOA1	8648	broad.mit.edu	37	2	24929663	24929663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:24929663G>A	uc002rfk.3	+	10	1583	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	NCOA1_uc010eye.3_Missense_Mutation_p.G442R|NCOA1_uc002rfi.3_Missense_Mutation_p.G291R|NCOA1_uc002rfj.3_Missense_Mutation_p.G442R|NCOA1_uc002rfl.3_Missense_Mutation_p.G442R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	442	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGTTTCGGATGCTCACC	0.463000			T	PAX3	alveolar rhadomyosarcoma									70			33		0	0	0.000953801	0	0
SPTB	6710	broad.mit.edu	37	14	65253286	65253286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:65253286C>T	uc001xht.3	-	14	3448	c.3397G>A	c.(3397-3399)Gac>Aac	p.D1133N	SPTB_uc001xhr.3_Missense_Mutation_p.D1133N|SPTB_uc001xhs.3_Missense_Mutation_p.D1133N|SPTB_uc001xhu.3_Missense_Mutation_p.D1133N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1133					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TACTCTGGGTCCGTCTGGCCT	0.602000														30			4		0	0	0.00024832	0	0
RELB	5971	broad.mit.edu	37	19	45528871	45528871	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:45528871C>T	uc021uvq.1	+	6	893	c.762C>T	c.(760-762)tcC>tcT	p.S254S	RELB_uc021uvp.1_Silent_p.S251S	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	254	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGCTGGGTCCCTGAAGAACC	0.607000														169			80		0	0	0.000781405	0	0
HAO2	51179	broad.mit.edu	37	1	119927541	119927541	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:119927541C>T	uc001ehr.1	+	3	558	c.426C>T	c.(424-426)atC>atT	p.I142I	HAO2_uc001ehq.1_Silent_p.I142I	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	142	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AACAGTTGATCCAGAGGGTAG	0.483000														17			13		0	0	0.000308642	0	0
NOX5	79400	broad.mit.edu	37	15	69320683	69320683	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:69320683C>T	uc002ars.2	+	2	344	c.303C>T	c.(301-303)ctC>ctT	p.L101L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L83L|NOX5_uc002arp.2_Silent_p.L83L|NOX5_uc010bid.2_Silent_p.L94L|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.L101L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	101	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCAAATTCCTCTTCCAGGTGT	0.557000														86			23		0	0	0.000295444	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406162	105406163	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:105406162_105406163CC>AA	uc010axc.1	-	6	15745_15746	c.15625_15626GG>TT	c.(15625-15627)ggg>TTg	p.G5209L	AHNAK2_uc021sen.1_Missense_Mutation_p.G606L|AHNAK2_uc021seo.1_Missense_Mutation_p.G207L|AHNAK2_uc001ypx.2_Missense_Mutation_p.G5109L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5209						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)			CTTTCCAGCCCCGCCTCTGTCC	0.559000														323			8		0	0	6.4e-05	0	0
SAMM50	25813	broad.mit.edu	37	22	44386179	44386179	+	Silent	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr22:44386179T>G	uc003bej.3	+	13	1454	c.1257T>G	c.(1255-1257)gcT>gcG	p.A419A	SAMM50_uc011aqd.2_Silent_p.A209A|SAMM50_uc003bek.3_Silent_p.A224A	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	419					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTAAGCTGGCTGAGTGCATCC	0.572000														49			12		0	0	0.00136819	0	0
SPINK6	404203	broad.mit.edu	37	5	147593499	147593499	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:147593499C>T	uc003lpa.3	+	2	411	c.108C>T	c.(106-108)ccC>ccT	p.P36P	SPINK6_uc021yff.1_Silent_p.P36P	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	36	Kazal-like.		P -> T (in dbSNP:rs12186491).			extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCCCAAGGTCTACT	0.458000														40			13		0	0	0.000308642	0	0
DAGLA	747	broad.mit.edu	37	11	61505224	61505224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:61505224C>T	uc001nsa.3	+	14	1696	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	527					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.V526I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GACCTCGTCCCCAGGTGAGTC	0.617000														36			13		0	0	0.000308642	0	0
ABTB2	25841	broad.mit.edu	37	11	34181501	34181501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:34181501C>T	uc001mvl.2	-	12	2983	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	667							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AAACAGCTTTCCTTCCACCAG	0.502000														42			24		0	0	0.00106085	0	0
OR14I1	401994	broad.mit.edu	37	1	248844962	248844962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:248844962G>A	uc001ieu.1	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I214T(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGGAAATAGGAGATCATCAT	0.493000														42			31		0	0	0.000814825	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967242	41967242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:41967242G>A	uc010skn.2	+	9	2669	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	PDZRN4_uc001rmq.4_Missense_Mutation_p.M629I|PDZRN4_uc009zjz.3_Missense_Mutation_p.M627I|PDZRN4_uc001rmr.3_Missense_Mutation_p.M514I	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	887							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)				AGCCCAAGATGGAATGGAAGG	0.488000														33			34		0	0	0.00058488	0	0
COL9A1	1297	broad.mit.edu	37	6	70944502	70944503	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:70944502_70944503GG>AC	uc003pfg.4	-	33	2412_2413	c.2253_2254CC>GT	c.(2251-2256)ggccct>ggGTct	p.P752S	COL9A1_uc003pfe.4_Missense_Mutation_p.P301S|COL9A1_uc003pff.4_Missense_Mutation_p.P509S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	752	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCACCGGAGGGCCCTGGACAC	0.619000														17			4		0	0	6.4e-05	0	0
DOK2	9046	broad.mit.edu	37	8	21768240	21768240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:21768240C>T	uc003wzx.1	-	3	655	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	DOK2_uc003wzy.1_Missense_Mutation_p.G188R|DOK2_uc003wzz.1_Missense_Mutation_p.G34R|DOK2_uc010lth.1_Missense_Mutation_p.G34R	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	188	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G188*(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCTGGGTCCCTGGCTCGGGC	0.632000														26			18		0	0	0.00152264	0	0
MIA2	117153	broad.mit.edu	37	14	39716233	39716233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:39716233C>T	uc001wux.3	+	3	649	c.455C>T	c.(454-456)tCt>tTt	p.S152F	MIA2_uc010amy.2_Missense_Mutation_p.S83F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	152						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAAAAATCTAGTATATAT	0.313000														20			10		0	0	0.00136819	0	0
ANK3	288	broad.mit.edu	37	10	61959950	61959950	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:61959950G>A	uc001jky.3	-	12	1766	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	ANK3_uc010qih.2_Silent_p.S459S|ANK3_uc001jkz.4_Silent_p.S470S|ANK3_uc001jlb.1_Silent_p.S5S|ANK3_uc001jlc.1_Silent_p.S137S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	476					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S476S(2)|p.R475C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGCTTGGCCGGAGCGAGCTG	0.468000														20			27		0	0	0.000491102	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76619605	76619605	+	RNA	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:76619605C>T	uc011kgn.1	+	1		c.459C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCCAGCGGTCCCTCAAGCAG	0.627000														31			10		0	0	0.000219431	0	0
SGK1	6446	broad.mit.edu	37	6	134494411	134494412	+	Splice_Site	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:134494411_134494412CC>TT	uc003qen.4	-	5	506	c.417_splice	c.e5+1	p.E139_splice	SGK1_uc003qeo.4_Splice_Site_p.E234_splice|SGK1_uc011ect.2_Splice_Site_p.E129_splice|SGK1_uc011ecu.2_Splice_Site_p.E139_splice|SGK1_uc011ecv.2_Splice_Site_p.E153_splice|SGK1_uc011ecw.2_Splice_Site_p.E167_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	139	Glu/Lys-rich.|Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACATCTCATACCTCTTTCTTTT	0.396000														50			11		0	0	6.4e-05	0	0
HSH2D	84941	broad.mit.edu	37	19	16268126	16268126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:16268126C>T	uc002ndp.4	+	7	1112	c.581C>T	c.(580-582)tCc>tTc	p.S194F	HSH2D_uc002ndr.3_Missense_Mutation_p.S137F|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	194						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCCCCAAAATCCCCTCTTGGA	0.562000														52			22		0	0	0.000295444	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048624	42048624	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr1:42048624G>A	uc001cgz.4	-	3	3058	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S	HIVEP3_uc001cha.4_Silent_p.S615S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	615	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCGAGGGCTTGGAGGCTGTGT	0.527000														69			58		0	0	0.000781405	0	0
TBRG4	9238	broad.mit.edu	37	7	45145054	45145054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:45145054G>A	uc011kcd.2	-	2	803	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	TBRG4_uc003tmu.3_Missense_Mutation_p.R66C|TBRG4_uc003tmv.3_Missense_Mutation_p.R241C|TBRG4_uc003tmw.3_Missense_Mutation_p.R241C|TBRG4_uc003tmx.3_Missense_Mutation_p.R241C|SNORA5A_uc003tmy.3_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	241					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TCTTCCAGGCGGTTCATTAGT	0.557000														84			31		0	0	0.00178596	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113513	117113513	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:117113513G>A	uc003pxj.1	-	5	2595	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	GPRC6A_uc003pxk.1_Missense_Mutation_p.S683F|GPRC6A_uc003pxl.1_Missense_Mutation_p.S787F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	858					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CACACTATGGGAAGAATAACT	0.443000														19			6		0	0	0.00116845	0	0
MYH8	4626	broad.mit.edu	37	17	10304266	10304266	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10304266C>T	uc002gmm.2	-	25	3360	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1089					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			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						TTGCTGATTTCAAATTCTTTC	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					37			6		0	0	0.00116845	0	0
ASTN2	23245	broad.mit.edu	37	9	119976882	119976882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:119976882G>A	uc004bjt.2	-	2	871	c.770C>T	c.(769-771)tCt>tTt	p.S257F	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	257						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAGCACAGATGGGATGTA	0.627000														39			20		0	0	0.000295444	0	0
LIPC	3990	broad.mit.edu	37	15	58855766	58855766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:58855766G>A	uc010bga.2	+	9	1840	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LIPC_uc010bfz.1_Missense_Mutation_p.G411D|LIPC_uc002afa.2_Missense_Mutation_p.G411D|LIPC_uc010bgb.1_Missense_Mutation_p.G309D|LIPC_uc010ugy.2_Missense_Mutation_p.G350D	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	411	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.I410I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTGGATATCGGCGAGCTGATC	0.473000														39			14		0	0	0.000422831	0	0
CSMD3	114788	broad.mit.edu	37	8	113347699	113347699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr8:113347699C>T	uc003ynu.3	-	44	7183	c.7024G>A	c.(7024-7026)Gga>Aga	p.G2342R	CSMD3_uc003yns.3_Missense_Mutation_p.G1544R|CSMD3_uc003ynt.3_Missense_Mutation_p.G2302R|CSMD3_uc011lhx.2_Missense_Mutation_p.G2238R|CSMD3_uc003ynw.1_Missense_Mutation_p.G53R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2342	CUB 13.					integral to membrane|plasma membrane		p.G2342I(2)|p.G2302I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCTGGTCCATCCCTATGA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				15			10		0	0	0.000978159	0	0
MYO3A	53904	broad.mit.edu	37	10	26463297	26463297	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:26463297G>A	uc001isn.2	+	29	4464	c.4104G>A	c.(4102-4104)aaG>aaA	p.K1368K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1368	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGTTGAGGAAGGACAAGATGT	0.433000														34			10		0	0	0.000442599	0	0
SI	6476	broad.mit.edu	37	3	164737392	164737392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:164737392C>T	uc003fei.3	-	27	3484	c.3421G>A	c.(3421-3423)Ggt>Agt	p.G1141S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1141	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTACCTACACCAGGGGGTTGG	0.433000										HNSCC(35;0.089)				10			7		0	0	0.000157383	0	0
KRT12	3859	broad.mit.edu	37	17	39021199	39021199	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:39021199C>T	uc002hvk.2	-	2	690	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	222	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGCGCAGGGCCAGTTCATTCT	0.547000														54			37		0	0	0.00111076	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172875	67172875	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:67172875G>A	uc001ola.3	+	3	287	c.258G>A	c.(256-258)aaG>aaA	p.K86K	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Silent_p.K86K|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	86						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACAGGTAAAGATGCAGTGCC	0.647000														26			6		0	0	0.000157383	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659854	74659854	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:74659854C>T	uc002axt.2	-	0	228	c.73G>A	c.(73-75)Gag>Aag	p.E25K	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.E25K	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	25					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCCAGCCCCTCCCTGGGGGCA	0.642000														32			9		0	0	0.000274275	0	0
CASC5	57082	broad.mit.edu	37	15	40943753	40943754	+	Missense_Mutation	DNP	GC	AG	AG			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:40943753_40943754GC>AG	uc010bbs.1	+	20	6536_6537	c.6375_6376GC>AG	c.(6373-6378)gagcta>gaAGta	p.L2126V	CASC5_uc010bbt.1_Missense_Mutation_p.L2100V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2126	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACTGAAGAGCTACTGGATCA	0.361000														22			4		0	0	6.4e-05	0	0
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4852162G>A	uc002mbj.2	-	4	677	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_uc002mbk.2_Missense_Mutation_p.S155F|PLIN3_uc002mbl.3_Missense_Mutation_p.S167F	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	167					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			16		0	0	0.00074312	0	0
DNAH11	8701	broad.mit.edu	37	7	21856288	21856288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:21856288G>A	uc003svc.3	+	64	10588	c.10557G>A	c.(10555-10557)atG>atA	p.M3519I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3519	AAA 5 (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						AGTATGGAATGGACCTGAAAG	0.458000									Kartagener syndrome					13			13		0	0	0.00136819	0	0
NRXN1	9378	broad.mit.edu	37	2	50724557	50724557	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:50724557G>A	uc021vhh.1	-	12	3714	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	NRXN1_uc002rxb.4_Silent_p.F603F|NRXN1_uc021vhg.1_Silent_p.F971F|NRXN1_uc021vhi.1_Silent_p.F967F|NRXN1_uc021vhj.1_Silent_p.F927F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	931	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTGAACTGGAAAAAAAGAT	0.403000														23			17		0	0	0.000422831	0	0
FAM184A	79632	broad.mit.edu	37	6	119327615	119327615	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:119327615C>T	uc003pyj.3	-	6	2160	c.1812G>A	c.(1810-1812)gtG>gtA	p.V604V	FAM184A_uc003pyk.4_Silent_p.V484V|FAM184A_uc003pyl.4_Silent_p.V484V	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	604										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAATTACCTCCACATTTAATA	0.368000														60			7		0	0	0.000274275	0	0
C9orf117	286207	broad.mit.edu	37	9	130475122	130475123	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr9:130475122_130475123GG>AA	uc004brn.1	+	6	1312_1313	c.1272_1273GG>AA	c.(1270-1275)caggag>caAAag	p.E425K	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	425										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTCCCCACCAGGAGTCACAGTC	0.609000														14			6		0	0	6.4e-05	0	0
CDKAL1	54901	broad.mit.edu	37	6	20546687	20546688	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:20546687_20546688CC>AA	uc003ndd.2	+	2	273_274	c.106_107CC>AA	c.(106-108)ccg>AAg	p.P36K	CDKAL1_uc003nde.2_Silent_p.3_4SR>SR|CDKAL1_uc021ymk.1_Missense_Mutation_p.P36K|CDKAL1_uc010jpo.1_Missense_Mutation_p.P36K|CDKAL1_uc003ndb.1_Missense_Mutation_p.P36K	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	36					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.P36Q(2)|p.P36P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGATGTTGTCCCGAAGGTACGA	0.386000														365			12		0	0	6.4e-05	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370477	38370477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:38370477G>A	uc003jlc.2	+	5	971	c.625G>A	c.(625-627)Gat>Aat	p.D209N	EGFLAM_uc003jlb.2_Missense_Mutation_p.D209N	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	209	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCGATCCAGATACCAACTA	0.532000														34			18		0	0	0.000958276	0	0
MYH1	4619	broad.mit.edu	37	17	10400485	10400485	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:10400485C>T	uc002gmo.3	-	32	4651	c.4557G>A	c.(4555-4557)caG>caA	p.Q1519Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1519						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTGCAATCTGTTCAGTGA	0.363000														31			14		0	0	0.000308642	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172150	81172151	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr15:81172150_81172151CC>TT	uc002bfw.1	+	3	595_596	c.335_336CC>TT	c.(334-336)gcc>gTT	p.A112V	KIAA1199_uc010unn.1_Missense_Mutation_p.A112V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	112	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTGGGAGTGCCCTCTGCCCTT	0.515000														42			20		0	0	6.4e-05	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370510	130370510	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:130370510C>T	uc003qbt.3	+	3	362	c.186C>T	c.(184-186)acC>acT	p.T62T	L3MBTL3_uc003qbu.3_Silent_p.T62T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	62					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGCTACCACCACTTGGATGG	0.363000														14			5		0	0	0.000602214	0	0
VWA7	80737	broad.mit.edu	37	6	31744432	31744432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr6:31744432G>A	uc011dog.2	-	1	363	c.125C>T	c.(124-126)tCc>tTc	p.S42F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	42						extracellular region											GTGGGTGATGGAGCCAGGGGC	0.652000														152			131		0	0	0.000781405	0	0
PLIN3	10226	broad.mit.edu	37	19	4839243	4839243	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:4839243G>A	uc002mbj.2	-	7	1443	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	PLIN3_uc002mbk.2_Silent_p.A410A|PLIN3_uc002mbl.3_Silent_p.A421A	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	422					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGATTCCAGGGGCAAAGGGTC	0.622000														91			35		0	0	0.00170553	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519815	3519816	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr4:3519815_3519816GG>AA	uc003ghh.4	-	4	781_782	c.696_697CC>TT	c.(694-699)aaccag>aaTTag	p.Q233*		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	233					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCAGGCCCTGGTTGATGCTGC	0.658000														21			6		0	0	6.4e-05	0	0
R3HDM1	23518	broad.mit.edu	37	2	136433015	136433015	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:136433015C>T	uc002tuo.3	+	18	2531	c.2161C>T	c.(2161-2163)Caa>Taa	p.Q721*	R3HDM1_uc010fni.3_Nonsense_Mutation_p.Q720*|R3HDM1_uc002tup.3_Nonsense_Mutation_p.Q666*|R3HDM1_uc010zbh.2_Nonsense_Mutation_p.Q469*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	721							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)		AAATCAGATTCAAGGAGTGGT	0.433000														40			20		0	0	0.000295444	0	0
PLCB4	5332	broad.mit.edu	37	20	9424641	9424641	+	Silent	SNP	C	T	T	rs144853204		TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr20:9424641C>T	uc021wam.1	+	26	2757	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	PLCB4_uc010gbw.1_Silent_p.I914I|PLCB4_uc010gbx.3_Silent_p.I926I|PLCB4_uc021wal.1_Silent_p.I914I|PLCB4_uc002wnh.3_Silent_p.I761I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	914					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAACTTATCCCTCAAGTAA	0.303000														46			6		0	0	8.12818e-05	0	0
GAST	2520	broad.mit.edu	37	17	39872037	39872037	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:39872037C>T	uc002hxl.3	+	2	286	c.219C>T	c.(217-219)tcC>tcT	p.S73S	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	73						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CAGACCCGTCCAAGAAGCAGG	0.562000														98			14		0	0	0.000422831	0	0
ZNF641	121274	broad.mit.edu	37	12	48738490	48738490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:48738490G>A	uc001rrn.2	-	5	716	c.454C>T	c.(454-456)Cca>Tca	p.P152S	ZNF641_uc001rro.2_Missense_Mutation_p.P138S|ZNF641_uc010sls.2_Missense_Mutation_p.P129S	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	152	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTGGGAATTGGAAATCCTGCT	0.408000														28			38		0	0	0.000509022	0	0
NAA25	80018	broad.mit.edu	37	12	112481007	112481007	+	Silent	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:112481007G>A	uc001ttm.3	-	18	2317	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.F725F|NAA25_uc009zwa.2_Silent_p.F753F	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	753						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGGACCAAGGAAAGGATACT	0.353000														55			15		0	0	0.000308642	0	0
RAB40C	57799	broad.mit.edu	37	16	677501	677501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr16:677501C>T	uc021szt.1	+	6	947	c.725C>T	c.(724-726)tCc>tTc	p.S242F	RAB40C_uc021szu.1_Missense_Mutation_p.S242F|RAB40C_uc021szv.1_Missense_Mutation_p.S242F|RAB40C_uc002chq.3_Missense_Mutation_p.S223F|RAB40C_uc002chr.3_Missense_Mutation_p.S242F|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	242					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CGTTCCTACTCCCTGGCCAGC	0.652000														98			37		0	0	0.00170553	0	0
DNAH5	1767	broad.mit.edu	37	5	13829667	13829667	+	Silent	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:13829667C>T	uc003jfd.2	-	37	6438	c.6396G>A	c.(6394-6396)agG>agA	p.R2132R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2132	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAAAACTTCCTGGCCAAAA	0.448000									Kartagener syndrome					62			9		0	0	0.000274275	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47196606	47196607	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:47196606_47196607GG>TT	uc001ndt.3	-	4	711_712	c.439_440CC>AA	c.(439-441)cca>AAa	p.P147K	ARFGAP2_uc010rha.2_5'Flank|ARFGAP2_uc010rhb.2_Intron|ARFGAP2_uc001ndu.3_Intron|ARFGAP2_uc010rhc.2_Intron|ARFGAP2_uc010rhd.2_Missense_Mutation_p.P147K	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	147	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTCTTCTCTGGGGAGTGATTA	0.480000														393			10		0	0	6.4e-05	0	0
TRPV5	56302	broad.mit.edu	37	7	142606687	142606687	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:142606687C>T	uc003wby.1	-	13	2128	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	622					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGCCCGAATTCGCACCCACAG	0.612000														51			30		0	0	0.00058488	0	0
DCC	1630	broad.mit.edu	37	18	50985607	50985607	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr18:50985607G>A	uc002lfe.2	+	23	4014	c.3398G>A	c.(3397-3399)cGg>cAg	p.R1133Q	DCC_uc010dpf.2_Missense_Mutation_p.R768Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1133					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATAGGAAACGGGCCACCCAC	0.443000														20			7		0	0	0.000157383	0	0
C3	718	broad.mit.edu	37	19	6684808	6684808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:6684808C>T	uc002mfm.3	-	30	4069	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1336					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGGCCTTTTCCTTCAGCTGT	0.537000														123			50		0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117768166	117768166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:117768166C>T	uc001twn.2	-	1	1420	c.709G>A	c.(709-711)Gga>Aga	p.G237R	NOS1_uc001twm.2_Missense_Mutation_p.G237R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	237	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCTGGATTCCCATATCTTTC	0.552000														58			36		0	0	0.000953801	0	0
ZNF813	126017	broad.mit.edu	37	19	53990010	53990010	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr19:53990010T>G	uc002qbu.2	+	2	268	c.140T>G	c.(139-141)cTg>cGg	p.L47R	ZNF813_uc010eqq.1_Non-coding_Transcript	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTGGTCTCCCTGGGTGAGGAT	0.488000														135			23		0	0	0.000509022	0	0
ADCY6	112	broad.mit.edu	37	12	49167748	49167748	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:49167748G>A	uc001rsh.4	-	13	3077	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	ADCY6_uc001rsi.4_Intron|ADCY6_uc001rsj.4_Missense_Mutation_p.T806I|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	806					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTGGGCATGGTGCCCTCACA	0.612000														17			11		0	0	0.00136819	0	0
GPR141	353345	broad.mit.edu	37	7	37780209	37780209	+	Missense_Mutation	SNP	C	T	T	rs150971296	by1000genomes	TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr7:37780209C>T	uc003tfm.1	+	0	214	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	72						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R72H(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGCCATTTCGCTTGACCTA	0.493000														13			9		0	0	0.000274275	0	0
MPO	4353	broad.mit.edu	37	17	56350778	56350778	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr17:56350778C>T	uc002ivu.1	-	8	1795	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	540					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.E540Q(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCTTACCTTCCAGCACGACC	0.607000														62			39		0	0	0.000953801	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084142	29084142	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:29084142C>G	uc002rmm.3	-	2	867	c.835G>C	c.(835-837)Gta>Cta	p.V279L		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	279	S-adenosyl-L-methionine binding.						tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						TCTTTTCGTACCTCAAAACTT	0.318000														42			13		0	0	0.00136819	0	0
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													---	376	---	---	7	---					
CHST13	166012	broad.mit.edu	37	3	126261331	126261331	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr3:126261331delC	uc003eja.3	+	2	981	c.936delC	c.(934-936)agcfs	p.S312fs		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	312					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGGACATCAGCCCCTTCTACC	0.697													---	4	---	---	2	---					
RAPGEF6	51735	broad.mit.edu	37	5	130788794	130788794	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr5:130788794delA	uc003kvn.2	-	20	3359	c.3153delT	c.(3151-3153)gttfs	p.V1051fs	RAPGEF6_uc003kvp.2_Frame_Shift_Del_p.V1101fs|RAPGEF6_uc003kvo.2_Frame_Shift_Del_p.V1056fs|RAPGEF6_uc010jdi.2_Frame_Shift_Del_p.V1051fs|RAPGEF6_uc010jdj.2_Frame_Shift_Del_p.V1051fs|RAPGEF6_uc003kvq.3_Frame_Shift_Del_p.V768fs|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Frame_Shift_Del_p.V1051fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1051	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAGTCATTCGAACAACTTGGC	0.353													---	71	---	---	13	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr10:70156583delT	uc001job.3	-	3	784	c.457delA	c.(457-459)atgfs	p.M153fs	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Intron|RUFY2_uc010qiw.2_Frame_Shift_Del_p.M60fs|RUFY2_uc001jod.1_Frame_Shift_Del_p.M118fs|RUFY2_uc009xpv.1_Frame_Shift_Del_p.M1fs|RUFY2_uc001joe.1_Frame_Shift_Del_p.M118fs	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													---	76	---	---	7	---					
HTR3A	3359	broad.mit.edu	37	11	113857496	113857496	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr11:113857496delC	uc010rxb.2	+	6	1213	c.980delC	c.(979-981)gccfs	p.A327fs	HTR3A_uc010rxa.2_Intron|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GAGAAACCCGCCCCCTCCCAC	0.597													---	66	---	---	45	---					
EEA1	8411	broad.mit.edu	37	12	93213195	93213216	+	Frame_Shift_Del	DEL	AATATTTTCTTTACTCTTCTGT	-	-			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr12:93213195_93213216delAATATTTTCTTTACTCTTCTGT	uc001tck.3	-	13	1861_1882	c.1596_1617delACAGAAGAGTAAAGAAAATATT	c.(1594-1617)ttacagaagagtaaagaaaatattfs	p.L532fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	532	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding	p.I539T(2)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTAGTAATGAAATATTTTCTTTACTCTTCTGTAATAAAGCTT	0.329													---	41	---	---	12	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	7	---	---	5	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-D3-A1Q6-06A-11D-A196-08	TCGA-D3-A1Q6-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fabc319f-0fa7-456f-b706-54c4df7bcbc2	bb924d86-b966-49a7-bba2-a0d97bd905d5	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	45	---	---	7	---