Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CD180	4064	broad.mit.edu	37	5	66492382	66492382	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:66492382C>G	ENST00000256447.4	-	1	245	c.88G>C	c.(88-90)Gag>Cag	p.E30Q		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	30					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGACTCACCTCAATGCACATC	0.458000													16	38					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139206877	139206877	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:139206877C>T	ENST00000423192.1	+	17	2330	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	ECT2L_ENST00000367682.2_Silent_p.V723V|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	723	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTACGCTGTCAGGCTTCATA	0.468000			"""N, Splice, Mis"""		ETP ALL								14	25					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186507	53186507	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:53186507G>A	ENST00000417996.2	-	4	1085	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	KRT3_ENST00000309505.3_Silent_p.T337T	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	337	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CGTCGTAGAGGGTCCTTAAGA	0.478000													29	80					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75157088	75157088	+	RNA	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:75157088C>T	ENST00000418756.1	-	0	365					NR_028059.1															lung(1)	1						AGATCCGCCTCCCTGGGGCTC	0.711000													3	0					0	0	1	0	0
PPP2CB	5516	broad.mit.edu	37	8	30657175	30657175	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:30657175C>T	ENST00000221138.4	-	2	649	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	67					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CTAAAGAGTTCCATAAGATCA	0.388000													24	88					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496622	20496622	+	RNA	SNP	A	A	T	rs2601530	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:20496622A>T	ENST00000555186.1	+	0	675					NR_038836.1																						AAGTGGCCTCATGAAGGGGAA	0.438000													4	42					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005093	150005093	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:150005093G>A	ENST00000543571.1	-	4	1679	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.L378L	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	378					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTGCTGTCAGAGGATATGGA	0.468000													59	29					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122432349	122432349	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:122432349C>T	ENST00000474629.2	+	10	3964	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1233	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGGTGGCTTCTGGAGATATC	0.378000													12	31					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44144079	44144079	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:44144079C>T	ENST00000262419.6	-	6	2142	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	KANSL1_ENST00000575318.1_Missense_Mutation_p.D558N|KANSL1_ENST00000432791.1_Missense_Mutation_p.D558N|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.D558N|KANSL1_ENST00000572904.1_Missense_Mutation_p.D558N	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	558						MLL1 complex	protein binding										GGAATGTGGTCTGCCAAGACA	0.418000													13	16					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1725548	1725548	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:1725548G>A	ENST00000313288.4	+	3	362	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	86						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CACTCAGGATGACACCCTTGG	0.527000													17	26					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992647	42992647	+	Missense_Mutation	SNP	G	G	A	rs60343255		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:42992647G>A	ENST00000253408.5	-	1	273	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	GFAP_ENST00000435360.2_Missense_Mutation_p.R70W|GFAP_ENST00000586793.1_Missense_Mutation_p.R70W|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	70	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATCTCTGCCCGCTCACTGGCC	0.607000													3	37					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124408911	124408911	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:124408911G>A	ENST00000409039.3	+	66	11369	c.11344G>A	c.(11344-11346)Gaa>Aaa	p.E3782K	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3782					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)		TCTTTTATCAGAAATGTTTTC	0.438000													11	4					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981872	201981872	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:201981872G>A	ENST00000359651.3	+	4	3775	c.583G>A	c.(583-585)Gac>Aac	p.D195N	ELF3_ENST00000367284.5_Missense_Mutation_p.D195N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D195N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	195					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TGGCAGCTCTGACGTCTCCAC	0.667000													10	24					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556794	27556794	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:27556794G>A	ENST00000356183.4	-	2	287	c.272C>T	c.(271-273)cCg>cTg	p.P91L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P91L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	91						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAAAGCCACCGGGTCCCTCCT	0.418000													12	47					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987260	161987260	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:161987260T>C	ENST00000294794.3	-	3	899	c.476A>G	c.(475-477)tAt>tGt	p.Y159C	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y159C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	159										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATCCAGGCCATAGAACGCTCC	0.493000													20	50					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43600730	43600730	+	Missense_Mutation	SNP	A	A	G	rs142594802	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:43600730A>G	ENST00000372806.3	+	2	142	c.47A>G	c.(46-48)aAg>aGg	p.K16R	STK4_ENST00000487587.1_3'UTR|STK4_ENST00000372801.1_Missense_Mutation_p.K16R|STK4_ENST00000499879.2_Missense_Mutation_p.K16R|STK4_ENST00000396731.4_Missense_Mutation_p.K16R	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	16					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CAGCTGAAAAAGTTGGATGAA	0.299000													6	126					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346391	50346391	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:50346391G>A	ENST00000338821.5	-	2	459	c.195C>T	c.(193-195)ttC>ttT	p.F65F	ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Silent_p.F50F|ATP9A_ENST00000402822.1_Silent_p.F65F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	65					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F65L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAGGTGAAGAAATTGTACT	0.507000													14	80					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124408399	124408399	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:124408399G>C	ENST00000409039.3	+	65	11267	c.11242G>C	c.(11242-11244)Gat>Cat	p.D3748H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3748					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)		AGAAGAACTAGATTTCTTTTT	0.383000													3	10					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	985535	985535	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:985535G>C	ENST00000448903.2	+	8	1056	c.915G>C	c.(913-915)aaG>aaC	p.K305N	AP2A2_ENST00000332231.5_Missense_Mutation_p.K306N|AP2A2_ENST00000534328.1_Missense_Mutation_p.K305N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	305					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAACGCGAAGAATGCCGTGC	0.582000													23	14					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228474506	228474506	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:228474506G>T	ENST00000570156.2	+	40	10671	c.10597G>T	c.(10597-10599)Gat>Tat	p.D3533Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.D3104Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D223Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3104Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D1951Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D223Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2566					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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				GGAGCTCACAGATGCCACCAT	0.627000													29	15					2.80507e-11	2.99125e-11	1	1	0
MORF4L1	10933	broad.mit.edu	37	15	79178490	79178490	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:79178490G>A	ENST00000331268.5	+	5	484	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	MORF4L1_ENST00000426013.2_Missense_Mutation_p.E55K|MORF4L1_ENST00000379535.4_Missense_Mutation_p.E80K|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.E55K|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558502.1_5'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	94					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						CAGTTGGGATGAATGGGTTCC	0.378000													7	30					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020485	167020485	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:167020485C>A	ENST00000061240.2	+	20	3360	c.2713C>A	c.(2713-2715)Cag>Aag	p.Q905K	TLL1_ENST00000507499.1_Missense_Mutation_p.Q928K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	905	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCACATGCTCAGTTTGGTGA	0.428000													62	71					1.07751e-37	1.18575e-37	1	1	0
ADAT1	23536	broad.mit.edu	37	16	75654168	75654168	+	Silent	SNP	C	C	T	rs143596497		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:75654168C>T	ENST00000307921.3	-	4	379	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	78	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GCTTACCGTTCTTCCTCATTT	0.438000													49	25					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2980818	2980818	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:2980818G>A	ENST00000399667.2	+	4	1096	c.733G>A	c.(733-735)Gag>Aag	p.E245K	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.E244K|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.E245K			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	245	Poly-Glu.					nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGAGGAGGAGGAGGCACCCCG	0.701000													5	7					0	0	1	0	0
SAP18	10284	broad.mit.edu	37	13	21721003	21721003	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:21721003G>C	ENST00000382533.4	+	3	338	c.299G>C	c.(298-300)aGa>aCa	p.R100T	SAP18_ENST00000607003.1_Missense_Mutation_p.R81T	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCAGAAGCTAGAAAGAAGGGC	0.343000													35	25					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148511215	148511215	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:148511215G>C	ENST00000320356.2	-	15	1808	c.1687C>G	c.(1687-1689)Ccg>Gcg	p.P563A	EZH2_ENST00000476773.1_Missense_Mutation_p.P507A|EZH2_ENST00000460911.1_Missense_Mutation_p.P558A|EZH2_ENST00000541220.1_Missense_Mutation_p.P507A|EZH2_ENST00000478654.1_Missense_Mutation_p.P507A|EZH2_ENST00000350995.2_Missense_Mutation_p.P519A|EZH2_ENST00000483967.1_Missense_Mutation_p.P549A	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	558	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CGGCATCCCGGAAAGCGGTTT	0.542000			Mis		DLBCL								17	56					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882414	110882414	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:110882414G>A	ENST00000369784.3	+	1	1287	c.387G>A	c.(385-387)ccG>ccA	p.P129P	RBM15_ENST00000487146.2_Silent_p.P129P|RBM15_ENST00000602849.1_Silent_p.P129P	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	129	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAGCTCCCCGAGCACCAAAA	0.657000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	17					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472321	50472321	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:50472321C>G	ENST00000228468.4	+	6	1340	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V	ASIC1_ENST00000552438.1_Missense_Mutation_p.L353V|ASIC1_ENST00000447966.2_Missense_Mutation_p.L319V	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	319					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GACGCGCTACCTGGTGGAGAA	0.597000													35	41					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639936	74639936	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:74639936G>A	ENST00000253159.8	+	25	4660	c.4462G>A	c.(4462-4464)Ggc>Agc	p.G1488S	ZNF236_ENST00000320610.9_Missense_Mutation_p.G1490S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1488					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCCCCCTCCGGCGGTCCCCA	0.552000													14	67					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129950685	129950685	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:129950685G>A	ENST00000222482.4	+	9	880	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	284					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)					ACGCCAATTCGGAAGTGGAGG	0.493000													29	52					0	0	1	0	0
PNPLA2	57104	broad.mit.edu	37	11	821978	821978	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:821978C>A	ENST00000336615.4	+	4	643	c.441C>A	c.(439-441)ttC>ttA	p.F147L		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	147	Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	p.F147F(1)		breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCGGTTTCATCCCCGTGT	0.632000													11	31					4.36969e-10	4.58865e-10	1	1	0
CLIC3	9022	broad.mit.edu	37	9	139889971	139889971	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:139889971G>A	ENST00000494426.1	-	3	451	c.192C>T	c.(190-192)atC>atT	p.I64I	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	64	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATAGAGCAGGATGGGCAGCT	0.697000													12	37					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873229	44873229	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:44873229C>G	ENST00000395794.2	-	4	434	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CAGCTCCATTCTGGAGGAGGC	0.562000													9	12					0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18684149	18684149	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:18684149C>T	ENST00000442744.2	+	2	97	c.39C>T	c.(37-39)atC>atT	p.I13I	UBA52_ENST00000599595.1_Silent_p.I13I|UBA52_ENST00000430157.2_Silent_p.I13I|UBA52_ENST00000599551.1_Silent_p.I13I|UBA52_ENST00000595158.1_Silent_p.I13I|UBA52_ENST00000596273.1_Silent_p.I13I|UBA52_ENST00000596304.1_Silent_p.I13I|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000597451.1_Silent_p.I13I|UBA52_ENST00000598780.1_Silent_p.I13I|UBA52_ENST00000595683.1_Silent_p.I13I	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	13	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GCAAAACCATCACCCTTGAGG	0.532000													5	24					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55746985	55746985	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:55746985C>G	ENST00000349456.4	+	1	196	c.48C>G	c.(46-48)atC>atG	p.I16M	CCDC104_ENST00000339012.3_Missense_Mutation_p.I16M|CCDC104_ENST00000407816.3_Missense_Mutation_p.I16M|CCDC104_ENST00000406691.3_Missense_Mutation_p.I16M|CCDC104_ENST00000403007.3_Missense_Mutation_p.I16M			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	16										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGAGAGCATCGCGGGGTTCC	0.592000													14	103					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237295	26237295	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:26237295C>T	ENST00000354667.4	-	3	268	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E22K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	34	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAACTTTCTTCTGTGGTTTCA	0.348000			T	ETV1	prostate								5	18					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271928	37271928	+	Splice_Site	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:37271928C>T	ENST00000373091.3	-	14	2108		c.e14-1		GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						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	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			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)	TCTTGGATTTCTGGGCCGTGA	0.597000													7	5					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937739	33937739	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:33937739C>T	ENST00000330120.3	+	1	1249	c.894C>T	c.(892-894)cgC>cgT	p.R298R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	298						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCGACCGCCGCGCGGCGGGGA	0.662000													4	7					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729201	74729201	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:74729201C>G	ENST00000308807.7	-	2	918	c.455G>C	c.(454-456)aGa>aCa	p.R152T	MLKL_ENST00000306247.7_Missense_Mutation_p.R152T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	152							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTTGCCTCTTCTTAGCATCTG	0.502000													16	64					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110301744	110301744	+	Silent	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:110301744T>C	ENST00000356688.4	-	12	1905	c.1590A>G	c.(1588-1590)gaA>gaG	p.E530E	SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397712.2_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GAAAGTACTTTTCCATAAATA	0.303000													8	5					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108624955	108624955	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:108624955C>G	ENST00000264047.2	+	8	1206	c.930C>G	c.(928-930)ccC>ccG	p.P310P	SLC5A7_ENST00000540517.1_Silent_p.P205P|SLC5A7_ENST00000409059.1_Silent_p.P310P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	310					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCAGATCCCAAGACTACAG	0.433000													3	20					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167218047	167218047	+	Silent	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:167218047C>A	ENST00000308378.3	-	14	2174	c.1869G>T	c.(1867-1869)ctG>ctT	p.L623L	WDR49_ENST00000453925.2_Silent_p.L588L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.L448L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	623										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCACTTCAGGCAGCTCTTCCA	0.443000													35	102					9.04072e-19	9.81447e-19	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53574156	53574156	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:53574156T>C	ENST00000025008.5	-	9	1820	c.1297A>G	c.(1297-1299)Att>Gtt	p.I433V	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.I433V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.I433V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	433					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCTGCTTAATATCTAACAGT	0.333000													119	29					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147525680	147525680	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:147525680C>T	ENST00000367481.3	+	1	120	c.12C>T	c.(10-12)ttC>ttT	p.F4F	STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000321680.6_Silent_p.F4F|STXBP5_ENST00000367480.3_Silent_p.F4F|STXBP5_ENST00000546097.1_Silent_p.F4F	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	4					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGAGGAAATTCAACATCAGGA	0.711000													5	10					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19334840	19334840	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:19334840C>T	ENST00000252575.6	+	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GTGTTGTGTTCCACTACCGAT	0.582000													21	41					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704111	33704111	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:33704111G>A	ENST00000336934.5	-	5	819	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	STARD13_ENST00000255486.4_Missense_Mutation_p.P227S|STARD13_ENST00000399365.3_Missense_Mutation_p.P117S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	235					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTCTGGGGGGCTGTGGGAGG	0.602000													4	45					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32836608	32836608	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:32836608C>T	ENST00000380250.3	+	53	8271	c.7775C>T	c.(7774-7776)tCa>tTa	p.S2592L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCTGAGGGTTCAAAGGTGAAG	0.383000													24	41					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107089	121107089	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:121107089G>A	ENST00000295228.3	+	2	909	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	288					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				AGCAGGCACCGCATTCGCAAG	0.642000													35	13					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93629438	93629438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:93629438C>G	ENST00000375754.4	+	7	1020	c.872C>G	c.(871-873)tCa>tGa	p.S291*	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Nonsense_Mutation_p.S291*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	291	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGAATAATCTCAAGAATCAAA	0.468000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								13	28					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50163448	50163448	+	RNA	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:50163448C>G	ENST00000376025.2	-	0	954							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAATCCATTCTTCCATGTCT	0.358000													8	18					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64878921	64878921	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:64878921C>G	ENST00000279281.3	+	10	2303	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TTCTGCAGCTCTACCTGTGGC	0.622000													18	13					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436967	175436967	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:175436967C>G	ENST00000392547.2	-	5	665	c.566G>C	c.(565-567)aGt>aCt	p.S189T	WIPF1_ENST00000392546.2_Missense_Mutation_p.S189T|WIPF1_ENST00000409891.1_Missense_Mutation_p.S189T|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.S189T|WIPF1_ENST00000359761.3_Missense_Mutation_p.S189T|WIPF1_ENST00000272746.5_Missense_Mutation_p.S189T	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	189					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCTTGGAGTACTAGGTACTGG	0.652000													18	43					0	0	1	0	0
DESI2	51029	broad.mit.edu	37	1	244869017	244869017	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:244869017G>A	ENST00000302550.11	+	5	890	c.511G>A	c.(511-513)Gag>Aag	p.E171K	DESI2_ENST00000263831.7_Missense_Mutation_p.E138K	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	171																	GGAGGAAGCAGAGGATGCTGC	0.557000													20	44					0	0	1	0	0
CREM	1390	broad.mit.edu	37	10	35477263	35477263	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:35477263C>G	ENST00000333809.8	+	6	746	c.692C>G	c.(691-693)tCa>tGa	p.S231*	CREM_ENST00000374728.3_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000337656.4_Nonsense_Mutation_p.S182*|CREM_ENST00000342105.3_Nonsense_Mutation_p.S127*|CREM_ENST00000429130.3_Nonsense_Mutation_p.S215*|CREM_ENST00000484283.1_Intron|CREM_ENST00000395887.3_Nonsense_Mutation_p.S152*|CREM_ENST00000463960.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000479070.1_Nonsense_Mutation_p.S182*|CREM_ENST00000374734.3_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000395895.2_Nonsense_Mutation_p.S231*|CREM_ENST00000361599.4_Nonsense_Mutation_p.S152*|CREM_ENST00000345491.3_Nonsense_Mutation_p.S182*|CREM_ENST00000463314.1_Nonsense_Mutation_p.S20*|CREM_ENST00000374721.3_Intron	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	231					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGCACAATCAGCTGATGGC	0.428000													25	25					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843538	24843538	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:24843538C>T	ENST00000259698.4	-	14	1647	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	FAM65B_ENST00000510784.2_Missense_Mutation_p.G475E|FAM65B_ENST00000378023.4_Missense_Mutation_p.G441E|FAM65B_ENST00000538035.1_Missense_Mutation_p.G470E|FAM65B_ENST00000540914.1_Missense_Mutation_p.G441E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	491					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGGCCTTCTCCCAGGGAGTT	0.572000													43	14					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7032165	7032165	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:7032165G>C	ENST00000389658.3	-	16	2267	c.2174C>G	c.(2173-2175)tCt>tGt	p.S725C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	725	Laminin EGF-like 5; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAATAGCCAGAGAGGCACGA	0.458000													6	9					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62122829	62122829	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:62122829C>G	ENST00000433197.3	-	20	2638	c.2543G>C	c.(2542-2544)aGa>aCa	p.R848T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTTTCTATTCTGTCGCTCAC	0.547000													16	32					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139114	140139114	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:140139114C>G	ENST00000344774.4	-	5	781	c.727G>C	c.(727-729)Gac>Cac	p.D243H		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	243										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TCGAATTCGTCCATGGCTTGC	0.587000													4	9					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548071	102548071	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:102548071G>A	ENST00000334701.7	-	12	2824	c.2543C>T	c.(2542-2544)tCa>tTa	p.S848L	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S726L	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	726					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCCATGCGTGATGTGTCGTC	0.408000													27	20					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645898	29645898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:29645898G>C	ENST00000247270.3	-	3	539	c.203C>G	c.(202-204)tCa>tGa	p.S68*	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Nonsense_Mutation_p.S45*|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Nonsense_Mutation_p.S45*	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	45						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTGAATAACTGAATCCCAGGA	0.373000													55	61					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645940	67645940	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:67645940G>A	ENST00000264010.4	+	4	1312	c.868G>A	c.(868-870)Gat>Aat	p.D290N	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	290					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGCCACACTGATGAGAGACC	0.468000													13	49					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144801110	144801110	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:144801110G>A	ENST00000367545.3	+	25	3499	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1167					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCTGTGGAAGAGATGAAGGT	0.507000													16	28					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214568275	214568275	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:214568275G>A	ENST00000366956.5	-	9	1007	c.813C>T	c.(811-813)ctC>ctT	p.L271L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	271	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTTGTTGATGAGCTCCACTA	0.438000													26	108					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5781384	5781384	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:5781384C>G	ENST00000389902.3	-	4	531	c.264G>C	c.(262-264)ctG>ctC	p.L88L	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	56					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCAACCTTTTCAGATCTTGCC	0.368000													30	56					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105801072	105801072	+	Missense_Mutation	SNP	C	C	T	rs140872949		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:105801072C>T	ENST00000353479.5	-	38	2926	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R879Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	879	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGTGGGCCTCGGGGTCCTGG	0.652000													9	52					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889210	31889210	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:31889210G>C	ENST00000253354.1	+	9	1080	c.919G>C	c.(919-921)Gac>Cac	p.D307H	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	307						extracellular space	lipid binding										GGTCCTGTTGGACTCTGTGGT	0.547000													8	46					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97839179	97839179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:97839179C>A	ENST00000370192.3	-	16	2096	c.1996G>T	c.(1996-1998)Gag>Tag	p.E666*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	666	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.E666*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAATTTAACTCCAGGGCATCT	0.428000													10	24					5.50884e-06	5.66153e-06	1	1	0
WDR45B	56270	broad.mit.edu	37	17	80576938	80576938	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:80576938G>C	ENST00000392325.4	-	7	879	c.685C>G	c.(685-687)Caa>Gaa	p.Q229E	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B									p.Q229E(1)									TTGGCTGCTTGAGATCCTCTT	0.463000													13	21					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31790808	31790808	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:31790808C>T	ENST00000543095.2	-	25	4050	c.3866G>A	c.(3865-3867)cGt>cAt	p.R1289H	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1283H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R996H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1283H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1283							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)		GCCAGAAAGACGGAGCTGGTC	0.418000													3	6					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34166271	34166271	+	Silent	SNP	A	A	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:34166271A>C	ENST00000373381.4	-	23	3755	c.3579T>G	c.(3577-3579)gtT>gtG	p.V1193V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.V66V	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1153	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCATCATAAACCTGGACAC	0.517000													11	32					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253341	65253341	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:65253341C>G	ENST00000455586.2	-	2	513	c.387G>C	c.(385-387)aaG>aaC	p.K129N	VSIG4_ENST00000374737.4_Missense_Mutation_p.K129N|VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	129	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCAGTAATCTTATCTCTCA	0.473000													71	4					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14609093	14609093	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:14609093G>C	ENST00000274217.3	+	7	984	c.864G>C	c.(862-864)ctG>ctC	p.L288L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	288										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGAATCACCTGAATTCTGTAG	0.433000													60	82					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113104	40113104	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:40113104G>A	ENST00000373233.3	-	15	2322	c.2145C>T	c.(2143-2145)ctC>ctT	p.L715L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	715					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTTCTTCTCGAGGATGGCAC	0.473000													63	94					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207638	36207638	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:36207638C>T	ENST00000392197.2	+	7	1766	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	ZBTB32_ENST00000262630.3_Missense_Mutation_p.S483F			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	483					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTTGTCCTTCTTCCTCCACC	0.627000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	52					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86144454	86144454	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:86144454C>T	ENST00000431532.2	-	8	1130	c.982G>A	c.(982-984)Gat>Aat	p.D328N	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.D367N	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	367					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATAGTTTTATCATCTGGTACT	0.259000													19	31					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71847761	71847761	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:71847761C>G	ENST00000309395.2	+	6	839	c.638C>G	c.(637-639)tCa>tGa	p.S213*	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Nonsense_Mutation_p.S218*	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	213					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										AAACTCACCTCAAAAGACAGA	0.353000													6	29					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323677	107323677	+	Missense_Mutation	SNP	G	G	C	rs138462416		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:107323677G>C	ENST00000265715.3	+	7	1020	c.796G>C	c.(796-798)Gat>Cat	p.D266H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	266					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAATATTGGTGATACCAATCT	0.403000									Pendred syndrome				19	42					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71835426	71835426	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:71835426G>A	ENST00000373255.4	+	2	276	c.12G>A	c.(10-12)cgG>cgA	p.R4R		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	4	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TGTCGGGCCGGAGTGGGAAGA	0.512000													13	51					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135269722	135269722	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:135269722C>T	ENST00000285968.6	+	8	1211	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	NUP205_ENST00000440390.2_Silent_p.L189L	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	395					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCCATAATCTCATCACAGATT	0.318000													8	12					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607989	68607989	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:68607989G>T	ENST00000234313.7	+	3	512	c.333G>T	c.(331-333)agG>agT	p.R111S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	111					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTTGCCAGGAAATCTACCA	0.463000													29	161					2.61193e-14	2.8039e-14	1	1	0
DACT3	147906	broad.mit.edu	37	19	47151949	47151949	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:47151949G>C	ENST00000391916.2	-	4	1753	c.1680C>G	c.(1678-1680)ttC>ttG	p.F560L	DACT3_ENST00000300875.4_Missense_Mutation_p.F335L	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	560										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		AGGCAGAGCTGAAGGCAGGCG	0.751000													21	21					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2819522	2819522	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:2819522C>G	ENST00000360652.2	-	4	913	c.411G>C	c.(409-411)gtG>gtC	p.V137V	PCED1A_ENST00000356872.3_Silent_p.V86V	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A																		AGTTGATGATCACCAGGTCCG	0.572000													46	66					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920691	153920691	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:153920691C>T	ENST00000368633.1	-	14	2103	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	CRTC2_ENST00000368630.3_Missense_Mutation_p.R339H	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	659					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGCTCCATGCGCAGCTCATC	0.602000													22	57					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354037	17354037	+	RNA	SNP	A	A	G	rs7733712	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:17354037A>G	ENST00000511821.1	+	0	19				FTH1P10_ENST00000401830.3_RNA																							ATATTCCGCCAAGCTAGATTC	0.493000													3	37					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67268295	67268295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:67268295G>A	ENST00000355520.5	-	24	3021	c.2380C>T	c.(2380-2382)Caa>Taa	p.Q794*	OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Q686*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	794					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGTCTGCCTTGAGAACTGTGG	0.448000													16	2					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155234103	155234103	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:155234103C>G	ENST00000424344.3	+	6	756	c.389C>G	c.(388-390)tCt>tGt	p.S130C	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Missense_Mutation_p.S151C			Q01113	IL9R_HUMAN	interleukin 9 receptor	151					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCCGCCCTCTGACTTGCAG	0.552000													8	46					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207271509	207271509	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:207271509G>T	ENST00000243611.5	+	5	812	c.518G>T	c.(517-519)gGc>gTc	p.G173V	C4BPB_ENST00000367078.3_Missense_Mutation_p.G173V|C4BPB_ENST00000367076.3_Missense_Mutation_p.G172V|C4BPB_ENST00000391923.1_Missense_Mutation_p.G173V|C4BPB_ENST00000470767.1_3'UTR	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	173	Sushi 3.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TACTTAGTGGGCGTGCAGGAG	0.463000													45	23					1.19451e-25	1.31152e-25	1	1	0
GOLGA1	2800	broad.mit.edu	37	9	127693679	127693679	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:127693679C>G	ENST00000373555.4	-	4	475	c.142G>C	c.(142-144)Gat>Cat	p.D48H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	48						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CTGCTTCCATCGGAAGCCTGT	0.433000													19	40					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916443	88916443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:88916443C>G	ENST00000277141.6	-	27	4459	c.2035G>C	c.(2035-2037)Gag>Cag	p.E679Q	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E1390Q|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352Q|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154Q			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1390					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGTCCTCTTTGCTTCTT	0.443000													31	37					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37414193	37414193	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:37414193G>A	ENST00000373451.4	+	4	576	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_015050.2	NP_055865.1			cap methyltransferase 1	138																	CTTTGACCAGGAGCTGAACGT	0.517000													63	66					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	64022431	64022431	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:64022431C>T	ENST00000373789.3	-	2	306	c.210G>A	c.(208-210)tcG>tcA	p.S70S	RTKN2_ENST00000395260.3_Silent_p.S70S|RTKN2_ENST00000395265.1_Silent_p.S70S	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	70					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTGTAGCTCCGATGTATAGG	0.358000													15	61					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725009	49725009	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49725009C>T	ENST00000449682.2	-	3	696	c.335G>A	c.(334-336)tGt>tAt	p.C112Y	MST1_ENST00000383728.3_Missense_Mutation_p.C37Y|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000545762.1_Missense_Mutation_p.C98Y	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	98	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAAGAGGTCACAGCGCCCAGA	0.607000													3	15					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43476672	43476672	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:43476672T>G	ENST00000260403.2	+	14	2099	c.1820T>G	c.(1819-1821)tTg>tGg	p.L607W	RP11-473C18.3_ENST00000565685.1_RNA|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	607						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTCTCCCCTTTGCGGACCTGG	0.453000													54	90					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26705415	26705415	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:26705415C>T	ENST00000272371.2	-	14	1564	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	OTOF_ENST00000403946.3_Missense_Mutation_p.E480K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	480	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGACCTGCTCATTCCACAGG	0.587000													27	50					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418899	105418899	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:105418899G>T	ENST00000333244.5	-	7	3008	c.2889C>A	c.(2887-2889)agC>agA	p.S963R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	963						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)			CCACCTCCATGCTGGGCAGAG	0.632000													55	74					1.4374e-25	1.57461e-25	1	1	0
CHD1L	9557	broad.mit.edu	37	1	146758107	146758107	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:146758107C>G	ENST00000369258.4	+	18	2171	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.L436L|CHD1L_ENST00000431239.1_Silent_p.L623L|CHD1L_ENST00000369259.3_Silent_p.L513L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	717	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTACTTCCCTCAAGTACGTTA	0.577000													27	97					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47254498	47254498	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:47254498C>G	ENST00000256996.4	+	4	785	c.590C>G	c.(589-591)tCa>tGa	p.S197*	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Nonsense_Mutation_p.S197*|DDB2_ENST00000378603.3_Nonsense_Mutation_p.S133*	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	197					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTTGCCAGCTCAGACACCATC	0.458000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				30	61					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967909	48967909	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:48967909C>G	ENST00000391884.1	+	2	1662	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L396V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	396						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L396V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGAACTTGCTCTGAGCTGCTG	0.542000													29	43					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740826	76740826	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:76740826C>T	ENST00000393262.3	-	2	1022	c.939G>A	c.(937-939)gtG>gtA	p.V313V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	313					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGGTTGTTTCACACTAGATA	0.348000									Bardet-Biedl syndrome				17	6					0	0	1	0	0
CLPP	8192	broad.mit.edu	37	19	6366307	6366307	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:6366307C>A	ENST00000596605.1	+	3	214	c.145C>A	c.(145-147)Cat>Aat	p.H49N	CLPP_ENST00000596149.1_Silent_p.I111I|CLPP_ENST00000245816.4_Silent_p.I198I			Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	0					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						CAGAGGAGATCATGAAGCTCA	0.552000													6	8					2.7689e-08	2.88876e-08	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021486	5021486	+	Silent	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:5021486C>A	ENST00000382545.3	+	2	2049	c.942C>A	c.(940-942)atC>atA	p.I314I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	314					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTCCAGATCCTGGGCCAGA	0.547000													12	38					0.00136819	0.00137964	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574100	18574100	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:18574100C>A	ENST00000380548.4	+	4	649	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.Q104K	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	104						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCACCATGGCCAGTTTTATGA	0.473000													25	75					5.35356e-11	5.67124e-11	1	1	0
RELN	5649	broad.mit.edu	37	7	103276721	103276721	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:103276721C>T	ENST00000428762.1	-	18	2423	c.2264G>A	c.(2263-2265)cGt>cAt	p.R755H	RELN_ENST00000424685.2_Missense_Mutation_p.R755H|RELN_ENST00000343529.5_Missense_Mutation_p.R755H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	755					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)		AATTAGCTGACGCCGCCCATC	0.428000													15	20					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219883875	219883875	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:219883875G>C	ENST00000341552.5	-	21	3583	c.3500C>G	c.(3499-3501)aCc>aGc	p.T1167S	CCDC108_ENST00000453220.1_Missense_Mutation_p.T1167S|CCDC108_ENST00000441968.1_Missense_Mutation_p.T1167S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1167						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)		CCTTAAAGGGGTGAGGACGGG	0.612000													21	36					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661671	2661671	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:2661671G>A	ENST00000324666.5	+	8	1113	c.762G>A	c.(760-762)agG>agA	p.R254R	FAM193A_ENST00000502458.1_Silent_p.R278R|FAM193A_ENST00000545951.1_Silent_p.R254R|FAM193A_ENST00000382839.3_Silent_p.R254R|FAM193A_ENST00000505311.1_Silent_p.R254R	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	254										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGCTGAGAGGAGCCCGCCCA	0.587000													36	35					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201980326	201980326	+	Nonsense_Mutation	SNP	C	C	A	rs150188692		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:201980326C>A	ENST00000359651.3	+	1	3254	c.62C>A	c.(61-63)tCg>tAg	p.S21*	ELF3_ENST00000367284.5_Nonsense_Mutation_p.S21*|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Nonsense_Mutation_p.S21*			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	21					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATGTACAGCTCGGAGGACTCC	0.557000													20	61					1.01871e-10	1.0768e-10	1	1	0
POSTN	10631	broad.mit.edu	37	13	38164584	38164584	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:38164584C>G	ENST00000379747.4	-	4	483	c.366G>C	c.(364-366)ctG>ctC	p.L122L	POSTN_ENST00000379749.4_Silent_p.L122L|POSTN_ENST00000379742.4_Silent_p.L122L|POSTN_ENST00000379743.4_Silent_p.L122L|POSTN_ENST00000541179.1_Silent_p.L122L|POSTN_ENST00000541481.1_Silent_p.L122L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	122	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCTCCTCCCTCAGTTTTGAGG	0.438000													9	19					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911336	80911336	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:80911336C>T	ENST00000377102.1	-	2	1482	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	SPRY2_ENST00000540649.1_Missense_Mutation_p.E169K|SPRY2_ENST00000377104.3_Missense_Mutation_p.E169K			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	169					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CCCAAATCTTCCTTGCTCAGT	0.552000													17	21					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814906	137814906	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:137814906G>A	ENST00000367734.2	-	1	625	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	134	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		TGAGCATGAGGATGTAGTTTC	0.632000													26	16					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160559	2160559	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:2160559G>A	ENST00000378536.4	+	1	426	c.354G>A	c.(352-354)gaG>gaA	p.E118E		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	118					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGGAGGCGAGAAGCGCCTGT	0.642000													4	7					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21306856	21306856	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:21306856G>A	ENST00000602326.1	-	8	900	c.317C>T	c.(316-318)cCa>cTa	p.P106L	EIF4G3_ENST00000400422.1_Missense_Mutation_p.P99L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P110L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P99L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P106L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P99L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P99L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	99					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCCAGGTCCTGGTCCAGGATA	0.463000													9	9					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633796	116633796	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:116633796T>C	ENST00000260210.4	-	4	532	c.509A>G	c.(508-510)cAt>cGt	p.H170R	BUD13_ENST00000375445.3_Missense_Mutation_p.H170R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	170	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTCTGAGTCATGACGAGCCCC	0.592000													6	99					0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79614491	79614491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:79614491C>T	ENST00000299705.5	+	3	777	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	TMED3_ENST00000558562.1_3'UTR|TMED3_ENST00000536821.1_Intron|TMED3_ENST00000424155.2_Intron	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	197					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CAGCTTCAGTCAGGTGCTACT	0.587000													20	58					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596156	97596156	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:97596156G>A	ENST00000182096.4	+	1	338	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCTGGCATGTGAAAGGTCTGA	0.423000													24	32					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134210137	134210137	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:134210137G>A	ENST00000358387.4	+	1	645	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	7					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGCCGGTCGACGACCGCCC	0.716000													11	16					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160419	49160419	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49160419C>G	ENST00000418109.1	-	28	4455	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E1431Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1431	Domain alpha.				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)		TGCCCATCCTCATCTCGACAG	0.672000													6	8					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1025206	1025206	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:1025206G>C	ENST00000421673.2	-	23	3011	c.2961C>G	c.(2959-2961)ctC>ctG	p.L987L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	987	VWFD 3.				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)		CGATCCTGATGAGGATGGTCA	0.667000													18	53					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761666	150761666	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:150761666C>T	ENST00000485713.1	+	4	1311	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S	SLC4A2_ENST00000413384.2_Missense_Mutation_p.P91S|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P77S|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P82S|SLC4A2_ENST00000310317.5_Intron	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	91	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGCCTCCGGATGCACG	0.687000													17	24					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134893697	134893697	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:134893697G>C	ENST00000354475.4	-	3	388	c.357C>G	c.(355-357)ctC>ctG	p.L119L	WDR91_ENST00000423565.1_Silent_p.L84L|WDR91_ENST00000344400.5_Silent_p.L119L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	119										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCTGGTTCTGGAGTTCCGTGG	0.537000													16	47					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12043741	12043741	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:12043741C>A	ENST00000356352.2	-	5	2061	c.1588G>T	c.(1588-1590)Gac>Tac	p.D530Y	UPF2_ENST00000397053.2_Missense_Mutation_p.D530Y|UPF2_ENST00000357604.5_Missense_Mutation_p.D530Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	530					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTAAGGTGTCATCATTAATT	0.338000													7	25					8.12818e-05	8.30039e-05	1	1	0
C5AR1	728	broad.mit.edu	37	19	47823535	47823535	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:47823535G>A	ENST00000355085.3	+	2	523	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	167					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCCTGCTGCTGACCATACCCT	0.602000													45	62					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678540	131678540	+	Missense_Mutation	SNP	G	G	A	rs146661687		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:131678540G>A	ENST00000259324.5	+	4	2846	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	775					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCTGGGCGAGTGCCCACT	0.662000													10	10					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29063171	29063171	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:29063171C>T	ENST00000334056.5	+	7	875	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SPDYA_ENST00000379579.4_Missense_Mutation_p.S229L|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	229					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)					GTAGATTGTTCACTCTGTGGT	0.443000													22	36					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432241	152432241	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:152432241G>C	ENST00000427231.2	-	107	17183	c.16981C>G	c.(16981-16983)Ctc>Gtc	p.L5661V	NEB_ENST00000409198.1_Missense_Mutation_p.L3960V|NEB_ENST00000603639.1_Missense_Mutation_p.L5661V|NEB_ENST00000397345.3_Missense_Mutation_p.L5661V|NEB_ENST00000172853.10_Missense_Mutation_p.L3960V|NEB_ENST00000604864.1_Missense_Mutation_p.L5661V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5676					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTAGCGAGATTAATTTCT	0.368000													38	110					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154801990	154801990	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:154801990G>C	ENST00000460393.1	+	2	154	c.34G>C	c.(34-36)Gat>Cat	p.D12H	MME_ENST00000382989.3_Missense_Mutation_p.D12H|MME_ENST00000492661.1_Missense_Mutation_p.D12H|MME_ENST00000493237.1_Missense_Mutation_p.D12H|MME_ENST00000360490.2_Missense_Mutation_p.D12H|MME_ENST00000462745.1_Missense_Mutation_p.D12H	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	12					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGATATAACTGATATCAACAC	0.383000													21	72					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115481439	115481439	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:115481439G>C	ENST00000369321.2	+	5	696	c.376G>C	c.(376-378)Gat>Cat	p.D126H	CASP7_ENST00000369318.3_Missense_Mutation_p.D93H|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.D93H|CASP7_ENST00000369331.4_Missense_Mutation_p.D93H|CASP7_ENST00000345633.4_Missense_Mutation_p.D93H|CASP7_ENST00000452490.2_Missense_Mutation_p.D68H	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	93					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AACAGACAAAGATGCCGAGGC	0.507000													44	46					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649642	142649642	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:142649642C>T	ENST00000355265.2	-	10	1631	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	386					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R386I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGAGCTTTCTGCGTGCCTC	0.532000													9	26					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													22	42					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97686026	97686026	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:97686026G>A	ENST00000333396.7	-	2	994	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	MINA_ENST00000330299.2_Missense_Mutation_p.H138Y|MINA_ENST00000394198.2_Missense_Mutation_p.H138Y|MINA_ENST00000360258.4_Missense_Mutation_p.H138Y	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TGAGGTTGGTGAAACTGAATC	0.383000													83	112					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97009162	97009162	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:97009162G>C	ENST00000216277.8	+	14	1441	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.K407N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	407					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GCTTGGAGAAGAATGAATTTA	0.378000													27	61					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57217571	57217571	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:57217571C>A	ENST00000205214.6	-	10	1809	c.1629G>T	c.(1627-1629)ttG>ttT	p.L543F	AASDH_ENST00000513376.1_Missense_Mutation_p.L443F|AASDH_ENST00000451613.1_Missense_Mutation_p.L543F|AASDH_ENST00000502617.1_Missense_Mutation_p.L543F|AASDH_ENST00000602986.1_Missense_Mutation_p.L390F|AASDH_ENST00000434343.2_Missense_Mutation_p.L58F	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	543					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCTCAGACTTCAAGTTTATGT	0.239000													20	25					5.35356e-11	5.67124e-11	1	1	0
NMT1	4836	broad.mit.edu	37	17	43180358	43180358	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:43180358G>C	ENST00000592782.1	+	10	1164	c.1033G>C	c.(1033-1035)Gac>Cac	p.D345H	NMT1_ENST00000258960.2_Missense_Mutation_p.D345H			P30419	NMT1_HUMAN	N-myristoyltransferase 1	345					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GGAAACAAAGGACATTCCAGT	0.542000													24	30					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39917902	39917902	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:39917902G>C	ENST00000564288.1	+	86	21270	c.20493G>C	c.(20491-20493)gaG>gaC	p.E6831D	MACF1_ENST00000372915.3_Missense_Mutation_p.E6730D|MACF1_ENST00000361689.2_Missense_Mutation_p.E4772D|MACF1_ENST00000567887.1_Missense_Mutation_p.E6868D|MACF1_ENST00000539005.1_Missense_Mutation_p.E4642D|MACF1_ENST00000317713.7_Missense_Mutation_p.E4772D|MACF1_ENST00000545844.1_Missense_Mutation_p.E4772D|MACF1_ENST00000289893.4_Missense_Mutation_p.E5274D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6838					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTGATTGAGAATAGTCGAG	0.488000													56	44					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37948717	37948717	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:37948717C>T	ENST00000377707.3	-	5	1826	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	421	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGCAGGTTCTCGGCGTCTCCT	0.612000													16	23					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58050023	58050023	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:58050023C>T	ENST00000376233.3	+	4	1832	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H538Y|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAAAGTTCACACTGGCGA	0.463000													28	41					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031024	32031024	+	Silent	SNP	C	C	T	rs4449357	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:32031024C>T	ENST00000360311.4	+	2	1002	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ACAAGCCTATCAAAGATCAGC	0.398000													4	79					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461677	106461677	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:106461677T>C	ENST00000261402.2	-	7	2268	c.889A>G	c.(889-891)Att>Gtt	p.I297V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	297	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ATGTCCTCAATAGTGGCCCGG	0.557000													12	31					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753620	13753620	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:13753620C>T	ENST00000265104.4	-	63	10698	c.10594G>A	c.(10594-10596)Ggt>Agt	p.G3532S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3532					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)					TTAAATGGACCAGAATAAGAT	0.378000									Kartagener syndrome				42	46					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819163	42819163	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:42819163G>C	ENST00000598766.1	+	6	511	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	TMEM145_ENST00000301204.3_Missense_Mutation_p.E147Q			Q8NBT3	TM145_HUMAN	transmembrane protein 145	147						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ATTGCAGCTGGAGTATGAGAT	0.587000													9	24					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812133	133812133	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:133812133G>C	ENST00000285928.2	+	1	82	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	5							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGACCTCCGAGAGGGCTCT	0.612000													23	61					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156801	33156801	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:33156801G>A	ENST00000341947.2	-	3	624	c.397C>T	c.(397-399)Cct>Tct	p.P133S	COL11A2_ENST00000395197.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P133S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P133S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P133S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P133S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	133	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGAGAGGGAGGTTGAGGCCGC	0.607000													56	31					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371385	48371385	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:48371385C>T	ENST00000395702.2	+	2	1080	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	ZNF488_ENST00000586537.1_Missense_Mutation_p.R178C|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGTCCTTTCGCCTAACGTC	0.592000													14	49					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301254	140301254	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:140301254G>A	ENST00000275884.6	-	2	1361	c.944C>T	c.(943-945)tCt>tTt	p.S315F	DENND2A_ENST00000537639.1_Missense_Mutation_p.S315F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S315F|DENND2A_ENST00000492720.1_Missense_Mutation_p.S315F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	315										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTGTTCACagaggaaggtgg	0.592000													25	10					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021505	130021505	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:130021505C>T	ENST00000011292.3	+	3	332	c.182C>T	c.(181-183)tCc>tTc	p.S61F	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	61					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S61F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CACCCTGGCTCCCCCATCGAC	0.667000													8	25					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442528	25442528	+	RNA	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:25442528G>C	ENST00000424208.1	+	0	1504				SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CACCCCTCCAGATGCTGACCC	0.602000													6	8					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228564	174228564	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:174228564G>C	ENST00000306721.3	+	5	743	c.640G>C	c.(640-642)Gaa>Caa	p.E214Q	CDCA7_ENST00000410019.3_Missense_Mutation_p.E93Q|CDCA7_ENST00000347703.3_Missense_Mutation_p.E135Q|CDCA7_ENST00000392567.2_Missense_Mutation_p.E135Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.E170Q	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	135					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ACTCATGTCTGAATTAGAAAG	0.413000													67	49					0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67546914	67546914	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:67546914C>T	ENST00000261880.5	-	1	160	c.56G>A	c.(55-57)gGa>gAa	p.G19E	AAGAB_ENST00000542650.1_Intron|AAGAB_ENST00000561452.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	19					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAGCTGGTCTCCTGAGAAGAC	0.672000													3	5					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106959853	106959853	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:106959853G>T	ENST00000369701.3	+	15	2333	c.2106G>T	c.(2104-2106)caG>caT	p.Q702H	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	702						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACTATCAGACCTGGCACC	0.527000													39	50					7.04047e-22	7.67762e-22	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31600583	31600583	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:31600583G>A	ENST00000389082.5	-	6	2014	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S	DENND5B_ENST00000306833.6_Missense_Mutation_p.P619S|DENND5B_ENST00000354285.4_Missense_Mutation_p.P606S|DENND5B_ENST00000536562.1_Missense_Mutation_p.P619S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	584						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGAAGCAAAGGATCTTTCTCT	0.413000													5	12					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430419	49430419	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:49430419G>A	ENST00000299191.3	+	4	597	c.480G>A	c.(478-480)atG>atA	p.M160I		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	160										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TAGATCCCATGTTACAGGAGG	0.493000													36	16					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295270	10295270	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:10295270G>A	ENST00000403437.2	-	39	5687	c.5593C>T	c.(5593-5595)Ctc>Ttc	p.L1865F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1865					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						TGCAGCCTGAGAACATTCTTG	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				40	44					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256451	47256451	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:47256451C>T	ENST00000256996.4	+	6	1041	c.846C>T	c.(844-846)ctC>ctT	p.L282L	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Silent_p.L218L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	282					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCAGCTTCCTCTACTCGCTGC	0.567000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	16					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21658811	21658811	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:21658811A>T	ENST00000328843.6	+	24	4394	c.4363A>T	c.(4363-4365)Aag>Tag	p.K1455*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.K1450*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1455	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTGTGGACAAGGCGGTGAA	0.448000									Kartagener syndrome				4	10					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188247951	188247951	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:188247951G>C	ENST00000409998.1	-	6	914	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	CALCRL_ENST00000410068.1_Missense_Mutation_p.Q45E|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q45E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	45						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CATTCATATTGAGCTGTCATG	0.338000													38	20					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515938	51515938	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:51515938C>G	ENST00000328188.1	+	1	657	c.657C>G	c.(655-657)atC>atG	p.I219M		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGTGGTCATCTTGTGCTCCC	0.507000													16	42					0	0	1	0	0
TFF3	7033	broad.mit.edu	37	21	43735421	43735421	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr21:43735421C>T	ENST00000518498.1	-	1	340	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TFF3_ENST00000291525.10_Missense_Mutation_p.E72K			Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	22	P-type.				defense response|digestion	apical lamina of hyaline layer				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACGTACTCCTCAGCAGAGCTG	0.642000													5	12					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20582440	20582440	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:20582440G>A	ENST00000202677.7	-	16	2096	c.2089C>T	c.(2089-2091)Ctc>Ttc	p.L697F	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGCCAGCTGAGAGAAAAGGAC	0.473000													20	16					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88260490	88260490	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:88260490C>A	ENST00000298767.5	-	3	982	c.510G>T	c.(508-510)gaG>gaT	p.E170D		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	170	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAAAATTCTCCACTTTAT	0.294000													12	31					1.08611e-07	1.12824e-07	1	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													34	3					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78326677	78326677	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:78326677G>C	ENST00000255189.3	-	10	1690	c.1662C>G	c.(1660-1662)ctC>ctG	p.L554L	DMGDH_ENST00000380311.4_Silent_p.L353L|DMGDH_ENST00000540686.1_Silent_p.L174L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	554					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.L554L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATTTGCAAAGAGATGGTCCA	0.383000													18	29					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49949136	49949136	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49949136C>T	ENST00000417270.1	-	4	1153	c.460G>A	c.(460-462)Gat>Aat	p.D154N	MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D243N|MON1A_ENST00000455683.2_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	146							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCGTGGCATCCTCCTCATCC	0.637000													21	5					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384768	48384768	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:48384768C>T	ENST00000264313.6	+	5	1464	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S156L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	349						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCACGCAATTCACCTCGACCG	0.453000													34	33					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4802367	4802367	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:4802367C>T	ENST00000293780.4	-	11	1265	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	419					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CAGCGGACCTCGGGGGCGGCG	0.726000													3	2					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47600884	47600884	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:47600884G>A	ENST00000534716.2	+	2	149	c.131G>A	c.(130-132)cGc>cAc	p.R44H	NDUFS3_ENST00000263774.4_Missense_Mutation_p.R44H|NDUFS3_ENST00000534208.1_Missense_Mutation_p.R44H|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R44H|NDUFS3_ENST00000529276.1_Missense_Mutation_p.R44H			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	44					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GCCGACACGCGCCGTGAGTAT	0.657000													10	38					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220318850	220318850	+	Splice_Site	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:220318850G>C	ENST00000366922.1	+	22	2866		c.e22-1		IARS2_ENST00000302637.5_Splice_Site			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTCCTTCCAGATGCTGCAGT	0.393000													9	23					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51829744	51829744	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:51829744G>C	ENST00000251076.5	-	11	1845	c.1558C>G	c.(1558-1560)Cta>Gta	p.L520V	DMXL2_ENST00000449909.3_Missense_Mutation_p.L520V|DMXL2_ENST00000543779.2_Missense_Mutation_p.L520V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	520						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCCACACTAGAAAGGTACCA	0.338000													12	34					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37229562	37229562	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:37229562G>A	ENST00000233099.5	-	32	5299	c.5204C>T	c.(5203-5205)tCa>tTa	p.S1735L	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1735							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGGAGAGTCTGACACCTTGGT	0.453000													50	110					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110889272	110889272	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:110889272C>G	ENST00000316534.4	-	17	1867	c.1794G>C	c.(1792-1794)atG>atC	p.M598I	NPHP1_ENST00000355301.4_Missense_Mutation_p.M479I|NPHP1_ENST00000393272.3_Missense_Mutation_p.M597I|NPHP1_ENST00000417665.1_Missense_Mutation_p.M541I|NPHP1_ENST00000445609.2_Missense_Mutation_p.M542I			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	597					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTTGCAAGCTCATCCTGTCTT	0.378000													7	14					0	0	1	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42133274	42133274	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:42133274G>C	ENST00000542534.2	+	10	1106	c.1066G>C	c.(1066-1068)Gaa>Caa	p.E356Q	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.E125Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E125Q|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E356Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E356Q	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCTGGAAGTTGAATTTCGCCT	0.562000													13	42					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812126	133812126	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:133812126G>A	ENST00000285928.2	+	1	75	c.6G>A	c.(4-6)gcG>gcA	p.A2A	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	2							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACAAGATGGCGACCTCCGAGA	0.617000													22	57					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93117999	93117999	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:93117999C>T	ENST00000216487.7	+	6	764	c.605C>T	c.(604-606)cCc>cTc	p.P202L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	202					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GACCGGGCCCCCGGATTCCCC	0.602000													35	18					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748050	111748050	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:111748050G>A	ENST00000261726.6	+	15	1618	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	488	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCAGGGGAGAGACTGATGA	0.701000													2	1					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958328	47958328	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:47958328G>A	ENST00000426837.2	-	8	1127	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.S330L|MAP4_ENST00000360240.6_Missense_Mutation_p.S330L			P27816	MAP4_HUMAN	microtubule-associated protein 4	330	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATTCTTGGCTGAAGATACATC	0.473000													83	128					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17156369	17156369	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:17156369G>C	ENST00000265970.7	-	10	2104	c.2105C>G	c.(2104-2106)tCa>tGa	p.S702*	PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.S322*|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	702					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TACTTACTTTGATACCCAATT	0.468000													10	33					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	78084163	78084163	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:78084163C>T	ENST00000496424.2	+	2	884	c.8C>T	c.(7-9)tCt>tTt	p.S3F	C10orf11_ENST00000372499.1_Missense_Mutation_p.S146F|C10orf11_ENST00000593699.1_3'UTR			Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	146										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					ACACAGGCTTCTAGTGAGGAC	0.502000													36	51					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748549	125748549	+	Silent	SNP	C	C	T	rs139179091	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:125748549C>T	ENST00000373647.4	+	4	575	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	147	PID.				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						GCGTAGTTTTCAGTAAACTGA	0.423000													49	25					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16290712	16290712	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:16290712C>G	ENST00000259727.4	+	8	831	c.717C>G	c.(715-717)gtC>gtG	p.V239V	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	239					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CAGATTTTGTCATGCTGGGAG	0.502000													43	282					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44050239	44050239	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:44050239C>T	ENST00000262887.5	-	13	1993	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	XRCC1_ENST00000543982.1_Silent_p.A451A			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	482					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CAGAATCTTCCGCCCCATTGT	0.602000								Other BER factors					3	41					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48387932	48387932	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:48387932G>A	ENST00000224600.4	-	1	3059	c.2946C>T	c.(2944-2946)gcC>gcT	p.A982A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	982	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)	CCAGGATCTCGGCTAGGGCCA	0.602000													4	82					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156035720	156035720	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:156035720C>T	ENST00000361084.5	+	2	303	c.62C>T	c.(61-63)tCa>tTa	p.S21L	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	21					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCGGCGAATCAGGTGTGGGG	0.592000													11	23					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474306	43474306	+	Missense_Mutation	SNP	C	C	G	rs148897544		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:43474306C>G	ENST00000532038.1	-	10	1396	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E275Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E616Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E302Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E302Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E621Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.E643Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	643	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGTCCTCCTCTTTCTCCTGC	0.667000													14	25					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10131998	10131998	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:10131998C>T	ENST00000287647.3	+	37	3799	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C	FANCD2_ENST00000383807.1_Missense_Mutation_p.R1236C|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.R1236C|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1236			R -> H (in FANCD2; no effect on ubiquitination).		DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTTTTCTTCCGTGTGATGAT	0.463000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	14					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75280084	75280084	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:75280084C>T	ENST00000524558.1	+	4	2257	c.822C>T	c.(820-822)caC>caT	p.H274H	SERPINH1_ENST00000358171.3_Silent_p.H274H|SERPINH1_ENST00000525876.1_Silent_p.H57H|SERPINH1_ENST00000530284.1_Silent_p.H274H|SERPINH1_ENST00000533603.1_Silent_p.H274H			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	274					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	p.H274H(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					TGCCCCATCACGTGGAGCCTC	0.547000													22	20					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800192	12800192	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:12800192G>A	ENST00000380339.3	-	9	1422	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	FBXW9_ENST00000587955.1_Silent_p.L452L|FBXW9_ENST00000393261.3_Silent_p.L432L|FBXW9_ENST00000544494.1_Silent_p.L170L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	462							protein binding	p.L432L(1)|p.S117*(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTACCCTATTGAGCCCATTGT	0.622000													7	17					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049249	21049249	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:21049249G>C	ENST00000261383.3	-	34	4783	c.4784C>G	c.(4783-4785)tCt>tGt	p.S1595C	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1595C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1595	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGATGCTGAGAGGACAGTTG	0.532000													5	33					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49365238	49365238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49365238G>A	ENST00000351842.4	-	3	249	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	USP4_ENST00000416417.1_Nonsense_Mutation_p.Q81*|USP4_ENST00000415188.1_Nonsense_Mutation_p.Q81*|USP4_ENST00000265560.4_Nonsense_Mutation_p.Q81*	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	81	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCAAGGTCTGACTCTCAGGA	0.393000													24	2					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													5	28					0	0	1	0	0
HMCES	56941	broad.mit.edu	37	3	128998681	128998681	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:128998681G>C	ENST00000383463.4	+	2	195	c.106G>C	c.(106-108)Gat>Cat	p.D36H	HMCES_ENST00000417226.2_Missense_Mutation_p.D36H|HMCES_ENST00000502878.2_Missense_Mutation_p.D36H|HMCES_ENST00000389735.3_Missense_Mutation_p.D36H	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	36																	GAGGGACCCTGATAAGTACTG	0.552000													21	25					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46095010	46095010	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:46095010G>C	ENST00000323040.4	-	2	1059	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	39						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCGCCCACAGAGCCAGGCAG	0.647000													27	29					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906498	77906498	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:77906498C>T	ENST00000355300.6	-	2	1925	c.1751G>A	c.(1750-1752)cGg>cAg	p.R584Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.R578Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	584					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCCTTGCCCCGGCTCCAGAG	0.592000													20	16					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087699	47087699	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:47087699G>C	ENST00000374312.1	+	3	1335	c.916G>C	c.(916-918)Gtg>Ctg	p.V306L	NPY4R_ENST00000395716.1_Missense_Mutation_p.V306L	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		CATCTTCTTAGTGTGCCACTT	0.552000													7	45					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493445	60493445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:60493445C>T	ENST00000450662.2	+	12	1299	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.R358*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	358							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCAGAAGATCCGAGGGGATTT	0.423000													9	87					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40819591	40819591	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:40819591G>A	ENST00000396617.3	-	9	1166	c.576C>T	c.(574-576)ctC>ctT	p.L192L	MKL1_ENST00000407029.1_Silent_p.L192L|MKL1_ENST00000402042.1_Intron|MKL1_ENST00000355630.3_Silent_p.L192L	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	192	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TTCCATTGGTGAGGCTGGGAG	0.567000			T	RBM15	acute megakaryocytic leukemia								10	18					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789068	56789068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:56789068C>A	ENST00000413728.2	-	3	877	c.334G>T	c.(334-336)Gag>Tag	p.E112*	ARHGEF3_ENST00000495373.1_Nonsense_Mutation_p.E106*|ARHGEF3_ENST00000497267.1_Nonsense_Mutation_p.E77*|ARHGEF3_ENST00000338458.4_Nonsense_Mutation_p.E138*|ARHGEF3_ENST00000496106.1_Nonsense_Mutation_p.E112*|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000296315.3_Nonsense_Mutation_p.E106*	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	106					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCGAAGGTCTCACTCCACAGC	0.587000													55	59					2.43277e-16	2.63505e-16	1	1	0
PLSCR5	389158	broad.mit.edu	37	3	146311797	146311797	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:146311797C>G	ENST00000443512.1	-	4	1366	c.363G>C	c.(361-363)ctG>ctC	p.L121L	PLSCR5_ENST00000492200.1_Silent_p.L121L|PLSCR5_ENST00000482567.1_Silent_p.L109L	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	121								p.L121L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTGTGATCCTCAGGGTGCAAG	0.453000													49	48					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045450	20045450	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:20045450G>C	ENST00000343769.5	+	4	1714	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATACTGGAGAGAAACCTTATA	0.378000													9	38					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159039	152159039	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:152159039G>A	ENST00000439251.1	-	2	1542	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	PNMA5_ENST00000452693.1_Silent_p.T368T|PNMA5_ENST00000361887.5_Silent_p.T368T|PNMA5_ENST00000535214.1_Silent_p.T368T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	368					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCACGGTGGCCTGAG	0.582000													3	37					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653038	24653038	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:24653038C>T	ENST00000354464.6	-	19	2112	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	646					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCCATGAGCTCCTCCTCTTCT	0.532000													32	22					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777862	44777862	+	Missense_Mutation	SNP	G	G	A	rs116197330	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:44777862G>A	ENST00000391958.2	+	5	1176	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.S332N	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATGCCCGGAGCTCCAACCAG	0.527000													3	26					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57744876	57744876	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:57744876G>C	ENST00000302804.7	+	5	670	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	AURKC_ENST00000599062.1_Missense_Mutation_p.V159L|AURKC_ENST00000598785.1_Missense_Mutation_p.V128L|AURKC_ENST00000415300.2_Missense_Mutation_p.V143L|AURKC_ENST00000448930.1_Missense_Mutation_p.V128L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	162	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		TGACAAGAAAGTGATTCACAG	0.512000													26	29					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762669	53762669	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:53762669G>T	ENST00000341702.3	+	1	1125	c.1041G>T	c.(1039-1041)tgG>tgT	p.W347C	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	347					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGTTGGTGGCTAGTGAACA	0.458000													38	108					3.09479e-21	3.36724e-21	1	1	0
DLC1	10395	broad.mit.edu	37	8	13356815	13356815	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:13356815C>T	ENST00000276297.4	-	2	1175	c.766G>A	c.(766-768)Gag>Aag	p.E256K	DLC1_ENST00000511869.1_Missense_Mutation_p.E256K|DLC1_ENST00000316609.5_Missense_Mutation_p.E256K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	256					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAAGAACTCATTTTGTACT	0.433000													39	129					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275721	152275721	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:152275721C>G	ENST00000368799.1	-	3	11676	c.11641G>C	c.(11641-11643)Gag>Cag	p.E3881Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3881	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)			GAAGCAGACTCAGATCGCCTC	0.572000									Ichthyosis				24	97					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16583177	16583177	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:16583177G>A	ENST00000375592.3	-	5	796	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	194										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGGCTTGGCCGCGTCCAGCCA	0.473000													11	30					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121600261	121600261	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:121600261G>A	ENST00000546057.1	+	5	614	c.471G>A	c.(469-471)ggG>ggA	p.G157G	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000535250.1_Silent_p.G67G|P2RX7_ENST00000377162.2_Silent_p.G157G|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	157						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTATGAAGGGAACCAGAAGA	0.562000													13	6					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47646764	47646764	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:47646764C>T	ENST00000413379.3	+	2	214	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Missense_Mutation_p.R38W|SAE1_ENST00000392776.3_Missense_Mutation_p.R38W|SAE1_ENST00000270225.7_Missense_Mutation_p.R38W	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	38					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GCGGGCCTCTCGGGTGCTTCT	0.458000													24	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399686	179399686	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:179399686C>G	ENST00000589042.1	-	358	101880	c.101656G>C	c.(101656-101658)Gaa>Caa	p.E33886Q	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24821Q|TTN_ENST00000591111.1_Missense_Mutation_p.E32245Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31318Q|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24946Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25013Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32245			E -> V.				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)			ACTAATTCTTCCATGCTTTCA	0.333000													27	11					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45658387	45658387	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:45658387C>T	ENST00000396659.3	-	6	1174	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	GATM_ENST00000558336.1_Missense_Mutation_p.E279K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	279					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CGCATCCATTCAATGCCTAGG	0.363000													11	37					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85692951	85692951	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:85692951C>T	ENST00000526033.1	-	15	1907	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	PICALM_ENST00000356360.5_Missense_Mutation_p.D538N|PICALM_ENST00000528398.1_Missense_Mutation_p.D437N|PICALM_ENST00000532317.1_Missense_Mutation_p.D488N|PICALM_ENST00000393346.3_Missense_Mutation_p.D538N	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	538					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCCAAGTCATCAGATACTAAC	0.413000			T	"""MLLT10, MLL"""	"""TALL, AML, """								15	41					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127434365	127434365	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:127434365G>C	ENST00000337623.3	+	18	2683	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q	RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.E894Q|RP11-383C5.7_ENST00000594025.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAATCAATTGAGGATGCCAC	0.458000													19	79					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49159609	49159609	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49159609C>T	ENST00000418109.1	-	29	4932	c.4768G>A	c.(4768-4770)Gca>Aca	p.A1590T	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1590T	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1590	Domain I.				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)		GCCCGCCGTGCATCCTGCAGT	0.617000													18	21					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183884242	183884242	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:183884242G>T	ENST00000313143.3	+	9	1160	c.912G>T	c.(910-912)gaG>gaT	p.E304D	DVL3_ENST00000431765.1_Missense_Mutation_p.E304D|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	304	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGTAAACGAGATCAACTTTG	0.537000													20	80					5.35356e-11	5.67124e-11	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80801301	80801301	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:80801301C>T	ENST00000466387.1	+	17	2479	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	CTNNA2_ENST00000402739.4_Silent_p.F585F|CTNNA2_ENST00000541047.1_Silent_p.F585F|CTNNA2_ENST00000361291.4_Silent_p.F619F|CTNNA2_ENST00000343114.3_Silent_p.F264F|CTNNA2_ENST00000540488.1_Silent_p.F585F|CTNNA2_ENST00000496558.1_Silent_p.F585F			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	585					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCCACGCTTCGCTGAACAAG	0.493000													27	95					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227111	43227111	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:43227111G>A	ENST00000332499.2	+	1	2428	c.554G>A	c.(553-555)cGa>cAa	p.R185Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	185					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						CAGAGCCTTCGAGCTTCAAGG	0.552000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	52					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801675	67801675	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:67801675T>C	ENST00000544246.1	-	2	1589	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E	PCDH9_ENST00000328454.5_Missense_Mutation_p.K300E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K300E|PCDH9_ENST00000377861.3_Missense_Mutation_p.K300E|PCDH9_ENST00000377865.2_Missense_Mutation_p.K300E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGAGTCTTTTGGTTGCAGGG	0.463000													54	45					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31112958	31112958	+	Missense_Mutation	SNP	G	G	A	rs148460661		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:31112958G>A	ENST00000396268.3	-	13	2049	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CCHCR1_ENST00000376266.5_Missense_Mutation_p.R532W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R479W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R585W	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	532					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCCCGAGCCCGGCCCACCTCC	0.637000													3	32					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66204693	66204693	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:66204693C>G	ENST00000310999.7	-	4	448	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MRPL11_ENST00000329819.4_Missense_Mutation_p.E119Q|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.E93Q	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	119					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGGGCAATCTCATACACATGC	0.567000													8	23					0	0	1	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													2	4					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690530	77690530	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:77690530G>C	ENST00000521891.2	+	4	3628	c.3180G>C	c.(3178-3180)ttG>ttC	p.L1060F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1034F|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1034F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1034F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1034						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGTCAAGTTGAATCTGGTAC	0.537000										HNSCC(33;0.089)			50	191					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30519222	30519222	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:30519222G>A	ENST00000358365.3	+	9	770	c.543G>A	c.(541-543)atG>atA	p.M181I	RHOT1_ENST00000333942.6_Missense_Mutation_p.M181I|RHOT1_ENST00000581094.1_Missense_Mutation_p.M181I|RHOT1_ENST00000583994.1_Missense_Mutation_p.M54I|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.M181I|RHOT1_ENST00000545287.2_Missense_Mutation_p.M181I|RHOT1_ENST00000354266.3_Missense_Mutation_p.M160I	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	181					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATTTATAGATGAAACCAGCTT	0.274000													20	33					0	0	1	0	0
RRP7BP	91695	broad.mit.edu	37	22	42976311	42976311	+	RNA	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:42976311C>G	ENST00000357802.2	-	0	164																											GCCGTGTGCTCTCACATAGAG	0.517000													3	10					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100354610	100354610	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:100354610C>T	ENST00000273352.3	+	5	805	c.537C>T	c.(535-537)atC>atT	p.I179I	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	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													22	29					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67313237	67313237	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:67313237C>A	ENST00000371026.3	-	8	1276	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	WDR78_ENST00000371023.3_Missense_Mutation_p.M407I|WDR78_ENST00000431318.1_Missense_Mutation_p.M153I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	407										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GAACCCGTTCCATAAAAAATA	0.323000													3	30					0.00024832	0.000251979	1	1	0
LGMN	5641	broad.mit.edu	37	14	93172958	93172958	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:93172958G>C	ENST00000393218.2	-	13	1398	c.1061C>G	c.(1060-1062)tCc>tGc	p.S354C	LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.S354C|LGMN_ENST00000555699.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	354					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	p.S354F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGCCAGCAAGGAGACGATCTT	0.637000													12	17					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:201982405G>C	ENST00000359651.3	+	6	3976	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q|ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	262					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632000													8	45					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102881037	102881037	+	RNA	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:102881037G>T	ENST00000312132.4	-	0	2737																											ACATACATCTGAAGTACAAGG	0.333000													11	21					6.40141e-05	6.56485e-05	1	1	0
MSMP	692094	broad.mit.edu	37	9	35753714	35753714	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:35753714C>T	ENST00000436428.2	-	2	321	c.182G>A	c.(181-183)cGc>cAc	p.R61H	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	61						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						ACAGTCCTTGCGGAGCCAAGA	0.517000													4	16					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120942060	120942060	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:120942060G>C	ENST00000286234.5	+	3	437	c.307G>C	c.(307-309)Gat>Cat	p.D103H	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	103	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTCAGTGTGTGATGAGCATAA	0.368000													78	42					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51297831	51297831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:51297831G>C	ENST00000270593.1	+	9	979	c.979G>C	c.(979-981)Gat>Cat	p.D327H	ACPT_ENST00000270594.3_Missense_Mutation_p.D234H	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	327						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCCCGCCAAAGATGGAGGGTG	0.622000													4	25					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107037492	107037492	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:107037492G>A	ENST00000273980.5	-	25	2726	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	TBCK_ENST00000432496.2_Missense_Mutation_p.S760L|TBCK_ENST00000361687.4_Missense_Mutation_p.S697L|TBCK_ENST00000394706.3_Missense_Mutation_p.S721L|TBCK_ENST00000394708.2_Missense_Mutation_p.S760L|TBCK_ENST00000514689.1_5'UTR			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AATCCGTGGTGATACTTCTGA	0.358000													12	53					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146398396	146398396	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:146398396C>G	ENST00000442909.2	+	7	1218	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	NBPF12_ENST00000309471.8_Missense_Mutation_p.Q53E|NBPF12_ENST00000446760.2_Missense_Mutation_p.Q128E					neuroblastoma breakpoint family, member 12											ovary(2)	2						TGAGCATCTCCAGGCCCTCCT	0.552000													74	52					0	0	1	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:22555000G>C	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													3	17					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55598801	55598801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:55598801G>T	ENST00000201647.6	+	19	2139	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.E631*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.E381*|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.E568*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	695				E -> G (in Ref. 4; BAC11399).		cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTCGCTGCTGGAGGTGAGCCG	0.672000													15	54					1.15088e-07	1.19295e-07	1	1	0
ABHD13	84945	broad.mit.edu	37	13	108881641	108881641	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:108881641C>T	ENST00000375898.3	+	2	376	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	25						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTGGGCTCTCTGCCGTATTT	0.378000													17	50					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100847571	100847571	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:100847571C>G	ENST00000335290.6	+	2	536	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	WDR25_ENST00000554175.1_Missense_Mutation_p.Q104E|WDR25_ENST00000554998.1_Missense_Mutation_p.Q104E|WDR25_ENST00000402312.3_Missense_Mutation_p.Q104E	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	104										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GAAGGAGCCTCAAGTCACCTT	0.587000													12	29					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273142	2273142	+	Splice_Site	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:2273142C>G	ENST00000290974.2	-	12	2768		c.e12-1		ZFYVE28_ENST00000511071.1_Splice_Site|ZFYVE28_ENST00000515312.1_Splice_Site|ZFYVE28_ENST00000508471.1_Splice_Site	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28						negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCCGGGGGGTCTGTCACAACA	0.662000													8	7					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139975232	139975232	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:139975232C>T	ENST00000409858.3	+	7	1302	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	UAP1L1_ENST00000360271.3_Missense_Mutation_p.R301C	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	424							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCGCACCGCTCGCCAGGCCCT	0.677000													14	19					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149908108	149908108	+	Silent	SNP	A	A	G	rs1868992	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:149908108A>G	ENST00000439741.2	-	2	331	c.81T>C	c.(79-81)aaT>aaC	p.N27N	MTMR11_ENST00000406732.3_5'UTR|MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.N27N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	27							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCGGCATCCTATTTTCCTGGA	0.557000													5	88					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911506	100911506	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chrX:100911506C>T	ENST00000328766.5	-	5	1522	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARMCX2_ENST00000330154.2_Missense_Mutation_p.E357K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E357K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	357						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGCTGGGTCTCGGGCTCAGAG	0.567000													11	15					0	0	1	0	0
AMY1A	276	broad.mit.edu	37	1	104203056	104203056	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:104203056G>A	ENST00000370083.4	+	7	1173	c.953G>A	c.(952-954)cGa>cAa	p.R318Q		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2			amylase, alpha 1A (salivary)														all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GACAATCAACGAGGACATGGC	0.413000													50	163					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606700	55606700	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:55606700C>A	ENST00000378396.1	+	1	473	c.473C>A	c.(472-474)tCc>tAc	p.S158Y		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTCGCATGTTCCCTGACACTC	0.448000													11	39					0.0809354	0.0814423	1	1	0
ARSJ	79642	broad.mit.edu	37	4	114823986	114823986	+	Missense_Mutation	SNP	C	C	T	rs75252202	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:114823986C>T	ENST00000315366.7	-	2	2110	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	ARSJ_ENST00000541197.1_Missense_Mutation_p.R415Q	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	415						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AATATCTACTCGGGGTGAGCG	0.483000													40	54					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82879569	82879569	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:82879569C>G	ENST00000298281.4	+	8	2644	c.2192C>G	c.(2191-2193)tCa>tGa	p.S731*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	731	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGTCCAGCATCAAGATTCGCC	0.453000													16	37					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348312	89348312	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:89348312C>T	ENST00000301030.4	-	9	5098	c.4638G>A	c.(4636-4638)gtG>gtA	p.V1546V	ANKRD11_ENST00000378330.2_Silent_p.V1546V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1546	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCTCATCTTCACTGGGTCGC	0.572000													21	14					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59739443	59739443	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:59739443C>T	ENST00000361421.1	-	6	1163	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	315						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCGCAGCCTCGGTTTTCTTT	0.413000													14	48					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529362	113529362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:113529362G>A	ENST00000297405.5	-	28	4901	c.4657C>T	c.(4657-4659)Caa>Taa	p.Q1553*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1449*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q1553*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1513*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1553	Sushi 8.					integral to membrane|plasma membrane		p.Q1513*(1)|p.Q1553*(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						GGGTCACATTGAAAAACAACA	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	109					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42911597	42911597	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:42911597C>G	ENST00000244289.4	-	6	2142	c.1866G>C	c.(1864-1866)ctG>ctC	p.L622L	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	622					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)				TGGACTTTATCAGGCTGCTGA	0.667000													7	21					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285439	238285439	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:238285439C>G	ENST00000295550.4	-	7	3498	c.3046G>C	c.(3046-3048)Gtg>Ctg	p.V1016L	COL6A3_ENST00000346358.4_Missense_Mutation_p.V816L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V810L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V810L|COL6A3_ENST00000392004.3_Missense_Mutation_p.V810L|COL6A3_ENST00000392003.2_Missense_Mutation_p.V609L|COL6A3_ENST00000472056.1_Missense_Mutation_p.V409L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V815L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1016	Nonhelical region.				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)		CCGTTGTGCACTGATTTTAAG	0.498000													30	107					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239185789	239185789	+	Silent	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:239185789T>C	ENST00000254657.3	-	3	555	c.276A>G	c.(274-276)ccA>ccG	p.P92P	PER2_ENST00000440245.1_Silent_p.P92P|PER2_ENST00000254658.3_Silent_p.P92P|PER2_ENST00000355768.2_Silent_p.P92P	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	92					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CACTTGTAGATGGGTTGTGTT	0.368000													75	66					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28206336	28206336	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:28206336C>T	ENST00000373921.3	+	3	421	c.417C>T	c.(415-417)ctC>ctT	p.L139L	THEMIS2_ENST00000328928.7_Silent_p.L139L|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Silent_p.L139L	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGATGCACCTCGGGATCCGCT	0.617000													6	18					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172019	166172019	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:166172019C>T	ENST00000375437.2	+	11	1712	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	SCN2A_ENST00000375427.2_Silent_p.F474F|SCN2A_ENST00000357398.3_Silent_p.F474F|SCN2A_ENST00000283256.6_Silent_p.F474F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	474					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAAGAGACTTCAGTGGTGCTG	0.408000													12	28					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6718277	6718277	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:6718277G>C	ENST00000245907.6	-	3	506	c.414C>G	c.(412-414)atC>atG	p.I138M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	138					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		CAGGGGTGTAGATGGTCTTGT	0.657000													10	15					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21492746	21492746	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:21492746G>C	ENST00000313654.9	+	56	7471	c.7230G>C	c.(7228-7230)ttG>ttC	p.L2410F	LAMA3_ENST00000587184.1_Missense_Mutation_p.L745F|LAMA3_ENST00000269217.6_Missense_Mutation_p.L801F|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2354F|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2410	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAAGATTTGAAAGGATATA	0.428000													29	29					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60734982	60734982	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:60734982G>A	ENST00000331758.3	+	3	222	c.196G>A	c.(196-198)Gac>Aac	p.D66N	SS18L1_ENST00000421564.1_Missense_Mutation_p.D66N|SS18L1_ENST00000370848.4_Missense_Mutation_p.D69N	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	66	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CACGATCGCAGACTCCAACCA	0.617000			T	SSX1	synovial sarcoma								5	2					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112764549	112764549	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:112764549G>A	ENST00000369452.4	+	5	1503	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	SHOC2_ENST00000265277.5_Missense_Mutation_p.M340I|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	386					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGCTGAATATGAAGGTAAGCA	0.338000													12	12					0	0	1	0	0
PTTG1IP	754	broad.mit.edu	37	21	46285354	46285354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr21:46285354G>A	ENST00000330938.3	-	2	344	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	PTTG1IP_ENST00000445724.2_Nonsense_Mutation_p.Q42*|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Nonsense_Mutation_p.Q42*	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	42	PSI.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TTTGTGTTCTGAGAACAAGCT	0.522000													12	3					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178485	142178485	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:142178485G>A	ENST00000519811.1	+	13	2206	c.2136G>A	c.(2134-2136)tcG>tcA	p.S712S	DENND3_ENST00000262585.2_Silent_p.S632S|DENND3_ENST00000424248.1_Silent_p.S580S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	632										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGAGGCCTCGAAGCTGGACG	0.617000													88	27					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605692	101605692	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:101605692G>A	ENST00000284395.5	+	33	5441	c.5041G>A	c.(5041-5043)Gaa>Aaa	p.E1681K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E1684K|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1684					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1696K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCGCGGATGAAGACGCACG	0.607000													44	37					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122687887	122687887	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:122687887C>G	ENST00000339777.4	+	12	1897	c.1869C>G	c.(1867-1869)atC>atG	p.I623M	LRRC43_ENST00000425921.1_Missense_Mutation_p.I438M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	623										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGATTCCGATCTACGAAGGCG	0.612000													10	38					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375389	15375389	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:15375389C>G	ENST00000263377.2	-	6	1259	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	BRD4_ENST00000360016.5_Missense_Mutation_p.K346N|BRD4_ENST00000371835.4_Missense_Mutation_p.K346N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	346					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTTGCTGCTCTTCTCTGGTG	0.622000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	40					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24914444	24914444	+	Silent	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:24914444C>A	ENST00000405141.1	+	10	1338	c.627C>A	c.(625-627)acC>acA	p.T209T	NCOA1_ENST00000288599.5_Silent_p.T209T|NCOA1_ENST00000348332.3_Silent_p.T209T|NCOA1_ENST00000407230.1_Silent_p.T58T|NCOA1_ENST00000395856.3_Silent_p.T209T|NCOA1_ENST00000538539.1_Silent_p.T209T|NCOA1_ENST00000406961.1_Silent_p.T209T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	209									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)					AGCCAGGGACCGAGAACCAAG	0.473000			T	PAX3	alveolar rhadomyosarcoma								17	72					8.60227e-14	9.19356e-14	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113241935	113241935	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:113241935C>G	ENST00000401783.2	-	13	2803	c.2467G>C	c.(2467-2469)Gag>Cag	p.E823Q	SVEP1_ENST00000302728.8_Missense_Mutation_p.E823Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.E800Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.E800Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	823					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGGTCGTCTCAAATGCTTCA	0.383000													38	88					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004897	150004897	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:150004897G>C	ENST00000543571.1	-	4	1875	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	443					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCGGGGATGACTGGGCTGG	0.428000													70	74					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124376605	124376605	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:124376605G>A	ENST00000291478.5	+	8	1060	c.897G>A	c.(895-897)aaG>aaA	p.K299K	KALRN_ENST00000459915.1_Silent_p.K88K|KALRN_ENST00000393496.1_Silent_p.K337K|KALRN_ENST00000360013.3_Silent_p.K1996K|KALRN_ENST00000428018.2_Silent_p.K267K	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						AACTGGAAAAGTGTATCCAGG	0.408000													32	41					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829861	160829861	+	Silent	SNP	A	A	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:160829861A>T	ENST00000392145.1	+	4	792	c.765A>T	c.(763-765)atA>atT	p.I255I	SLC22A3_ENST00000275300.2_Silent_p.I255I			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	255						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTGGAATCATAATTCTCCCTG	0.428000													28	30					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917760	2917760	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:2917760G>A	ENST00000306908.5	+	4	1289	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E349K	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AACGTTTAGAGAACATGTGAG	0.443000													9	50					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178274877	178274877	+	Silent	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:178274877T>C	ENST00000264596.3	+	8	1573	c.1455T>C	c.(1453-1455)tcT>tcC	p.S485S	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	485					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CTGGATATTCTAACAGGTATG	0.363000								Base excision repair (BER), DNA glycosylases					28	21					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011443	160011443	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:160011443A>T	ENST00000368089.3	-	2	1106	c.880T>A	c.(880-882)Tgt>Agt	p.C294S	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	294						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCACCTGACAGGTGGCACTG	0.542000													37	15					0	0	1	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38123798	38123798	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:38123798G>A	ENST00000529359.1	-	5	570	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PPAPDC1B_ENST00000424479.2_Silent_p.F165F|PPAPDC1B_ENST00000422581.2_Silent_p.F165F|PPAPDC1B_ENST00000531823.1_Silent_p.F33F			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	165					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			CTGCCAGGTAGAAGGACGCAA	0.463000													4	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576811	179576811	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:179576811G>A	ENST00000589042.1	-	96	27970	c.27746C>T	c.(27745-27747)aCg>aTg	p.T9249M	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T8932M|TTN_ENST00000342992.6_Missense_Mutation_p.T8005M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8932	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T8005M(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)			TTTGTAAGTCGTAGTGGGTCT	0.403000													6	37					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552896	106552896	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:106552896G>A	ENST00000369096.4	+	5	1095	c.861G>A	c.(859-861)ggG>ggA	p.G287G	PRDM1_ENST00000369091.2_Silent_p.G251G|PRDM1_ENST00000369089.3_Silent_p.G153G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	287					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAAGACGTGGGAGCCCCGAAA	0.527000			"""D, N, Mis, F, S"""		DLBCL								33	149					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99522488	99522488	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:99522488C>G	ENST00000375231.1	-	6	1274	c.624G>C	c.(622-624)gaG>gaC	p.E208D	ZNF510_ENST00000223428.4_Missense_Mutation_p.E208D			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AAGGTGAATTCTCACATACAT	0.279000													8	8					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443205	81443205	+	RNA	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:81443205T>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GAATGAGCCATAGAAGTGGGA	0.547000													8	5					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62122781	62122781	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:62122781C>T	ENST00000433197.3	-	20	2686	c.2591G>A	c.(2590-2592)aGa>aAa	p.R864K		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCTCCCGCCTCTCTCTAACTG	0.557000													14	25					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42812951	42812951	+	Splice_Site	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr21:42812951C>A	ENST00000398600.2	+	11	1754	c.729C>A	c.(727-729)atC>atA	p.I243I	MX1_ENST00000398598.3_Splice_Site_p.I243I|MX1_ENST00000288383.6_Splice_Site_p.I220I|MX1_ENST00000455164.2_Splice_Site_p.I243I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	243					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				ACAGGACCATCGGTGAGAGTG	0.637000													18	19					1.96292e-10	2.06578e-10	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185966560	185966560	+	Splice_Site	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:185966560G>C	ENST00000271588.4	+	25	4007		c.e25-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						TTTCCTAATAGAACCACCCAC	0.403000													5	41					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46893544	46893544	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:46893544C>T	ENST00000012443.4	+	13	1544	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y	PPP5C_ENST00000391919.1_Missense_Mutation_p.H353Y	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	481	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCCACAGCCTCATCCCAACGT	0.637000													3	3					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135602534	135602534	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:135602534G>A	ENST00000520727.1	-	9	2803	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	ZFAT_ENST00000429442.2_Missense_Mutation_p.S835L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S835L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Missense_Mutation_p.S785L|ZFAT_ENST00000377838.3_Missense_Mutation_p.S847L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S835L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGATATGTGACTTTATCAA	0.313000													57	24					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497368	28497368	+	Silent	SNP	A	A	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:28497368A>G	ENST00000412168.2	+	2	317	c.228A>G	c.(226-228)acA>acG	p.T76T	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Silent_p.T76T	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	76					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTGGTCTGACAGCGCAATATC	0.378000													11	31					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107531746	107531746	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:107531746T>A	ENST00000369037.4	-	6	1182	c.905A>T	c.(904-906)aAa>aTa	p.K302I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	302					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGTCTTTTCTTTAATAAAAGG	0.313000													4	48					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838803	37838803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:37838803G>T	ENST00000327441.7	+	11	1376	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.E304*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.E273*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.E304*|MIPOL1_ENST00000536774.1_Nonsense_Mutation_p.E123*|MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.E273*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.E273*	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	304										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TCTGACTGCTGAAAACAATCA	0.458000													20	12					1.96292e-10	2.06578e-10	1	1	0
CIDECP	152302	broad.mit.edu	37	3	10065426	10065426	+	RNA	SNP	C	C	T	rs6803517	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:10065426C>T	ENST00000432401.1	-	0	322																											GTGGGTGCCTCGTCCCCTGCA	0.502000													6	53					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009934	184009934	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:184009934G>A	ENST00000402825.3	+	19	2560	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	ECE2_ENST00000404464.3_Missense_Mutation_p.G736S|ECE2_ENST00000359140.4_Missense_Mutation_p.G707S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G782S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	854	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi 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)			CCGCGTGCTGGGCACTCTCTC	0.672000													3	43					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23536474	23536474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:23536474C>A	ENST00000563232.1	-	8	1579	c.1579G>T	c.(1579-1581)Gag>Tag	p.E527*	EARS2_ENST00000563459.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.L502F|EARS2_ENST00000449606.1_Intron|EARS2_ENST00000564987.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	0					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	tttgtatactcaatattgagc	0.453000													4	18					2.56e-06	2.63658e-06	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59885937	59885937	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:59885937C>A	ENST00000259008.2	-	7	1076	c.809G>T	c.(808-810)gGg>gTg	p.G270V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G270V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	270	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CATTGGAACCCCTGAATATGC	0.443000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					5	111					0.000602214	0.000609805	1	1	0
ACTR5	79913	broad.mit.edu	37	20	37394955	37394955	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:37394955C>T	ENST00000243903.4	+	7	1405	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	456					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGATTATTTTCCAGCCATCTC	0.428000													18	57					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41377721	41377721	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:41377721G>A	ENST00000361937.3	-	7	1143	c.719C>T	c.(718-720)tCc>tTc	p.S240F	INO80_ENST00000401393.3_Missense_Mutation_p.S240F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	240	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCGACGAGGGGATTCTTCAGA	0.453000													13	42					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128153310	128153310	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:128153310G>A	ENST00000284694.7	-	4	1609	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	C10orf90_ENST00000356858.3_Silent_p.L450L|C10orf90_ENST00000544758.1_Silent_p.L594L|C10orf90_ENST00000454341.1_Intron	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	497										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTTCCTGCAGAGATGCACAT	0.453000													76	85					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33836933	33836933	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:33836933C>G	ENST00000261326.5	+	12	2188	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	723	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	ATTTTCAGATCAACTTCCTGG	0.393000													23	96					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882715	15882715	+	Silent	SNP	G	G	A	rs72345528		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr21:15882715G>A	ENST00000285670.2	-	6	855	c.681C>T	c.(679-681)ccC>ccT	p.P227P	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.P159P	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	159					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTCCTGAATAGGGGCCATCGT	0.493000													3	37					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54125027	54125027	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:54125027C>G	ENST00000404125.1	-	31	3641	c.3586G>C	c.(3586-3588)Gat>Cat	p.D1196H	PSME4_ENST00000421748.2_Missense_Mutation_p.D340H	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAATTGCATCATGGTTGAGA	0.403000													39	89					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601105	13601105	+	Silent	SNP	A	A	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:13601105A>G	ENST00000040738.5	-	10	7554	c.7419T>C	c.(7417-7419)gaT>gaC	p.D2473D		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2473							DNA binding										CTGGGCTCTTATCTTCTTTCT	0.478000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	28					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937157	29937157	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:29937157G>C	ENST00000568000.1	-	1	1199	c.198C>G	c.(196-198)ctC>ctG	p.L66L	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L66L	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	66	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						ACATGGCTTTGAGCATGGTGT	0.657000													3	25					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201324545	201324545	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:201324545A>C	ENST00000358677.5	+	9	1089	c.842A>C	c.(841-843)gAa>gCa	p.E281A	SPATS2L_ENST00000409140.3_Missense_Mutation_p.E281A|SPATS2L_ENST00000451764.2_Missense_Mutation_p.E281A|SPATS2L_ENST00000360760.5_Missense_Mutation_p.E212A|SPATS2L_ENST00000409385.1_Missense_Mutation_p.E221A|SPATS2L_ENST00000409988.3_Missense_Mutation_p.E281A|SPATS2L_ENST00000409755.3_Missense_Mutation_p.E311A|SPATS2L_ENST00000409151.1_Missense_Mutation_p.E289A|SPATS2L_ENST00000409718.1_Missense_Mutation_p.E281A	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GTTAAAGAAGAAGCCAGTAAG	0.368000													13	6					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475326	50475326	+	RNA	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:50475326C>T	ENST00000602139.1	+	0	1272									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CCGCTGGGCTCCCAGCGCGTC	0.672000													8	30					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035497	242035497	+	Missense_Mutation	SNP	A	A	C	rs149743211	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:242035497A>C	ENST00000391980.2	-	4	1120	c.1062T>G	c.(1060-1062)gaT>gaG	p.D354E	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D166E|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	354										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		catcattgtcatcctcatcat	0.522000													4	30					0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126208199	126208199	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:126208199G>A	ENST00000263579.4	+	4	870	c.541G>A	c.(541-543)Gac>Aac	p.D181N	DCPS_ENST00000530860.1_Intron	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	181					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TAACATTCTCGACAAGAAGGC	0.502000													12	22					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74755396	74755396	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:74755396G>C	ENST00000377526.3	-	6	959	c.650C>G	c.(649-651)cCt>cGt	p.P217R		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	283						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CACCGTGAAAGGGACGAAAAG	0.552000													12	65					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041210	56041210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:56041210G>A	ENST00000413299.1	-	4	974	c.937C>T	c.(937-939)Cga>Tga	p.R313*	SBK2_ENST00000344158.3_Nonsense_Mutation_p.R313*	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	313	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTCCTTCGGGGGTGAGGG	0.761000													8	12					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11863056	11863056	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:11863056C>T	ENST00000376592.1	-	1	246	c.118G>A	c.(118-120)Gag>Aag	p.E40K	MTHFR_ENST00000376585.1_Missense_Mutation_p.E81K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E81K|MTHFR_ENST00000376590.3_Missense_Mutation_p.E40K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	40					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCATGCCGCTCGGGGTCCAGG	0.592000													15	12					0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20470056	20470056	+	Missense_Mutation	SNP	G	G	A	rs145617803	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:20470056G>A	ENST00000375102.3	+	3	389	c.287G>A	c.(286-288)cGt>cAt	p.R96H		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	53					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTGGGGGGCCGTGGCCAGCCC	0.642000													3	36					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368350	45368350	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:45368350C>T	ENST00000559488.1	+	9	1172	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	ITGB3_ENST00000560629.1_Missense_Mutation_p.A374V|ITGB3_ENST00000435993.2_Missense_Mutation_p.R339C|ITGB3_ENST00000571680.1_Missense_Mutation_p.R386C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	386					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCTGGAAGTGCGTGACCTCCC	0.473000													36	40					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237184	42237184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:42237184G>A	ENST00000541110.1	-	5	713	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	TRERF1_ENST00000340840.2_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000372922.4_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.Q49*			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	49					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCGAGGCCTGAGGGGCATCC	0.562000													15	46					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99885224	99885224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:99885224C>G	ENST00000421999.2	+	5	547	c.401C>G	c.(400-402)tCa>tGa	p.S134*	CMSS1_ENST00000489081.1_Nonsense_Mutation_p.S116*	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		AGTCTTTCCTCATACCTAAAA	0.313000													12	25					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346463	50346463	+	Silent	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:50346463G>T	ENST00000338821.5	-	2	387	c.123C>A	c.(121-123)gtC>gtA	p.V41V	ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Silent_p.V26V|ATP9A_ENST00000402822.1_Silent_p.V41V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	41					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCCCAGCCAGACAGTGCGGG	0.587000													20	76					6.44725e-10	6.7556e-10	1	1	0
ABL1	25	broad.mit.edu	37	9	133759600	133759600	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:133759600C>T	ENST00000318560.5	+	11	2304	c.1923C>T	c.(1921-1923)atC>atT	p.I641I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	641					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCGAGACATCAGCAACGGGG	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								23	25					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155532414	155532414	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:155532414C>A	ENST00000461783.3	+	17	4414	c.3141C>A	c.(3139-3141)caC>caA	p.H1047Q	TIAM2_ENST00000367174.2_Missense_Mutation_p.H423Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.H383Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1071Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1047Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.H359Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1047Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.H1047Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1047					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGTTTCCCACAGGGAGAAAA	0.463000													5	19					8.12818e-05	8.30039e-05	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49159500	49159500	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:49159500C>T	ENST00000418109.1	-	30	4964	c.4800G>A	c.(4798-4800)gaG>gaA	p.E1600E	LAMB2_ENST00000305544.4_Silent_p.E1600E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1600	Domain I.				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)		CCTTCTGTTTCTCATCCTCAG	0.622000													14	15					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52927207	52927207	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:52927207G>A	ENST00000354452.3	-	13	1653	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	TCF4_ENST00000570177.2_Missense_Mutation_p.P218S|TCF4_ENST00000568740.1_Missense_Mutation_p.P323S|TCF4_ENST00000564403.2_Missense_Mutation_p.P354S|TCF4_ENST00000564228.1_Missense_Mutation_p.P277S|TCF4_ENST00000561831.3_Missense_Mutation_p.P188S|TCF4_ENST00000565018.2_Missense_Mutation_p.P348S|TCF4_ENST00000540999.1_Missense_Mutation_p.P324S|TCF4_ENST00000561992.1_Missense_Mutation_p.P218S|TCF4_ENST00000567880.1_Missense_Mutation_p.P288S|TCF4_ENST00000356073.4_Missense_Mutation_p.P348S|TCF4_ENST00000566286.1_Missense_Mutation_p.P346S|TCF4_ENST00000398339.1_Missense_Mutation_p.P450S|TCF4_ENST00000566279.1_Missense_Mutation_p.P288S|TCF4_ENST00000537578.1_Missense_Mutation_p.P324S|TCF4_ENST00000564999.1_Missense_Mutation_p.P348S|TCF4_ENST00000568673.1_Missense_Mutation_p.P324S|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000544241.2_Missense_Mutation_p.P277S|TCF4_ENST00000457482.3_Missense_Mutation_p.P188S|TCF4_ENST00000543082.1_Missense_Mutation_p.P306S|TCF4_ENST00000537856.3_Missense_Mutation_p.P218S|TCF4_ENST00000570287.2_Missense_Mutation_p.P188S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	348					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGCCAACAGGAGTTGAAGGG	0.348000													42	55					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085066	44085066	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:44085066C>T	ENST00000359947.4	+	28	5094	c.4754C>T	c.(4753-4755)tCa>tTa	p.S1585L	PTPRF_ENST00000438120.1_Missense_Mutation_p.S1576L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1576L|PTPRF_ENST00000422171.2_Missense_Mutation_p.S944L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1585L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1585	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCATGCGATCACAGAGGAAC	0.607000													5	24					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111637044	111637044	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:111637044C>T	ENST00000527614.1	-	1	107	c.42G>A	c.(40-42)gcG>gcA	p.A14A	PPP2R1B_ENST00000311129.5_Silent_p.A14A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Silent_p.A14A|PPP2R1B_ENST00000393055.2_Silent_p.A14A|PPP2R1B_ENST00000426998.2_Silent_p.A14A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	14							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATCTCCACCCGCTGCTCCTG	0.667000													9	16					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675451	73675451	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:73675451G>A	ENST00000264448.6	+	8	1905	c.1794G>A	c.(1792-1794)ttG>ttA	p.L598L	ALMS1_ENST00000377715.1_Silent_p.L598L|ALMS1_ENST00000409009.1_Silent_p.L556L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	598	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAGGCTTTGAAAGTTTCAG	0.483000													19	121					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558818	47558818	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr21:47558818T>C	ENST00000397748.1	-	11	1323	c.1280A>G	c.(1279-1281)aAg>aGg	p.K427R	FTCD_ENST00000291670.5_Missense_Mutation_p.K427R|FTCD_ENST00000397746.3_Missense_Mutation_p.K427R|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.K427R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Intron			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	427	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGTGTGTTCTTGGGGAGCCT	0.627000													28	2					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216377	149216377	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:149216377G>A	ENST00000309241.5	+	8	2391	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E723K|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E748K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E787K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	787	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGAGCCCTGAGTATGACAC	0.602000													49	61					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81386604	81386604	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:81386604C>A	ENST00000222390.5	-	4	609	c.383G>T	c.(382-384)tGc>tTc	p.C128F	HGF_ENST00000453411.1_Missense_Mutation_p.C128F|HGF_ENST00000457544.2_Missense_Mutation_p.C128F|HGF_ENST00000453018.1_Missense_Mutation_p.C25F|HGF_ENST00000444829.2_Missense_Mutation_p.C128F|HGF_ENST00000423064.2_Missense_Mutation_p.C128F|HGF_ENST00000354224.6_Missense_Mutation_p.C128F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	128	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCAATGATGCAGTTTCTAAT	0.373000													13	25					0.00010058	0.000102494	1	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980380	158980380	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:158980380C>T	ENST00000485419.1	+	4	368	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	IQCJ_ENST00000397832.2_Silent_p.L67L|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.L40L|IQCJ_ENST00000451172.1_Silent_p.L67L|IQCJ_ENST00000482126.1_Silent_p.L40L	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCAGGAGCCCCTGGGGAAGAG	0.537000													39	53					0	0	1	0	0
PRDX3	10935	broad.mit.edu	37	10	120928696	120928696	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:120928696G>C	ENST00000298510.2	-	6	752	c.710C>G	c.(709-711)tCt>tGt	p.S237C	PRDX3_ENST00000356951.3_Missense_Mutation_p.S219C|PRDX3_ENST00000494433.1_5'UTR	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	237					cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TACCGTAGGAGAATCCGGTGT	0.522000													10	59					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344283	118344283	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:118344283G>A	ENST00000534358.1	+	3	2432	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L	KMT2A_ENST00000389506.5_Silent_p.L803L|KMT2A_ENST00000354520.4_Silent_p.L803L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCATTCCCTGACTCAGTCTG	0.478000													49	44					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210637859	210637859	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:210637859G>A	ENST00000367010.1	+	8	1094	c.867G>A	c.(865-867)gcG>gcA	p.A289A	HHAT_ENST00000545154.1_Silent_p.A290A|HHAT_ENST00000308852.6_Silent_p.A244A|HHAT_ENST00000541565.1_Silent_p.A152A|HHAT_ENST00000545781.1_Silent_p.A226A|HHAT_ENST00000391905.3_Silent_p.A289A|HHAT_ENST00000261458.3_Silent_p.A289A|HHAT_ENST00000537898.1_Silent_p.A224A|HHAT_ENST00000413764.2_Silent_p.A289A|HHAT_ENST00000367009.1_5'UTR	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	289					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GAGGACTGGCGTTAGCCCAGG	0.567000													26	129					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154215532	154215532	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:154215532C>T	ENST00000338700.5	+	5	746	c.681C>T	c.(679-681)atC>atT	p.I227I	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.I200I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	200						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGGCCAGCATCGTGGATGACA	0.443000													16	38					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55551623	55551623	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:55551623G>C	ENST00000294383.6	-	56	6756	c.6757C>G	c.(6757-6759)Cag>Gag	p.Q2253E	USP24_ENST00000407756.1_Missense_Mutation_p.Q2093E	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2253					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACCTTATCCTGATAAAACAAG	0.383000													26	21					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084575	152084575	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:152084575C>T	ENST00000368804.1	-	2	1117	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctgctgctcgcgcctctcctc	0.721000													12	34					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592576	33592576	+	Translation_Start_Site	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:33592576G>C	ENST00000228567.3	-	0	178				SYT10_ENST00000535526.1_De_novo_Start_OutOfFrame	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGGCTGGAGATTGCGCCGC	0.627000													5	15					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202572216	202572216	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:202572216C>T	ENST00000367267.1	-	4	568	c.376G>A	c.(376-378)Gag>Aag	p.E126K	SYT2_ENST00000367268.4_Missense_Mutation_p.E126K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	126					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTTCCCCCTCAGTCAGGCCT	0.552000													11	60					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066419	63066419	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:63066419G>A	ENST00000544661.1	+	6	821	c.393G>A	c.(391-393)ttG>ttA	p.L131L	SLC22A10_ENST00000535888.1_Silent_p.L76L|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Silent_p.L126L|SLC22A10_ENST00000332793.6_Silent_p.L286L			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	286						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCGGTGGTTGATAATCACCA	0.393000													15	33					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567471	52567471	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:52567471C>G	ENST00000313234.5	-	5	841	c.744G>C	c.(742-744)ctG>ctC	p.L248L	KRT80_ENST00000394815.2_Silent_p.L248L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	248	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CGATGCCGCTCAGGTCGATGT	0.662000													21	15					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901945	51901945	+	Silent	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:51901945T>C	ENST00000268919.4	+	1	1707	c.1551T>C	c.(1549-1551)atT>atC	p.I517I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	517					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTGCATGATTGCTACCATCT	0.463000													26	24					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123339084	123339084	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:123339084G>A	ENST00000360772.3	-	32	5563	c.5185C>T	c.(5185-5187)Ccg>Tcg	p.P1729S	MYLK_ENST00000475616.1_Missense_Mutation_p.P1780S|MYLK_ENST00000359169.1_Missense_Mutation_p.P1729S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.P20S|MYLK_ENST00000346322.5_Missense_Mutation_p.P1711S|MYLK_ENST00000354792.5_Missense_Mutation_p.P580S|MYLK_ENST00000418370.2_Missense_Mutation_p.P20S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.P20S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.P1780S			Q15746	MYLK_HUMAN	myosin light chain kinase	1780	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCATTGAGCGGGCTGGTTGGT	0.507000													104	82					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819589	42819589	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:42819589G>A	ENST00000598766.1	+	8	715	c.715G>A	c.(715-717)Gag>Aag	p.E239K	TMEM145_ENST00000301204.3_Missense_Mutation_p.E215K			Q8NBT3	TM145_HUMAN	transmembrane protein 145	215						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGCAggagtagagggtgaggt	0.542000													20	33					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35673357	35673357	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:35673357G>A	ENST00000396081.1	-	8	1968	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	HERPUD2_ENST00000311350.3_Silent_p.F388F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	388					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGGTGGTGATGAAAGACCAAG	0.483000													49	27					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38164578	38164578	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:38164578C>T	ENST00000379747.4	-	4	489	c.372G>A	c.(370-372)gaG>gaA	p.E124E	POSTN_ENST00000379749.4_Silent_p.E124E|POSTN_ENST00000379742.4_Silent_p.E124E|POSTN_ENST00000379743.4_Silent_p.E124E|POSTN_ENST00000541179.1_Silent_p.E124E|POSTN_ENST00000541481.1_Silent_p.E124E	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	124	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCGATCTCCTCCCTCAGTT	0.433000													8	17					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354041	17354041	+	RNA	SNP	T	T	C	rs7715898	by1000genomes	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:17354041T>C	ENST00000511821.1	+	0	23				FTH1P10_ENST00000401830.3_RNA																							TCCGCCAAGCTAGATTCGGGT	0.488000													3	39					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55874511	55874511	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:55874511C>T	ENST00000447944.2	-	19	1659	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	525					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGATAATCTTCTATTTCACCC	0.323000													20	80					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273784	18273784	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:18273784G>A	ENST00000593731.1	+	10	1677	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.G373R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	373	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.G373R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGGAAAGGCGGGAACAATAA	0.562000													20	17					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336751	12336751	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:12336751C>T	ENST00000358136.3	+	19	3236	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R1036W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1036					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)		GGGAAGCCTTCGGGATAGCAG	0.483000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	29					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508030	15508030	+	Silent	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:15508030G>C	ENST00000397410.5	-	12	1597	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	AKAP8L_ENST00000595465.2_Silent_p.L428L	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGGAATGAAGAGGTCGCAGG	0.562000													21	60					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6971981	6971981	+	Splice_Site	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:6971981C>G	ENST00000389658.3	-	48	6868		c.e48-1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGAGATTTCTAATGCAAAC	0.403000													36	34					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7703942	7703942	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:7703942C>T	ENST00000441779.2	+	3	162	c.125C>T	c.(124-126)tCt>tTt	p.S42F	STXBP2_ENST00000414284.2_Missense_Mutation_p.S42F|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000221283.5_Missense_Mutation_p.S42F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	42					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCATCTTGTCTTCCTGCTGC	0.572000													19	14					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981202	201981202	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:201981202G>A	ENST00000359651.3	+	2	3473	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ELF3_ENST00000367284.5_Missense_Mutation_p.R94Q|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R94Q			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	94	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GACTTCTCACGATGTGACATG	0.582000													13	54					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40871131	40871131	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:40871131C>G	ENST00000428826.2	-	8	880	c.759G>C	c.(757-759)atG>atC	p.M253I	EZH1_ENST00000590078.1_Missense_Mutation_p.M183I|EZH1_ENST00000435174.1_Missense_Mutation_p.M114I|EZH1_ENST00000585893.1_Missense_Mutation_p.M213I|EZH1_ENST00000592743.1_Missense_Mutation_p.M253I|EZH1_ENST00000415827.2_Missense_Mutation_p.M244I			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	253					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACCTCTCCTTCATGTCATCTG	0.418000													33	135					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136653479	136653479	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:136653479C>G	ENST00000371851.1	-	14	1714	c.1389G>C	c.(1387-1389)aaG>aaC	p.K463N	VAV2_ENST00000371850.3_Missense_Mutation_p.K468N|VAV2_ENST00000406606.3_Missense_Mutation_p.K463N			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	468	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCCCCACCTTCTTGACGTCCT	0.612000													11	33					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2115969	2115969	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:2115969G>A	ENST00000382203.1	+	25	3813	c.3604G>A	c.(3604-3606)Ggc>Agc	p.G1202S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1202S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1202S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1202S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1202	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATCCAGGCGGGCATGTTTGA	0.532000											OREG0019074	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855883	123855883	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:123855883C>G	ENST00000274008.4	+	5	1206	c.1137C>G	c.(1135-1137)ttC>ttG	p.F379L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTGAGCTTTTCAAGAGTTATG	0.338000													25	47					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88748104	88748104	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:88748104G>A	ENST00000332281.5	-	2	181	c.95C>T	c.(94-96)tCt>tTt	p.S32F	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	32					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CCCACAGGCAGAGCAGGCACC	0.607000													9	2					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78173057	78173057	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:78173057G>C	ENST00000369947.2	-	1	433	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	22					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	AAGTTGGCTTGAGGAACCCAG	0.617000													48	28					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423000													17	43					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990589	990589	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:990589C>G	ENST00000190165.2	+	2	1041	c.1003C>G	c.(1003-1005)Cga>Gga	p.R335G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	335					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCCTTTCGAGTCCCAGA	0.577000													14	36					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475660	17475660	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:17475660G>C	ENST00000377873.3	-	8	1096	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	BFSP1_ENST00000377868.2_Missense_Mutation_p.L228V|BFSP1_ENST00000544874.1_Missense_Mutation_p.L214V|BFSP1_ENST00000536626.1_Missense_Mutation_p.L214V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	353	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATATCCTGCAGAGCTCTGGTA	0.403000													17	68					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133526617	133526617	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:133526617C>G	ENST00000466490.2	+	4	562	c.277C>G	c.(277-279)Cag>Gag	p.Q93E		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	93						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TAGAGACACTCAGACGTCCAT	0.358000													20	39					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54967183	54967183	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:54967183A>C	ENST00000326764.5	+	9	1542	c.1063A>C	c.(1063-1065)Aag>Cag	p.K355Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	318							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCTAAGAAGAAGCGGTGGGA	0.706000													9	10					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149829	18149829	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:18149829C>T	ENST00000375406.1	+	2	542	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	109						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGGGAGCCTGCGGACCGAAAG	0.602000													15	18					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70482147	70482147	+	Splice_Site	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:70482147G>T	ENST00000310961.5	+	15	1569		c.e15-1		LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			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						TGTTTTTGCAGATTGAAGAAT	0.299000													8	28					5.4927e-09	5.74291e-09	1	1	0
OR10G7	390265	broad.mit.edu	37	11	123909459	123909459	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:123909459C>A	ENST00000330487.5	-	1	258	c.250G>T	c.(250-252)Gtg>Ttg	p.V84L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	84					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)		CTTGGGGACACCAAGGTCATC	0.527000													26	85					2.44723e-14	2.63296e-14	1	1	0
TMEM201	199953	broad.mit.edu	37	1	9661427	9661427	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:9661427G>T	ENST00000340305.5	+	5	880	c.871G>T	c.(871-873)Gcc>Tcc	p.A291S	TMEM201_ENST00000340381.6_Missense_Mutation_p.A291S|TMEM201_ENST00000377376.4_Missense_Mutation_p.A291S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	291						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGCCTGGGCCTTTGGGCA	0.677000													17	48					5.35267e-07	5.52459e-07	1	1	0
LURAP1L	286343	broad.mit.edu	37	9	12821739	12821739	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:12821739G>A	ENST00000319264.3	+	2	1362	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	226																	ATTGGATTCTGAATACTACTG	0.453000													61	44					0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139250961	139250961	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:139250961G>A	ENST00000440944.1	+	13	2000	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	GPSM1_ENST00000429455.1_Missense_Mutation_p.E85K|GPSM1_ENST00000392944.1_Missense_Mutation_p.E85K	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	594					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CGAGCCCCAGGAGCCGGGGGA	0.706000													10	2					0	0	1	0	0
UFSP1	402682	broad.mit.edu	37	7	100486857	100486857	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751000													11	4					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3553402	3553402	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:3553402C>T	ENST00000262919.5	+	12	1964	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	ATRN_ENST00000446916.2_Silent_p.F632F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	632					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCGGTGGTTTCAATAGTCTCC	0.433000													34	31					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61030029	61030029	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:61030029G>C	ENST00000406396.3	-	2	572	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V	KDSR_ENST00000326575.5_Missense_Mutation_p.L61V	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	61					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CGTGCAACCAGAGTTATAAAA	0.383000													7	56					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982373	201982373	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:201982373G>C	ENST00000359651.3	+	6	3944	c.752G>C	c.(751-753)cGa>cCa	p.R251P	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R251P|ELF3_ENST00000367283.3_Missense_Mutation_p.R251P			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	251					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCGGCCCCGAAAGCTGAGC	0.642000													8	52					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101477264	101477264	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:101477264G>A	ENST00000341893.3	+	9	2566	c.1814G>A	c.(1813-1815)aGg>aAg	p.R605K	CEP97_ENST00000327230.4_Missense_Mutation_p.R605K|CEP97_ENST00000494050.1_Missense_Mutation_p.R546K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	605	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATGAAATAAGGAGGTGGGTC	0.418000													3	37					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37196942	37196942	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:37196942C>T	ENST00000216200.5	-	5	380	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PVALB_ENST00000417718.2_Missense_Mutation_p.E109K|PVALB_ENST00000404171.1_Missense_Mutation_p.E77K	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	109	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTAGCTTTCAGCCACCAGA	0.562000													16	7					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239169492	239169492	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:239169492C>T	ENST00000254657.3	-	13	1798	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	507					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGTGAGTCCTCATGGCCGTTG	0.582000													46	125					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819584	42819584	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:42819584G>A	ENST00000598766.1	+	8	710	c.710G>A	c.(709-711)gGa>gAa	p.G237E	TMEM145_ENST00000301204.3_Missense_Mutation_p.G213E			Q8NBT3	TM145_HUMAN	transmembrane protein 145	213						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GCCGCAGCAggagtagagggt	0.532000													21	36					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517820	70517820	+	Missense_Mutation	SNP	G	G	A	rs145472014		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:70517820G>A	ENST00000381269.2	-	6	2789	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	SLC8A3_ENST00000216568.7_Missense_Mutation_p.T50M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.T677M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.T676M|SLC8A3_ENST00000394330.2_Missense_Mutation_p.T36M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.T36M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.T677M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T673M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	679					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)		TTTGTCCACCGTAGTCTGTTA	0.493000													10	25					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665532	155665532	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:155665532C>G	ENST00000336356.3	+	2	307	c.54C>G	c.(52-54)ctC>ctG	p.L18L	LRAT_ENST00000507827.1_Silent_p.L18L	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	18					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AGCTGCTCCTCATCTCCAACT	0.577000													29	17					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28612237	28612237	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:28612237G>A	ENST00000434452.1	-	2	229	c.75C>T	c.(73-75)ttC>ttT	p.F25F	DSC3_ENST00000360428.4_Silent_p.F25F	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	25					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAGCACGACTGAAGATCTAGA	0.313000													7	31					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64792156	64792156	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr15:64792156G>A	ENST00000326648.3	+	1	666	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF609_ENST00000416172.1_Missense_Mutation_p.E180K	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	180						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTTGTTCAGAAAAGGATCC	0.557000													8	14					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154600395	154600395	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:154600395C>T	ENST00000292205.5	-	1	79	c.80G>A	c.(79-81)gGa>gAa	p.G27E	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCGCGACCCTCCCCCCACCCT	0.652000													42	6					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348356	89348356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:89348356C>A	ENST00000301030.4	-	9	5054	c.4594G>T	c.(4594-4596)Gag>Tag	p.E1532*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1532*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1532	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGAATTTCTCCTTCAGTTTG	0.582000													36	12					3.21399e-22	3.5128e-22	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048659	42048659	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:42048659C>G	ENST00000372584.1	-	3	2824	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E604Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E604Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E604Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	604	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)				CCAGGCTCCTCAGAACTGTAT	0.562000													24	47					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227413	35227413	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:35227413C>T	ENST00000339480.1	+	2	928	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	186					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGGTCTTCACCTACTTCA	0.577000													7	20					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820936	3820936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:3820936G>A	ENST00000262367.5	-	14	3324	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q801*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	839					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G837fs*10(1)|p.Q839*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGCTGGCCTGAGGCCCCAGC	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						41	23					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305827	27305827	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:27305827G>A	ENST00000380320.4	+	4	1887	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	463					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGGGGCGGTTGGATCTG	0.701000													4	17					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58156227	58156227	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:58156227C>T	ENST00000184956.6	-	1	65	c.49G>A	c.(49-51)Gag>Aag	p.E17K	HEATR6_ENST00000585976.1_Missense_Mutation_p.E17K|HEATR6_ENST00000585712.1_5'UTR	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	17							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGCGGTGCCTCCCGCGGCTGC	0.662000													3	18					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	9					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317432	30317432	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:30317432C>G	ENST00000375377.1	-	3	1746	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	549										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGGTGCTCTCGCCCTGTGAG	0.502000													36	51					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869647	52869647	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:52869647C>T	ENST00000601151.1	+	5	1339	c.887C>T	c.(886-888)aCg>aTg	p.T296M	ZNF610_ENST00000403906.3_Missense_Mutation_p.T339M|ZNF610_ENST00000327920.8_Missense_Mutation_p.T339M|ZNF610_ENST00000321287.8_Missense_Mutation_p.T339M	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAGTCACACGGCGGAAAAA	0.398000													32	35					0	0	1	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497389	39497389	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:39497389G>A	ENST00000442487.3	+	3	425	c.298G>A	c.(298-300)Gac>Aac	p.D100N	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.D100N|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.D100N|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.D100N	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	100					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CAAGGCTCACGACCATCTGAA	0.612000													11	18					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2818160	2818160	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:2818160C>T	ENST00000301740.8	+	11	8180	c.7631C>T	c.(7630-7632)tCt>tTt	p.S2544F	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2544	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						agctcctcctcttcttcatca	0.607000													19	7					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32463200	32463200	+	Splice_Site	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr8:32463200C>A	ENST00000341377.5	+	3	916	c.399C>A	c.(397-399)aaC>aaA	p.N133K	NRG1_ENST00000520407.1_Splice_Site_p.N348K|NRG1_ENST00000356819.4_Splice_Site_p.N133K|NRG1_ENST00000519301.1_Splice_Site_p.N112K|NRG1_ENST00000338921.4_Splice_Site_p.N133K|NRG1_ENST00000405005.3_Splice_Site_p.N133K|NRG1_ENST00000287845.5_Splice_Site_p.N133K|NRG1_ENST00000521670.1_Splice_Site_p.N133K|NRG1_ENST00000287842.3_Splice_Site_p.N133K|NRG1_ENST00000523079.1_Splice_Site_p.N133K	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	133					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.N133N(2)|p.N348N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGAATCAAACGGTAAGAGAT	0.393000													25	58					4.87955e-14	5.22654e-14	1	1	0
HAPLN4	404037	broad.mit.edu	37	19	19371875	19371875	+	Silent	SNP	G	G	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:19371875G>A	ENST00000291481.7	-	3	294	c.231C>T	c.(229-231)caC>caT	p.H77H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	77	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGTCGTGACCGTGGGCGGCTG	0.667000													18	24					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145158826	145158826	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:145158826C>G	ENST00000558170.2	-	7	2040	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	ZEB2_ENST00000303660.4_Missense_Mutation_p.E286Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E286Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E262Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	286						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGCCACACTCTGTGCATTTG	0.438000													20	54					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8383276	8383276	+	Silent	SNP	T	T	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:8383276T>C	ENST00000356406.5	-	14	1673	c.1596A>G	c.(1594-1596)aaA>aaG	p.K532K	ACOX3_ENST00000503233.1_Silent_p.K532K|ACOX3_ENST00000413009.2_Silent_p.K532K	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	532					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTGGTTTAATTTTTGATAAG	0.393000													22	70					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572201	53572201	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:53572201G>T	ENST00000601421.1	-	3	2354	c.1478C>A	c.(1477-1479)gCa>gAa	p.A493E	ZNF160_ENST00000418871.1_Missense_Mutation_p.A529E|ZNF160_ENST00000599056.1_Missense_Mutation_p.A529E|ZNF160_ENST00000429604.1_Missense_Mutation_p.A529E			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	529					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGAATGGATTGCCTGATGGGT	0.418000													18	65					2.39187e-15	2.58494e-15	1	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31948220	31948220	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr20:31948220C>T	ENST00000357886.4	-	14	1815	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.M463I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.M450I|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.M540I|CDK5RAP1_ENST00000544843.1_3'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	554	CDK5R1-binding.|TRAM.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGACATCCTCCATCTCTGCAT	0.522000													9	26					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57109759	57109759	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:57109759C>G	ENST00000454682.1	-	3	5836	c.5555G>C	c.(5554-5556)gGa>gCa	p.G1852A	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.G699A|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAAGGCACTCCCCCAGAGAT	0.572000			T	BCL6	NHL								10	33					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115480908	115480908	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:115480908G>C	ENST00000369321.2	+	4	647	c.327G>C	c.(325-327)aaG>aaC	p.K109N	CASP7_ENST00000369318.3_Missense_Mutation_p.K76N|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.K76N|CASP7_ENST00000369331.4_Missense_Mutation_p.K76N|CASP7_ENST00000345633.4_Missense_Mutation_p.K76N|CASP7_ENST00000452490.2_Missense_Mutation_p.K51N	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	76					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TAAACAACAAGAACTTTGATA	0.438000													37	44					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859643	46859643	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:46859643C>T	ENST00000262738.3	-	2	4143	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1382	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|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)		TAGCCGCCCTCGCGGCTGCGG	0.687000													3	1					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr16:56782202C>T	ENST00000569842.1	+	2	139	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517000													30	18					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357134	38357134	+	Missense_Mutation	SNP	G	G	C	rs116100457	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:38357134G>C	ENST00000273173.4	+	8	1555	c.1464G>C	c.(1462-1464)gaG>gaC	p.E488D	SLC22A14_ENST00000448498.1_Missense_Mutation_p.E488D	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	488						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)		TGCTCAGAGAGTTCAGCCTGG	0.612000													4	87					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779412	133779412	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr9:133779412C>T	ENST00000253018.4	-	6	1238	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	FIBCD1_ENST00000448616.1_3'UTR|FIBCD1_ENST00000372338.4_3'UTR|FIBCD1_ENST00000372337.2_3'UTR			Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	44					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGGGATGGGGCGACAGGGACC	0.637000													3	4					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482862	56482862	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr6:56482862C>T	ENST00000370765.6	-	23	6077	c.5970G>A	c.(5968-5970)ctG>ctA	p.L1990L	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1389					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGAATTGTTCAGGGCTTGGT	0.413000													25	53					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026656	65026656	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:65026656G>C	ENST00000262138.3	+	4	522	c.520G>C	c.(520-522)Gac>Cac	p.D174H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	174					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GCGGGACGAAGACAAAAAGAA	0.502000													35	51					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457714	3457714	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr18:3457714G>C	ENST00000472042.1	+	2	1519	c.535G>C	c.(535-537)Gat>Cat	p.D179H	TGIF1_ENST00000405385.3_Missense_Mutation_p.D179H|TGIF1_ENST00000551541.1_Missense_Mutation_p.D179H|TGIF1_ENST00000407501.2_Missense_Mutation_p.D199H|TGIF1_ENST00000548489.2_Missense_Mutation_p.D213H|TGIF1_ENST00000343820.5_Missense_Mutation_p.D199H|TGIF1_ENST00000345133.5_Missense_Mutation_p.D179H|TGIF1_ENST00000400167.2_Missense_Mutation_p.D179H|TGIF1_ENST00000401449.1_Missense_Mutation_p.D179H|TGIF1_ENST00000330513.5_Missense_Mutation_p.D328H			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	328					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				ACAAAACACAGATATACAGCA	0.478000													33	31					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5626756	5626756	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:5626756C>T	ENST00000380097.3	+	4	1035	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Silent_p.L62L|TRIM6_ENST00000380107.1_Silent_p.L211L|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L265L|TRIM6_ENST00000278302.5_Silent_p.L237L|TRIM6_ENST00000506134.1_Silent_p.L62L|TRIM6_ENST00000507320.1_Silent_p.L62L|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Silent_p.L62L	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CATCTCGGATCTGGAGCGTCG	0.507000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	19					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	229					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622000													30	34					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57716785	57716785	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:57716785G>C	ENST00000263095.6	+	3	595	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E61Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TCCCAAAGCTGAGCTGATCTG	0.512000													10	9					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96506724	96506724	+	Silent	SNP	C	C	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:96506724C>A	ENST00000376747.3	-	35	4084	c.4014G>T	c.(4012-4014)gtG>gtT	p.V1338V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1338	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GATCATGTCTCACAATCTAAA	0.343000													4	20					0.00024832	0.000251979	1	1	0
DHDDS	79947	broad.mit.edu	37	1	26795418	26795418	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:26795418G>C	ENST00000360009.2	+	9	878	c.801G>C	c.(799-801)aaG>aaC	p.K267N	DHDDS_ENST00000236342.7_Missense_Mutation_p.K266N|DHDDS_ENST00000526219.1_Missense_Mutation_p.K227N|DHDDS_ENST00000525682.2_Missense_Mutation_p.K232N	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	266							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGGAGCGGAAGAGGCAGCAGC	0.597000													4	22					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72699197	72699197	+	Silent	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr17:72699197C>T	ENST00000469092.1	-	4	708	c.432G>A	c.(430-432)ctG>ctA	p.L144L	CD300LF_ENST00000464910.1_Silent_p.L144L|CD300LF_ENST00000326165.6_Silent_p.L141L|CD300LF_ENST00000301573.9_Silent_p.L141L|CD300LF_ENST00000581500.1_Silent_p.L159L|CD300LF_ENST00000583937.1_Silent_p.L156L|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_Silent_p.L159L|CD300LF_ENST00000343125.4_Silent_p.L144L			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	141						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTGGCCGGTCAGAGTTGGGG	0.542000													20	33					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219506999	219506999	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:219506999C>T	ENST00000411696.2	-	7	5019	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N	ZNF142_ENST00000449707.1_Missense_Mutation_p.D1414N			P52746	ZN142_HUMAN	zinc finger protein 142	1414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCATCCCCATCTGAGGCTGCC	0.602000													29	48					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96271997	96271997	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr12:96271997C>T	ENST00000344280.3	-	13	1827	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	424										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGAGCATCTGAATTAAAT	0.348000													9	25					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75280054	75280054	+	Silent	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr11:75280054C>G	ENST00000524558.1	+	4	2227	c.792C>G	c.(790-792)ctC>ctG	p.L264L	SERPINH1_ENST00000358171.3_Silent_p.L264L|SERPINH1_ENST00000525876.1_Silent_p.L47L|SERPINH1_ENST00000530284.1_Silent_p.L264L|SERPINH1_ENST00000533603.1_Silent_p.L264L			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	264					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCACAAGCTCTCCAGCCTCA	0.562000													24	25					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108127249	108127249	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr3:108127249C>G	ENST00000273353.3	-	33	4614	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1520						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTAGAAATCTCTTCTGGAGAC	0.413000													21	29					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36551484	36551484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:36551484delG	ENST00000207457.3	+	4	457	c.330delG	c.(328-330)ctgfs	p.L110fs		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	110					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCTGCCTCTGGATGTGGCCA	0.577													18	14	---	---	---	---					
ALDH9A1	223	broad.mit.edu	37	1	165649804	165649805	+	In_Frame_Ins	INS	-	-	CCCTCA			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr1:165649804_165649805insCCCTCA	ENST00000354775.4	-	5	1012_1013	c.708_709insTGAGGG	c.(706-711)ggggct>gggTGAGGGgct	p.235_236insG*	ALDH9A1_ENST00000538148.1_In_Frame_Ins_p.141_142insG*|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	211					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CCTGTGGCAGCCCCTCCCTGCA	0.520													32	84	---	---	---	---					
SOS1	6654	broad.mit.edu	37	2	39222399	39222399	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:39222399delT	ENST00000426016.1	-	21	3297	c.3211delA	c.(3211-3213)agtfs	p.S1071fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1071fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1071fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1071					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTGTTTCACTTTCAGGGATC	0.488									Noonan syndrome				25	104	---	---	---	---					
PARD3B	117583	broad.mit.edu	37	2	206480199	206480199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr2:206480199delG	ENST00000406610.2	+	23	3487	c.3280delG	c.(3280-3282)gtafs	p.V1094fs	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Frame_Shift_Del_p.V1025fs|PARD3B_ENST00000349953.3_Frame_Shift_Del_p.V993fs|PARD3B_ENST00000358768.2_Frame_Shift_Del_p.V1032fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1094					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGCAGATCCTGTAGACTATCT	0.567													54	43	---	---	---	---					
SEC24B	10427	broad.mit.edu	37	4	110384059	110384059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr4:110384059delC	ENST00000265175.5	+	2	191	c.136delC	c.(136-138)ccafs	p.P46fs	SEC24B_ENST00000399100.2_Frame_Shift_Del_p.P46fs|SEC24B_ENST00000504968.2_Frame_Shift_Del_p.P77fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	46					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTTTCAGGTCCAGCCCAGAA	0.353													15	41	---	---	---	---					
ELOVL7	79993	broad.mit.edu	37	5	60060150	60060151	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr5:60060150_60060151insA	ENST00000505959.1	-	9	889_890	c.363_364insT	c.(361-366)tttgttfs	p.V122fs	ELOVL7_ENST00000438340.1_Frame_Shift_Ins_p.V135fs|ELOVL7_ENST00000508821.1_Frame_Shift_Ins_p.V135fs|ELOVL7_ENST00000425382.1_Frame_Shift_Ins_p.V135fs			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	135					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTGCGCAGAACAAAAAAGATCT	0.342													8	30	---	---	---	---					
HK1	3098	broad.mit.edu	37	10	71142268	71142269	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr10:71142268_71142269insTT	ENST00000448642.2	+	15	1785_1786	c.1396_1397insTT	c.(1396-1398)ctafs	p.L466fs	HK1_ENST00000359426.6_Frame_Shift_Ins_p.L431fs|HK1_ENST00000298649.3_Frame_Shift_Ins_p.L430fs|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Frame_Shift_Ins_p.L419fs|HK1_ENST00000404387.2_Frame_Shift_Ins_p.L435fs			P19367	HXK1_HUMAN	hexokinase 1	431	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCACAAGACTCTAAGGCGCTTG	0.614													22	21	---	---	---	---					
XPO4	64328	broad.mit.edu	37	13	21383360	21383369	+	Splice_Site	DEL	GCAGTCTATT	GCAGTCTATT	-	rs9552285	byFrequency	TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:21383360_21383369delGCAGTCTATT	ENST00000400602.2	-	11	1386_1390	c.1351_1355delAATAGACTGC	c.(1351-1356)aataga>a	p.NR451fs	XPO4_ENST00000255305.6_Splice_Site_p.NR451fs	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	451			T -> A (in dbSNP:rs9552285).		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)		CACACCATTGGCAGTCTATTGCAAGTAAAA	0.433													10	39	---	---	---	---					
PIBF1	10464	broad.mit.edu	37	13	73468075	73468076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr13:73468075_73468076insA	ENST00000326291.6	+	11	1814_1815	c.1476_1477insA	c.(1477-1479)aaafs	p.K493fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	493						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAATATCAGAAAAAATTGGA	0.332													25	48	---	---	---	---					
ZNF559	84527	broad.mit.edu	37	19	9452027	9452028	+	Frame_Shift_Del	DEL	CT	CT	-	rs55837495		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr19:9452027_9452028delCT	ENST00000592504.1	+	6	665_666	c.410_411delCT	c.(409-411)actfs	p.T137fs	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000446085.4_Intron			Q9BR84	ZN559_HUMAN	zinc finger protein 559	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGACAAACACTCTAAACATCC	0.347													4	3	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-CF-A47X-01A-31D-A23U-08	TCGA-CF-A47X-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0160cd38-2895-40ee-9de5-d4cf438f42b2	943e82ed-c873-453f-9090-18f68574552e	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													8	51	---	---	---	---					
