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
ZNF426	79088	broad.mit.edu	37	19	9639182	9639182	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9639182G>A	ENST00000593003.1	-	6	1902	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	ZNF426_ENST00000535489.1_Silent_p.F513F|ZNF426_ENST00000253115.2_Silent_p.F513F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAACACGTGAAGGCTTTCC	0.428000													22	81					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941198	52941198	+	Missense_Mutation	SNP	G	G	A	rs143625963	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52941198G>A	ENST00000371544.3	-	13	2295	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S678L|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	678	PAP-associated 1.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCTCTTGACTGAAAATGGATC	0.393000													8	22					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828237	1828237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:1828237G>A	ENST00000170168.4	-	2	645	c.551C>T	c.(550-552)tCc>tTc	p.S184F	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	184						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTCCAGGGACGCCAGCGA	0.716000													7	32					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85770102	85770102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770102G>C	ENST00000306434.3	+	8	1153	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	MAT2A_ENST00000409017.1_Missense_Mutation_p.E281Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	344					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGTGAGAGAGAGCTATTAGA	0.408000													17	61					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578284	9578284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9578284G>C	ENST00000301480.4	-	10	1552	c.1339C>G	c.(1339-1341)Ctt>Gtt	p.L447V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTCCAAAAAGAGATGGGTAA	0.403000													32	101					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731904	6731904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731904C>G	ENST00000405858.1	-	5	1210	c.669G>C	c.(667-669)caG>caC	p.Q223H	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Q149H|ZNF12_ENST00000342651.5_Missense_Mutation_p.Q185H	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	223					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGAAGGCTTTCTGGCATTCAA	0.348000													3	26					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164769035	164769035	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:164769035A>C	ENST00000420696.2	+	4	798	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	PBX1_ENST00000559240.1_Missense_Mutation_p.I204L|PBX1_ENST00000560641.1_Missense_Mutation_p.I99L|PBX1_ENST00000367897.1_Missense_Mutation_p.I204L|PBX1_ENST00000540246.1_Missense_Mutation_p.I99L|PBX1_ENST00000540236.1_Missense_Mutation_p.I204L|PBX1_ENST00000401534.1_Missense_Mutation_p.I204L	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	204					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGTCAGCATCATCCACCGCAA	0.587000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								15	52					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38966820	38966820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:38966820G>C	ENST00000357387.3	-	15	1252	c.1222C>G	c.(1222-1224)Cta>Gta	p.L408V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L408V	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	408					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACTTCAACTAGACCCTTTGAA	0.274000													8	19					0	0	1	0	0
TSACC	128229	broad.mit.edu	37	1	156316677	156316677	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156316677G>A	ENST00000481479.1	+	4	632	c.271G>A	c.(271-273)Gac>Aac	p.D91N	TSACC_ENST00000368253.2_Silent_p.V94V|TSACC_ENST00000368254.1_Silent_p.V94V|TSACC_ENST00000466306.1_Missense_Mutation_p.D91N|TSACC_ENST00000368255.3_Silent_p.V94V|TSACC_ENST00000368252.1_Silent_p.V94V|TSACC_ENST00000470342.1_Missense_Mutation_p.D91N|TSACC_ENST00000368251.1_Silent_p.V94V					TSSK6 activating co-chaperone																		AGGCATCTGTGACACAACTGG	0.468000													32	102					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824374	74824374	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74824374C>G	ENST00000256362.4	+	2	1129	c.888C>G	c.(886-888)ttC>ttG	p.F296L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	296					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AAAGCACCTTCTACCGCTGGC	0.647000													33	89					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208934	1208934	+	Silent	SNP	C	C	T	rs146678323	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1208934C>T	ENST00000304460.10	+	2	332	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	92					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGTTCGCCATCGGGCAGCGGC	0.667000													36	82					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049482	23049482	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049482C>T	ENST00000221132.3	-	10	1196	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	378	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCAGGAGTCAAAGGGCACG	0.527000													19	60					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26031895G>C	ENST00000244661.2	-	1	393	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478000													32	57					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889344	30889344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30889344C>T	ENST00000475541.1	-	1	1887	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	319						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CTCATCTCTTCTTCATACTTG	0.403000													4	3					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7773074	7773074	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:7773074G>A	ENST00000338316.4	+	18	2333	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADCY2_ENST00000537121.1_Silent_p.L568L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	748					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTGGGACTGATATCCTGTT	0.463000													41	116					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32575725	32575725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:32575725C>T	ENST00000319778.6	-	9	1590	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	EPC1_ENST00000263062.8_Missense_Mutation_p.D430N|EPC1_ENST00000375110.2_Missense_Mutation_p.D380N	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	430					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AATCCTCCATCTTTAGGACTA	0.418000													9	37					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671526	186671526	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:186671526C>T	ENST00000343098.5	+	17	17760	c.17760C>T	c.(17758-17760)ctC>ctT	p.L5920L	FSIP2_ENST00000424728.1_Silent_p.L5831L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTATGAAACTCATCAATTCAC	0.368000													10	39					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162609	48162609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48162609G>A	ENST00000311303.3	-	9	1621	c.1276C>T	c.(1276-1278)Caa>Taa	p.Q426*	ABCC12_ENST00000448542.1_Nonsense_Mutation_p.Q426*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.Q426*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	426						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTCTGGTTGGGTGATGTAA	0.413000													27	90					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149264428	149264428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149264428G>C	ENST00000255266.5	-	15	1960	c.1841C>G	c.(1840-1842)tCc>tGc	p.S614C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	614					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGTTCTGGGATCTGAATGA	0.468000													16	56					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999280	72999280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:72999280G>A	ENST00000322038.5	+	2	2367	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	TSHZ1_ENST00000580243.1_Missense_Mutation_p.E640K	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	640						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCTGCCATGGAGGAGCTGGT	0.637000													17	83					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:21822578C>T	ENST00000216297.2	-	23	3120	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	928	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478000													8	52					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11586617	11586617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:11586617C>A	ENST00000381525.3	-	7	1101	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	E2F6_ENST00000546212.1_Nonsense_Mutation_p.E203*|E2F6_ENST00000307236.4_Nonsense_Mutation_p.E246*|E2F6_ENST00000542100.1_Nonsense_Mutation_p.E203*|E2F6_ENST00000362009.4_3'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	278	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TTGCTTACTTCAAGCAATTCT	0.363000													12	34					0.0931896	0.0935756	1	1	0
ITPKC	80271	broad.mit.edu	37	19	41235160	41235160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41235160G>C	ENST00000263370.2	+	3	1342	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	437						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGTCAGTGTGAGCAGCGCAG	0.532000													14	56					0	0	1	0	0
C2orf68	388969	broad.mit.edu	37	2	85836187	85836187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85836187C>T	ENST00000306336.5	-	4	426	c.382G>A	c.(382-384)Gat>Aat	p.D128N	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	128										breast(1)|central_nervous_system(1)|endometrium(1)	3						CCTGGGTCATCACCCTACGTG	0.552000													17	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9083542G>A	ENST00000397910.4	-	1	8476	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2758	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATACAAGGGAACCAGTAGT	0.488000													19	57					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9988025	9988025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9988025C>T	ENST00000412055.1	-	4	2961	c.2832G>A	c.(2830-2832)ccG>ccA	p.P944P		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	944						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGCTGGGGTCGGGGCAGGCA	0.662000													20	49					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78695757	78695757	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78695757G>A	ENST00000504123.1	-	3	371	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	CNOT6L_ENST00000264903.4_Silent_p.L81L|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	81					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGGTAAACCAGATTATGAAGC	0.418000													8	30					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625437	154625437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154625437G>C	ENST00000260010.6	+	1	2786	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	460					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGACACTGGAAATTTTAGA	0.358000													26	56					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50310680	50310680	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:50310680C>T	ENST00000418948.1	+	0	898							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTCTCGCATCAGGAGGCAAG	0.622000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75513113	75513113	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75513113C>T	ENST00000355774.2	-	2	3461	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	MLH3_ENST00000238662.7_Silent_p.L1082L|MLH3_ENST00000380968.2_Silent_p.L28L|MLH3_ENST00000544985.1_Silent_p.L77L|MLH3_ENST00000556740.1_Silent_p.L1082L|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Silent_p.L1082L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1082					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCACAGTTGTCAGGTCTTTAG	0.438000								Mismatch excision repair (MMR)					25	75					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5022040	5022040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:5022040C>G	ENST00000381652.3	+	3	547	c.53C>G	c.(52-54)tCt>tGt	p.S18C	JAK2_ENST00000539801.1_Missense_Mutation_p.S18C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	18	Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TCCACCTCTTCTATATATCAG	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				24	77					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198281	81198281	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81198281G>A	ENST00000533478.1	-	0	1368				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCGCCCTCCAGAGAGCTGAGG	0.582000													27	89					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50035705	50035705	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50035705C>T	ENST00000548825.2	+	19	1937	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Intron|PRPF40B_ENST00000380281.1_Silent_p.C572C	NM_001031698.2	NP_001026868.2	Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	572					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGGGCTTCTGCGTGGAGGTGA	0.577000													19	79					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78649360	78649360	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:78649360C>G	ENST00000436010.2	-	28	5724	c.4727G>C	c.(4726-4728)aGa>aCa	p.R1576T	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1570T|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1615T|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1515T			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1615					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTTTGTCTGCTTCCTGA	0.383000													14	39					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121354648	121354648	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121354648C>T	ENST00000314583.3	-	9	716	c.625G>A	c.(625-627)Gct>Act	p.A209T	HCLS1_ENST00000428394.2_Missense_Mutation_p.A172T|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	209					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGCCGACAGCGCTCTGCAGG	0.557000													27	70					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415224	34415224	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34415224C>G	ENST00000591619.1	+	3	896	c.110C>G	c.(109-111)tCa>tGa	p.S37*	KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.S41*|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.S41*			Q86T90	K1328_HUMAN	KIAA1328	41										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AATGTCAGATCAAGACACAAG	0.393000													17	56					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612712	142612712	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142612712G>A	ENST00000265310.1	-	9	1497	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	383					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCAGCCTGATGATATCTTCAC	0.527000													16	50					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55270282	55270282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:55270282G>A	ENST00000275493.2	+	27	3412	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	EGFR_ENST00000454757.2_Missense_Mutation_p.E1026K|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E1034K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1079					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCCTTGACTGAGGACAGCAT	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			8	18					0	0	1	0	0
TAS2R43	259289	broad.mit.edu	37	12	11244734	11244734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:11244734G>A	ENST00000531678.1	-	1	178	c.95C>T	c.(94-96)tCc>tTc	p.S32F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	32					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCACTCAATGGAATTTACCAG	0.388000													12	52					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415185	105415185	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105415185G>A	ENST00000333244.5	-	7	6722	c.6603C>T	c.(6601-6603)ctC>ctT	p.L2201L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2201						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)			GCTGAATGCTGAGGTCAGTGG	0.637000													78	135					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446884	10446884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10446884G>A	ENST00000326756.3	-	3	1507	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACAAGCTGCTGTGTACCATTG	0.453000													36	105					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148512132	148512132	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148512132C>G	ENST00000320356.2	-	14	1668		c.e14-1		EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000460911.1_Splice_Site|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000541220.1_Intron	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)						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)			GAGGAGCCGTCTGAGTAAAGA	0.443000			Mis		DLBCL								8	25					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3945848	3945848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3945848C>G	ENST00000381638.2	-	39	6305	c.6181G>C	c.(6181-6183)Gaa>Caa	p.E2061Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2061							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGACACTTCTGAATCTTCA	0.448000													22	63					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005461	101005461	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005461G>A	ENST00000556751.1	-	5	3839	c.435C>T	c.(433-435)ttC>ttT	p.F145F	BEGAIN_ENST00000443071.2_Silent_p.F209F|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000355173.2_Silent_p.F209F			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	209						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCCCGTCGCAGAAGGCCAGGT	0.692000													10	29					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207697	58207697	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:58207697C>G	ENST00000377918.3	+	1	1043	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	339	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGTCACGGTCAAGCTCATCG	0.642000													42	108					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087340	117087340	+	Missense_Mutation	SNP	G	G	C	rs143596557		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117087340G>C	ENST00000259396.8	+	5	526	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	150					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TGACAAGCCAGAGACGACCAA	0.612000													18	61					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205258	56205258	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:56205258C>T	ENST00000361673.3	-	5	2374	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	721							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTGTTTTTCTTCATGCTGT	0.448000													48	138					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059829	12059829	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12059829G>C	ENST00000482090.1	+	3	1354	c.936G>C	c.(934-936)ggG>ggC	p.G312G	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.G330G			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCCACTCTGGGAAAAAACCGT	0.373000													20	57					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87622524	87622524	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87622524C>G	ENST00000436978.1	+	7	1245	c.765C>G	c.(763-765)ttC>ttG	p.F255L	PTPN13_ENST00000427191.2_Missense_Mutation_p.F255L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F255L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F255L|PTPN13_ENST00000411767.2_Missense_Mutation_p.F255L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	255						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAATTATTTCAAGGACATTT	0.378000													5	15					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:43826205G>A	ENST00000389420.3	-	21	2997	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1000C|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R154C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1000	TSP type-1 4.		R -> H (in dbSNP:rs7297737).			proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCAGCAAGACGATGGCCAAAG	0.433000													18	70					0	0	1	0	0
TOMM20	9804	broad.mit.edu	37	1	235277211	235277211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:235277211C>T	ENST00000366607.4	-	4	485	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	TOMM20_ENST00000467767.1_5'UTR	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	89					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TGGTCTACGCCCTTCTCATAT	0.418000													24	55					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37498107	37498107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:37498107G>A	ENST00000377792.3	+	8	1246	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	POLR1E_ENST00000377798.4_Missense_Mutation_p.E258K|POLR1E_ENST00000442009.2_Missense_Mutation_p.E188K			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	320					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CTTTGTCATAGAAGCGTTGAA	0.483000													27	54					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27066474	27066474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27066474C>T	ENST00000261191.7	-	14	2257	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	ASUN_ENST00000539625.1_Missense_Mutation_p.G473E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	574					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CCTCTTTCTTCCTCGTTTCTT	0.448000													67	234					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57181045	57181045	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:57181045C>T	ENST00000554643.1	+	6	1222	c.873C>T	c.(871-873)ttC>ttT	p.F291F	HSD17B6_ENST00000322165.1_Silent_p.F291F|HSD17B6_ENST00000555805.1_Silent_p.F291F|HSD17B6_ENST00000555159.1_Silent_p.F291F|HSD17B6_ENST00000554150.1_Silent_p.F291F			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	291					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AATTTTTCTTCATCCCTCTAT	0.473000													11	46					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62397394	62397394	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62397394C>T	ENST00000346178.4	-	15	1710	c.1695G>A	c.(1693-1695)atG>atA	p.M565I	GANAB_ENST00000534779.1_Missense_Mutation_p.M451I|GANAB_ENST00000540933.1_Missense_Mutation_p.M446I|GANAB_ENST00000356638.3_Missense_Mutation_p.M543I	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	543					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						ATGGTTCGTTCATGTCATTCC	0.537000													20	85					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201079390C>G	ENST00000362061.3	-	2	386	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E54Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	54					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577000													26	70					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196791	108196791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108196791G>T	ENST00000278616.4	+	47	7199	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	ATM_ENST00000452508.2_Nonsense_Mutation_p.E2272*|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2272	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGCTCCCTGAAAGGGCAAT	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	34					0.00621372	0.00627286	1	1	0
CCR10	2826	broad.mit.edu	37	17	40831760	40831760	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831760G>A	ENST00000591765.1	-	2	1619	c.234C>T	c.(232-234)ctC>ctT	p.L78L	CCR10_ENST00000332438.4_Silent_p.L300L			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	300						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACAGCGGGCGAGGGCCAAGC	0.682000													6	35					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83173066	83173066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83173066C>T	ENST00000398309.2	-	22	2955	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	DLG2_ENST00000404783.3_Missense_Mutation_p.E307K|DLG2_ENST00000280241.8_Missense_Mutation_p.E868K|DLG2_ENST00000532653.1_Missense_Mutation_p.E811K|DLG2_ENST00000524982.1_Missense_Mutation_p.E825K|DLG2_ENST00000543673.1_Missense_Mutation_p.E934K|DLG2_ENST00000376106.3_Missense_Mutation_p.E293K|DLG2_ENST00000330014.6_Missense_Mutation_p.E750K|DLG2_ENST00000418306.2_Missense_Mutation_p.E708K|DLG2_ENST00000537455.1_Missense_Mutation_p.E579K|DLG2_ENST00000531015.1_Missense_Mutation_p.E796K|DLG2_ENST00000376104.2_Missense_Mutation_p.E934K|DLG2_ENST00000426717.2_Missense_Mutation_p.E293K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	829	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTCCAAATTCTTGTTCTAGC	0.408000													9	35					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16073402	16073402	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16073402G>A	ENST00000375782.1	+	5	936	c.798G>A	c.(796-798)caG>caA	p.Q266Q	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	266	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGTGCAGACGGTGCTGG	0.682000													6	24					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995455	32995455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:32995455G>A	ENST00000330953.5	+	2	709	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	181					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTGTTATACTGAGCGCAACCA	0.507000													28	92					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865855	52865855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:52865855C>T	ENST00000252250.6	-	2	797	c.750G>A	c.(748-750)aaG>aaA	p.K250K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	250	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTCACTTGTTCTTGAGGTCCT	0.547000													28	97					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114976330	114976330	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114976330G>C	ENST00000358465.2	-	5	1032	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	TRIM33_ENST00000369543.2_Missense_Mutation_p.Q317E|TRIM33_ENST00000450349.2_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	317	Necessary for oligomerization.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGATTTTGAAAAGCTTCT	0.313000			T	RET	papillary thyroid								11	26					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13383323	13383323	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:13383323G>A	ENST00000254508.5	-	23	3235	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1051					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTCTGGCCGATGGCCACAC	0.522000													14	50					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982976	123982976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:123982976G>C	ENST00000306315.5	-	4	3536	c.3101C>G	c.(3100-3102)tCt>tGt	p.S1034C	ZNF608_ENST00000504926.1_Missense_Mutation_p.S607C	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1034						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTTCCTCAGACTCCTTCTT	0.493000													43	134					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892360	74892360	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:74892360G>A	ENST00000241436.4	+	13	2014	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	POLK_ENST00000508526.1_Silent_p.E416E|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.E524E|POLK_ENST00000352007.5_Silent_p.E416E|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	614					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAATATCAGAGAATTCAGATG	0.368000								DNA polymerases (catalytic subunits)					18	103					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236541	26236541	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26236541C>G	ENST00000354667.4	-	5	565	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E121Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	133	RRM 2.				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						CCATATTCCTCAAAGTAATCT	0.383000			T	ETV1	prostate								43	90					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47384267	47384267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47384267G>C	ENST00000232766.5	+	9	1305	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	KLHL18_ENST00000455924.2_Missense_Mutation_p.E317Q	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	429										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TACAGTCTTTGAGGGCAGGAT	0.512000													22	53					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68548244	68548244	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:68548244G>C	ENST00000502604.1	+	2	337		c.e2-1		CDK7_ENST00000256443.3_Splice_Site|CDK7_ENST00000513629.1_Splice_Site|CDK7_ENST00000514676.1_Splice_Site			P50613	CDK7_HUMAN	cyclin-dependent kinase 7						androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTTTCTACCAGATCAAACTTG	0.259000								Nucleotide excision repair (NER)					32	116					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220474164	220474164	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220474164G>A	ENST00000456909.1	+	17	2096	c.2006G>A	c.(2005-2007)aGa>aAa	p.R669K	STK11IP_ENST00000295641.10_Missense_Mutation_p.R680K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	680					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTGGGTAGATTCCAGTGT	0.582000													5	20					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063340	76063340	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063340T>C	ENST00000260045.3	-	5	959	c.854A>G	c.(853-855)gAa>gGa	p.E285G		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	285					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTTATGAGATTCATCAACAAA	0.428000													6	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56507261	56507261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:56507261C>T	ENST00000370754.5	-	15	1719	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	DST_ENST00000312431.6_Missense_Mutation_p.D396N|DST_ENST00000370788.2_Missense_Mutation_p.D396N|DST_ENST00000421834.2_Missense_Mutation_p.D396N|DST_ENST00000518935.1_Missense_Mutation_p.D70N|DST_ENST00000446842.2_Missense_Mutation_p.D70N|DST_ENST00000370765.6_Missense_Mutation_p.D70N|DST_ENST00000244364.6_Missense_Mutation_p.D70N|DST_ENST00000370769.4_Missense_Mutation_p.D396N|DST_ENST00000361203.3_Missense_Mutation_p.D396N			Q03001	DYST_HUMAN	dystonin	396					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)			ATGACACTGTCCCTCTGAACT	0.403000													11	58					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114168699	114168699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:114168699G>A	ENST00000535401.1	+	4	445	c.181G>A	c.(181-183)Gac>Aac	p.D61N	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.D61N|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	61					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTGCTGATTGACATCGGCTC	0.507000													15	85					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47073976	47073976	+	Nonsense_Mutation	SNP	C	C	T	rs14051		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47073976C>T	ENST00000395460.2	+	3	225	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C11orf49_ENST00000378615.3_Nonsense_Mutation_p.R63*|C11orf49_ENST00000278460.7_Nonsense_Mutation_p.R63*|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Nonsense_Mutation_p.R63*	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	63								p.R63*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CATTCTCTTTCGAGAATTCAG	0.453000													50	134					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345239	224345239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345239G>C	ENST00000366862.5	+	5	941	c.898G>C	c.(898-900)Gac>Cac	p.D300H	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	300										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCAAGACCAGGACCAGAAACT	0.473000													32	158					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36953855	36953855	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:36953855C>T	ENST00000282516.8	+	2	556	c.57C>T	c.(55-57)ctC>ctT	p.L19L	NIPBL_ENST00000448238.2_Silent_p.L19L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	19					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCTAGTCTCACAGACCGTA	0.348000													19	52					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209203277	209203277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:209203277C>T	ENST00000264380.4	+	29	4815	c.4657C>T	c.(4657-4659)Cag>Tag	p.Q1553*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1553					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCAGGACTTCAGAATGGAGA	0.348000													8	35					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205280856	205280856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:205280856G>A	ENST00000367157.3	-	2	455	c.329C>T	c.(328-330)cCt>cTt	p.P110L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	110	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AATGATGTGAGGGTGGTTGAG	0.473000													12	49					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54294335	54294335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:54294335C>G	ENST00000337488.6	+	13	1353	c.1159C>G	c.(1159-1161)Ctg>Gtg	p.L387V	FIP1L1_ENST00000358575.5_Missense_Mutation_p.L372V|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L313V|FIP1L1_ENST00000507922.1_Missense_Mutation_p.L372V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	387	Pro-rich.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCTCCACCTCTGATTCCACC	0.423000			T	PDGFRA	idiopathic hypereosinophilic syndrome								13	56					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672247	61672247	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61672247G>A	ENST00000394836.2	-	6	922	c.765C>T	c.(763-765)tgC>tgT	p.C255C	RAB3IL1_ENST00000301773.5_Silent_p.C229C	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	255							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TGAAGTCCAGGCAGGGGCCCA	0.662000													3	23					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	G	rs143103700	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:112671523C>G	ENST00000441065.2	+	3	925	c.613C>G	c.(613-615)Cgc>Ggc	p.R205G		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	205	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448000													21	50					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21327958	21327958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:21327958G>A	ENST00000313654.9	+	3	740	c.499G>A	c.(499-501)Gat>Aat	p.D167N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D167N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	167	Laminin N-terminal.				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)	TCCTCGCCCTGATCTTTGGGT	0.388000													21	68					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63545744	63545744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63545744G>A	ENST00000307078.5	-	3	1163	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	AXIN2_ENST00000375702.5_Missense_Mutation_p.H284Y|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	284					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GAACCTATGTGATAAGGATTA	0.502000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				6	23					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19576463	19576463	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:19576463G>A	ENST00000339618.4	+	10	1664		c.e10-1		ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000574597.1_Splice_Site|ALDH3A2_ENST00000581518.1_Splice_Site|ALDH3A2_ENST00000176643.6_Intron	NM_001031806.1	NP_001026976.1	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2						cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GGTTTTCTCAGAAATACCAAG	0.413000													66	213					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215875150	215875150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:215875150C>G	ENST00000272895.7	-	18	2596	c.2377G>C	c.(2377-2379)Gct>Cct	p.A793P	ABCA12_ENST00000389661.4_Missense_Mutation_p.A475P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	793					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGGTCCAGCGGGCATGTTA	0.373000													10	27					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603660	28603660	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28603660C>T	ENST00000533150.1	-	3	1716	c.600G>A	c.(598-600)aaG>aaA	p.K200K	SULT1A2_ENST00000335715.4_Silent_p.K233K|SULT1A2_ENST00000395630.1_Silent_p.K233K			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	233					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TAGGGTTCTTCTTCATCTCCT	0.567000													46	182					0	0	1	0	0
CRYBA1	1411	broad.mit.edu	37	17	27579109	27579109	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:27579109C>T	ENST00000225387.3	+	4	244	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	81	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATACCAGCTTCTGTGGGCAAC	0.502000											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	95					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94808168	94808168	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:94808168C>G	ENST00000453321.3	+	18	1871	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	TMEM67_ENST00000409623.3_Missense_Mutation_p.Q524E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	605					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AATGCCAATTCAGGAAGAACG	0.343000													30	71					0	0	1	0	0
ELFN1	392617	broad.mit.edu	37	7	1785913	1785913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:1785913G>A	ENST00000424383.2	+	3	2168	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	ELFN1_ENST00000541472.1_Missense_Mutation_p.E539K|ELFN1_ENST00000561626.1_Missense_Mutation_p.E561K					extracellular leucine-rich repeat and fibronectin type III domain containing 1											endometrium(1)	1						CATCGCCAAGGAGGTGGACAA	0.657000													5	9					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124065295	124065295	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124065295C>T	ENST00000373823.3	+	11	1208	c.303C>T	c.(301-303)ttC>ttT	p.F101F	GSN_ENST00000449733.1_Silent_p.F101F|GSN_ENST00000341272.2_Silent_p.F101F|GSN_ENST00000373808.2_Silent_p.F101F|GSN_ENST00000394353.2_Silent_p.F112F|GSN_ENST00000436847.1_Silent_p.F112F|GSN_ENST00000412819.1_Silent_p.F101F|GSN_ENST00000373818.4_Silent_p.F152F|GSN_ENST00000545652.1_Silent_p.F109F			P06396	GELS_HUMAN	gelsolin	152	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCCAGGGCTTCGAGTCGGCCA	0.617000													28	112					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348114	180348114	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:180348114G>C	ENST00000410066.1	-	6	1158	c.555C>G	c.(553-555)gtC>gtG	p.V185V	ZNF385B_ENST00000409692.1_Silent_p.V83V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.V109V|ZNF385B_ENST00000336917.5_Silent_p.V83V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	185						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTAGTGCTTTGACCTTCTTGG	0.458000													10	66					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294428	62294428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62294428C>T	ENST00000378024.4	-	5	7735	c.7461G>A	c.(7459-7461)atG>atA	p.M2487I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2487					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTGATGTTCATATCTGGTA	0.478000													75	165					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37113903	37113903	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37113903T>A	ENST00000263918.4	-	8	1006	c.998A>T	c.(997-999)aAg>aTg	p.K333M	STRN_ENST00000379213.2_Intron	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	333					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTATTGTTCCTTGAGTTTGGT	0.403000													20	76					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861684	55861684	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55861684C>G	ENST00000302124.2	+	1	932	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAATGCTCTTCTGAGAGTCAT	0.388000													7	21					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47224014	47224014	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:47224014G>C	ENST00000391910.3	-	17	2578	c.2128C>G	c.(2128-2130)Ctg>Gtg	p.L710V	STRN4_ENST00000263280.6_Missense_Mutation_p.L703V|STRN4_ENST00000539396.1_Missense_Mutation_p.L584V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	703						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CAGAGACGCAGGGAGCAGTCA	0.637000													10	57					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985102	62985102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62985102G>T	ENST00000403374.2	-	4	417	c.114C>A	c.(112-114)ttC>ttA	p.F38L	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.F204L			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	204					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCCCAGCCAAGAAGCGCAGGG	0.473000													10	46					1.58986e-06	1.64012e-06	1	1	0
WNK1	65125	broad.mit.edu	37	12	1005785	1005785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:1005785G>C	ENST00000537687.1	+	24	7555	c.6912G>C	c.(6910-6912)caG>caC	p.Q2304H	WNK1_ENST00000340908.4_Missense_Mutation_p.Q1637H|WNK1_ENST00000535572.1_Missense_Mutation_p.Q1796H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2542H|WNK1_ENST00000315939.6_Missense_Mutation_p.Q2044H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2044					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCTAGCCAGAATCTAAGTC	0.463000													12	41					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47706100	47706100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:47706100G>A	ENST00000262982.2	+	19	2121	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	CSE1L_ENST00000396192.3_Silent_p.V610V|CSE1L_ENST00000542325.1_Silent_p.V449V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	666					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCTTTCAAGTGATGTCTTTGC	0.413000													14	67					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959628	117959628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:117959628C>G	ENST00000310164.2	+	4	928	c.421C>G	c.(421-423)Caa>Gaa	p.Q141E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cctacaagctcaaggggagaa	0.478000													57	67					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185143554	185143554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:185143554C>T	ENST00000367500.4	+	5	440	c.275C>T	c.(274-276)tCa>tTa	p.S92L	SWT1_ENST00000367501.3_Missense_Mutation_p.S92L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	92										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ATCGGTTCTTCATCCCAAAGA	0.313000													3	17					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122441644	122441644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122441644G>A	ENST00000288912.4	+	22	4278	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1142							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACCATTTCAGAAGATTCCGG	0.433000													16	58					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130464012	130464012	+	Missense_Mutation	SNP	C	C	G	rs143147652		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:130464012C>G	ENST00000356763.3	-	2	608	c.51G>C	c.(49-51)gaG>gaC	p.E17D		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	17					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAAAATAACTCTCTACAGAAA	0.438000													15	40					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111492647	111492647	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111492647C>T	ENST00000369763.4	-	3	2085	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	LRIF1_ENST00000494675.1_Silent_p.K29K|LRIF1_ENST00000485275.2_Silent_p.K29K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGCATCACTCTTCAGATGTA	0.383000													16	61					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146234923	146234923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:146234923C>T	ENST00000342435.4	-	8	1180	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PLSCR1_ENST00000487389.1_Missense_Mutation_p.G250D|PLSCR1_ENST00000448787.2_Missense_Mutation_p.G176D|PLSCR1_ENST00000484560.1_5'UTR|PLSCR1_ENST00000448205.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	257					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGAAATTTTGCCAACCACACA	0.318000													4	68					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906347	139906347	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139906347G>A	ENST00000265662.5	-	35	5631	c.5484C>T	c.(5482-5484)gtC>gtT	p.V1828V	ABCA2_ENST00000371605.3_Silent_p.V1827V|ABCA2_ENST00000341511.6_Silent_p.V1828V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1827					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCAGCCGCTGACAAACTGCA	0.627000													8	25					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44576463	44576463	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44576463G>T	ENST00000289547.4	-	3	1714	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.F553L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F553L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F553L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	553					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAATGGCAAGGAAGGGGAAGA	0.597000													23	62					1.9806e-07	2.05319e-07	1	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145969658A>C	ENST00000394413.3	-	9	1754	c.1184T>G	c.(1183-1185)gTg>gGg	p.V395G	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V401G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V453G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V398G|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V395G|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V395G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V395G|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V461G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	395					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(2)|p.V453G(1)|p.V395G(1)|p.V384G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488000													37	133					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34065849	34065849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065849G>T	ENST00000397527.1	+	17	2737	c.2017G>T	c.(2017-2019)Gag>Tag	p.E673*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E673*|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	673	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAGCTGAGGAGGCTGGGGC	0.527000													5	33					0.000602214	0.00060976	1	1	0
GLI2	2736	broad.mit.edu	37	2	121740439	121740439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:121740439C>G	ENST00000452319.1	+	11	1726	c.1666C>G	c.(1666-1668)Cgc>Ggc	p.R556G	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R556G|GLI2_ENST00000314490.11_Missense_Mutation_p.R228G			P10070	GLI2_HUMAN	GLI family zinc finger 2	556					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCAGAATCGCACCCACTC	0.627000													18	91					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50235295	50235295	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:50235295C>T	ENST00000451037.2	-	0	792				CA10_ENST00000340813.6_De_novo_Start_OutOfFrame|CA10_ENST00000442502.2_De_novo_Start_OutOfFrame|CA10_ENST00000570565.1_Intron|CA10_ENST00000285273.4_De_novo_Start_OutOfFrame	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGGACAGTCACCCCCAAGATC	0.612000													11	22					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699265	60699265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:60699265C>G	ENST00000005286.4	+	6	1277	c.1124C>G	c.(1123-1125)cCa>cGa	p.P375R	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P374R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	374						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGGAGTACCCAGGCCAGGCC	0.577000													36	114					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43495465	43495465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43495465C>T	ENST00000265351.7	-	26	3037	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	943					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GCCTCATCTTCTCCACTGCAG	0.498000													18	50					0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459127	53459127	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:53459127G>T	ENST00000331173.4	-	1	228	c.183C>A	c.(181-183)ttC>ttA	p.F61L	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	61	RRM.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGTATTCGCAGAAGCCATAGC	0.547000													51	189					6.23363e-37	6.66991e-37	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124293452	124293452	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:124293452C>T	ENST00000409039.3	+	18	2767	c.2742C>T	c.(2740-2742)atC>atT	p.I914I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAATGAGATCGACAAGATGT	0.488000													78	266					0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972518	110972518	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110972518C>T	ENST00000394607.3	-	5	937	c.774G>A	c.(772-774)atG>atA	p.M258I	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M258I			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	258					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TTGTTTTCCTCATTTTGCCGA	0.428000													17	65					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99123623	99123623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99123623C>T	ENST00000370992.4	-	30	3666	c.3555G>A	c.(3553-3555)gtG>gtA	p.V1185V	RRP12_ENST00000536831.1_Silent_p.V903V|RRP12_ENST00000315563.6_Silent_p.V1085V|RRP12_ENST00000414986.1_Silent_p.V1124V|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1185						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCTGATGATCACATCTTCCA	0.542000													44	173					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204354805	204354805	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354805C>T	ENST00000319170.5	-	4	533	c.234G>A	c.(232-234)ctG>ctA	p.L78L	RAPH1_ENST00000453034.1_Silent_p.L78L|RAPH1_ENST00000374488.2_Silent_p.L78L|RAPH1_ENST00000439222.1_Silent_p.L78L|RAPH1_ENST00000418114.1_Silent_p.L78L|RAPH1_ENST00000423104.1_Silent_p.L78L|RAPH1_ENST00000374489.2_Silent_p.L78L|RAPH1_ENST00000374493.3_Silent_p.L78L|RAPH1_ENST00000457812.1_Silent_p.L78L|RAPH1_ENST00000419464.1_Silent_p.L78L|RAPH1_ENST00000308091.4_Silent_p.L78L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	78					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCCTGATTCAGAGCTTCTG	0.378000													17	87					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150512094	150512094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:150512094C>T	ENST00000354546.5	-	10	906	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.E227K|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.E195K	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	227				IE -> MK (in Ref. 2; AAA35656).		melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGGCTTCAATCGGCTTC	0.542000													10	26					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128074	152128074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152128074G>A	ENST00000316073.3	-	3	1565	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	501	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTCTGGCTGACCATAATGA	0.507000													210	694					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095596	81095596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:81095596C>T	ENST00000378611.4	-	3	473	c.358G>A	c.(358-360)Gag>Aag	p.E120K	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.E120K	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	120										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGGCCCCCCTCAGTAGGAGGC	0.607000													44	155					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398044	42398044	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42398044C>T	ENST00000225308.8	-	9	897	c.723G>A	c.(721-723)ccG>ccA	p.P241P	SLC25A39_ENST00000586016.1_Silent_p.P117P|SLC25A39_ENST00000377095.5_Silent_p.P249P|SLC25A39_ENST00000590194.1_Silent_p.P241P|SLC25A39_ENST00000537904.2_Silent_p.P226P	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	249					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTGGTCCTTCGGCCTGAACC	0.597000													51	121					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76196329	76196329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76196329G>A	ENST00000308275.3	+	1	130	c.25G>A	c.(25-27)Gag>Aag	p.E9K	FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000540507.1_5'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.E9K	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	9				VGCCGECR -> AGACGGP (in Ref. 5; AAF04523).	ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCTGCGGCGAGTGCCGCGG	0.677000													5	7					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11157176	11157176	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:11157176C>G	ENST00000337414.4	-	13	3604	c.2732G>C	c.(2731-2733)gGa>gCa	p.G911A	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.G708A|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.G708A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	911					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGCTTGGCCTCCCTGGTCCGT	0.716000													18	6					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750601	30750601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:30750601G>C	ENST00000262518.4	+	34	9625	c.9240G>C	c.(9238-9240)aaG>aaC	p.K3080N	SRCAP_ENST00000395059.2_Missense_Mutation_p.K3018N|SRCAP_ENST00000344771.4_Missense_Mutation_p.K2922N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3080					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGACGGAAGAGTGGAGGGT	0.587000													16	48					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587000													22	44					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12807065	12807065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12807065G>C	ENST00000380339.3	-	1	367	c.331C>G	c.(331-333)Cgc>Ggc	p.R111G	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.R111G|FBXW9_ENST00000587955.1_Missense_Mutation_p.R111G			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	111	F-box.						protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						ACGAGGTCGCGGAGCGCGTGG	0.721000													5	10					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890712	55890712	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55890712C>G	ENST00000313472.3	+	1	864	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGAATCCACTCATTTATAGTC	0.363000													17	54					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5231463	5231463	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5231463C>T	ENST00000372412.4	-	14	2249	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	PTPRS_ENST00000588012.1_Silent_p.V658V|PTPRS_ENST00000357368.4_Silent_p.V671V|PTPRS_ENST00000348075.2_Silent_p.V658V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000587303.1_Silent_p.V671V|PTPRS_ENST00000262963.6_Silent_p.V667V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	671	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGCCGTTCACCTCCTTGG	0.672000													20	46					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50418832	50418832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:50418832G>A	ENST00000217086.4	-	1	227	c.116C>T	c.(115-117)gCg>gTg	p.A39V	SALL4_ENST00000371539.3_Missense_Mutation_p.A39V|SALL4_ENST00000395997.3_Missense_Mutation_p.A39V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	39					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTcccccgccgcgggcgccgc	0.746000													4	19					0	0	1	0	0
FAM174B	400451	broad.mit.edu	37	15	93277233	93277233	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:93277233C>T	ENST00000556424.1	-	0	95																											TCCAGCACCTCTGCAGTGAGG	0.582000													20	51					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676180	113676180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113676180C>T	ENST00000263326.3	+	5	493	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IL37_ENST00000353225.3_Missense_Mutation_p.R111C|IL37_ENST00000349806.3_Missense_Mutation_p.R90C|IL37_ENST00000352179.3_Missense_Mutation_p.R130C|IL37_ENST00000311328.2_Missense_Mutation_p.R125C	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	151					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGAATCAGCACGCCGGCCCTT	0.517000													12	47					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70005608	70005608	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:70005608G>C	ENST00000352241.4	+	8	1103	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q	MITF_ENST00000531774.1_Missense_Mutation_p.E151Q|MITF_ENST00000394351.3_Missense_Mutation_p.E213Q|MITF_ENST00000394355.2_Missense_Mutation_p.E289Q|MITF_ENST00000448226.2_Missense_Mutation_p.E320Q|MITF_ENST00000314557.6_Missense_Mutation_p.E207Q|MITF_ENST00000328528.6_Missense_Mutation_p.E313Q|MITF_ENST00000472437.1_Missense_Mutation_p.E262Q|MITF_ENST00000314589.5_Missense_Mutation_p.E298Q	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	320					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGAAGTTGAACGAAGAAG	0.383000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						9	30					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549444	23549444	+	Missense_Mutation	SNP	G	G	C	rs151153498		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23549444G>C	ENST00000262710.1	-	6	1601	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C	ACIN1_ENST00000605057.1_Missense_Mutation_p.S367C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S385C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S425C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	425	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGGTGGTGGAGAAGATGCTTC	0.517000													20	65					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43578408	43578408	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43578408G>T	ENST00000372236.4	+	10	1487	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	POLH_ENST00000535400.1_Missense_Mutation_p.D336Y|POLH_ENST00000372226.1_Missense_Mutation_p.D398Y	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	398					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GATGAGCCATGATGCATTTAC	0.468000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				19	44					2.4624e-09	2.56992e-09	1	1	0
NOTUM	147111	broad.mit.edu	37	17	79918540	79918540	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79918540C>T	ENST00000409678.3	-	1	629	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	82						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGAGCTGCTGCGCGGAGCAGG	0.662000													9	18					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155001832	155001832	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155001832G>A	ENST00000368424.3	-	8	1277	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	DCST2_ENST00000295536.5_Silent_p.L407L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	407						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGTCTCCAGAATGTAAAAA	0.547000													35	102					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500366	118500366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:118500366G>C	ENST00000311085.8	+	20	4947	c.4867G>C	c.(4867-4869)Gaa>Caa	p.E1623Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E1623Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1623										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAATGCATAGAAAAAGTAAG	0.408000													21	83					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46907941	46907941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46907941C>T	ENST00000378623.1	-	17	2601	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	787					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCCAGTACACGTGGTCATCC	0.577000													7	19					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158456891	158456891	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158456891C>T	ENST00000409339.3	-	15	1913	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	NCAPG2_ENST00000409423.1_Silent_p.E600E|NCAPG2_ENST00000449727.2_Silent_p.E600E|NCAPG2_ENST00000275830.10_Silent_p.E392E|NCAPG2_ENST00000356309.3_Silent_p.E600E|NCAPG2_ENST00000541468.1_Silent_p.E101E	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	600					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTCTCCTTCTCCCTTCCGT	0.512000													11	82					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043095	184043095	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:184043095C>A	ENST00000342981.4	+	18	3312	c.2898C>A	c.(2896-2898)atC>atA	p.I966I	EIF4G1_ENST00000319274.6_Silent_p.I965I|EIF4G1_ENST00000411531.1_Silent_p.I926I|EIF4G1_ENST00000435046.2_Silent_p.I769I|EIF4G1_ENST00000441154.1_Silent_p.I802I|EIF4G1_ENST00000392537.2_Silent_p.I878I|EIF4G1_ENST00000414031.1_Silent_p.I925I|EIF4G1_ENST00000424196.1_Silent_p.I972I|EIF4G1_ENST00000427845.1_Silent_p.I879I|EIF4G1_ENST00000352767.3_Silent_p.I972I|EIF4G1_ENST00000346169.2_Silent_p.I965I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.I801I|EIF4G1_ENST00000434061.2_Silent_p.I770I|EIF4G1_ENST00000382330.3_Silent_p.I972I	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	965	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGAAAAAATCATTAAAGAAA	0.532000													35	113					3.67414e-24	3.92139e-24	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47581731G>A	ENST00000285039.7	-	2	344	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	15	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453000													23	84					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220101335	220101335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220101335G>A	ENST00000366926.3	-	1	609	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.R150C	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	150					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGCAGGCGGCGACTGCGTCCC	0.746000													4	5					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487792	139487792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:139487792C>T	ENST00000367658.2	+	2	928	c.643C>T	c.(643-645)Cct>Tct	p.P215S	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	215					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGGGAGGCCTCCTGGTGAGGC	0.597000													14	48					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38168124	38168124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38168124C>T	ENST00000333167.8	-	8	866	c.694G>A	c.(694-696)Gat>Aat	p.D232N	ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.D191N|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.D80N|ACAA1_ENST00000301810.7_Missense_Mutation_p.D199N	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	232					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCCTTGTCATCATGGACCGTG	0.592000													30	93					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139928595	139928595	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139928595C>G	ENST00000297183.6	+	35	7908	c.7784C>G	c.(7783-7785)tCc>tGc	p.S2595C	EIF4EBP3_ENST00000310331.2_Missense_Mutation_p.P70A|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2595C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACAACTCCTCCAACAGC	0.567000													9	41					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044215	119044215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:119044215G>C	ENST00000334464.5	-	5	2268	c.2029C>G	c.(2029-2031)Caa>Gaa	p.Q677E	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	677					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCATGTTTGACGGTCGTCC	0.433000													14	63					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987776	182987776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987776C>T	ENST00000326505.3	+	2	720	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.L64F|B3GNT5_ENST00000460419.1_Missense_Mutation_p.L64F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	64					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TACCCTGTCTCTTAAGCACAC	0.403000													24	83					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632592	48632592	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48632592G>C	ENST00000006658.6	+	16	2277		c.e16-1		SPATA20_ENST00000511937.1_Splice_Site|SPATA20_ENST00000356488.4_Splice_Site|SPATA20_ENST00000393244.3_Splice_Site	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ATTCCGGTCAGATCGTGATCT	0.592000													11	39					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150261	51150261	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:51150261C>T	ENST00000342995.2	+	1	495	c.393C>T	c.(391-393)caC>caT	p.H131H						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CCACTGGCCACGCCGACGAGC	0.701000													6	5					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60059866G>C	ENST00000397786.2	-	16	3574	c.3498C>G	c.(3496-3498)ctC>ctG	p.L1166L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTAGCCCTGAGAGCTTCAA	0.348000													21	109					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159970	167159970	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:167159970G>A	ENST00000476257.1	-	10	1443	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	SERPINI2_ENST00000264677.4_Missense_Mutation_p.S382L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S382L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S382L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	382					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAACAGAATTGATTCTAGGGA	0.313000													7	15					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107448	14107448	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107448C>T	ENST00000235372.7	+	8	4014	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S852F|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1053F|PRDM2_ENST00000413440.1_Missense_Mutation_p.S852F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1053	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACTttcttcttcctcctct	0.542000													21	68					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72294523	72294523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72294523G>A	ENST00000334456.5	-	20	1932	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	PDE2A_ENST00000540345.1_Missense_Mutation_p.R554C|PDE2A_ENST00000376450.3_Missense_Mutation_p.R307C|PDE2A_ENST00000444035.2_Missense_Mutation_p.R554C|PDE2A_ENST00000544570.1_Missense_Mutation_p.R556C|PDE2A_ENST00000418754.2_Missense_Mutation_p.R448C	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	563					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGGTGGCTGCGATACTGAGCC	0.537000													31	80					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238455	126238455	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126238455C>G	ENST00000394329.3	+	1	902	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	297	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCCCCTTCCAAATGGACCC	0.662000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	63					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108811112	108811112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108811112G>A	ENST00000322536.3	+	18	2719	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	DDX10_ENST00000534221.1_3'UTR	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	864							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AGCAGAGGATGAAGAGCTGGT	0.478000			T	NUP98	AML*								7	56					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145736434	145736434	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145736434C>T	ENST00000301327.4	+	5	1386	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	376	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGGGCACTCTGGCCGGAGG	0.647000													47	151					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76831483	76831483	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76831483G>A	ENST00000542802.3	-	4	797	c.354C>T	c.(352-354)ttC>ttT	p.F118F	USP36_ENST00000590546.2_Silent_p.F118F|USP36_ENST00000312010.6_Silent_p.F118F|USP36_ENST00000589424.1_Silent_p.F118F			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCCCACGCGGAAGACCCGCT	0.592000													9	41					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	348					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587000													34	137					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063265	76063265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76063265C>G	ENST00000393004.2	-	4	840	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.E108Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.E207Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	207										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTCCCGCTCCTGCTCCAGC	0.527000													42	151					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285723	26285723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26285723G>C	ENST00000289352.1	-	1	39	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.S2C			P62805	H4_HUMAN	histone cluster 1, H4h	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.S2C(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						ACCACGGCCAGACATGACTAA	0.473000										HNSCC(76;0.23)			17	71					0	0	1	0	0
MIR521-1	574494	broad.mit.edu	37	19	54251893	54251893	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:54251893C>T	ENST00000384902.1	+	0	4					NR_030216.1																						AAGAAGATCTCAGGCTGTGAC	0.413000													31	131					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627266	66627266	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:66627266C>G	ENST00000309602.4	+	2	1751	c.1508C>G	c.(1507-1509)tCg>tGg	p.S503W	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	503						integral to membrane		p.S503L(1)		breast(1)|lung(1)|prostate(1)	3						CTGCCGGCCTCGCCCCTGTGC	0.701000													4	26					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24175047	24175047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:24175047G>A	ENST00000378454.3	-	10	1643	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	DCDC2_ENST00000378450.3_Nonsense_Mutation_p.Q201*	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	448					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GGTGGTCTTTGAGGGTCTACA	0.353000													12	72					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728670	42728670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42728670G>A	ENST00000301215.3	+	3	340	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				AGAAGTGACTGAGATGACACC	0.542000													49	123					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610244	38610244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38610244G>C	ENST00000222345.6	+	9	3099	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	864					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTGGCGCTGAGCAGCACAG	0.557000													33	76					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49770264	49770264	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49770264C>G	ENST00000321599.4	-	4	877	c.576G>C	c.(574-576)ctG>ctC	p.L192L	IP6K1_ENST00000395238.1_Silent_p.L27L|IP6K1_ENST00000468463.1_Silent_p.L192L|IP6K1_ENST00000460540.1_Silent_p.L27L	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	192					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCATGCGGCTCAGCTGCTGCT	0.567000													25	53					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53908249	53908249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:53908249G>C	ENST00000335754.3	-	8	1154	c.1054C>G	c.(1054-1056)Cat>Gat	p.H352D	ACTR8_ENST00000482349.1_Missense_Mutation_p.H241D|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	352					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGATCTAAATGACAAAAAGTT	0.338000													16	39					0	0	1	0	0
MIS18A	54069	broad.mit.edu	37	21	33651219	33651219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:33651219G>C	ENST00000290130.3	-	1	161	c.107C>G	c.(106-108)tCc>tGc	p.S36C	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	36					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CGAGTCTTCGGAGAGTCTCTT	0.637000													16	57					0	0	1	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880615	105880615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:105880615C>T	ENST00000301919.4	-	3	2100	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	229						nucleus											CGTTCCTTTTCTACCTGCAGC	0.463000													17	85					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131969878	131969878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:131969878C>G	ENST00000368644.1	+	8	824	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V	GLRX3_ENST00000331244.5_Missense_Mutation_p.L268V	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	268	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CAAACAAATTCTGGAAATACT	0.343000													19	68					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5711936	5711936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:5711936G>A	ENST00000360614.3	-	4	873	c.716C>T	c.(715-717)tCa>tTa	p.S239L	LONP1_ENST00000593119.1_Missense_Mutation_p.S175L|LONP1_ENST00000540670.2_Missense_Mutation_p.S43L|LONP1_ENST00000585374.1_Missense_Mutation_p.S125L|LONP1_ENST00000590729.1_Missense_Mutation_p.S125L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	239	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCCGCTTTGACTTCCTGCG	0.667000													27	65					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94935662	94935662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94935662C>G	ENST00000222381.3	-	7	946	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	PON1_ENST00000542556.1_Missense_Mutation_p.E239Q	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	239					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCCAGCAACTCAGCTATATAG	0.353000													20	64					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492922	21492922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:21492922G>T	ENST00000377142.4	-	2	817	c.461C>A	c.(460-462)tCg>tAg	p.S154*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	154					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCGGGCGCCGACAGGTACCG	0.672000													9	33					1.12685e-05	1.14989e-05	1	1	0
SPTLC2	9517	broad.mit.edu	37	14	78063675	78063675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:78063675C>T	ENST00000216484.2	-	2	374	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	61				EAFE -> TLAR (in Ref. 5; AAC50871).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAAAGCTTCATTAAACGGT	0.383000													8	46					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606970	42606970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42606970C>G	ENST00000359486.3	-	1	4478	c.4342G>C	c.(4342-4344)Gag>Cag	p.E1448Q	TCF20_ENST00000335626.4_Missense_Mutation_p.E1448Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCATGTGTCTCTGTCTTCACT	0.527000													52	158					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863393	23863393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23863393C>G	ENST00000405093.3	-	21	2639	c.2569G>C	c.(2569-2571)Gag>Cag	p.E857Q	MYH6_ENST00000356287.3_Missense_Mutation_p.E857Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	857					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCCCGAACTCTTCCTTCATG	0.567000													40	125					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43591732G>T	ENST00000307126.5	-	8	1173	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.L304M	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	392							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512000													31	86					2.61193e-14	2.75821e-14	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40037702	40037702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:40037702G>C	ENST00000324616.5	+	3	339	c.185G>C	c.(184-186)tGc>tCc	p.C62S	C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Missense_Mutation_p.C62S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	62										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGATATCTTGCAAGAAGAAA	0.294000													7	38					0	0	1	0	0
TNF	7124	broad.mit.edu	37	6	31544355	31544355	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:31544355C>T	ENST00000449264.2	+	2	406	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	77		Cleavage; by ADAM17.			activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCCAGGCAGTCAGTAAGTGTC	0.502000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				38	112					0	0	1	0	0
NUTF2	10204	broad.mit.edu	37	16	67899100	67899100	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67899100G>C	ENST00000219169.4	+	2	350	c.67G>C	c.(67-69)Gat>Cat	p.D23H	NUTF2_ENST00000569436.2_Missense_Mutation_p.D23H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D23H	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	23	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAGTTATTTGATAATGATAG	0.493000													16	49					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373936	57373936	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57373936C>T	ENST00000403558.1	+	5	1440	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	SERPING1_ENST00000378324.2_Silent_p.F263F|SERPING1_ENST00000378323.4_Silent_p.F320F|SERPING1_ENST00000340687.6_Silent_p.F315F|SERPING1_ENST00000278407.4_Silent_p.F315F	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	315					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTTCACTTCAAAAACTCAG	0.423000													29	97					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762646	105762646	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105762646G>C	ENST00000369755.3	+	9	2255	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	SLK_ENST00000335753.4_Missense_Mutation_p.Q570H	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	570	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGATACGCAGAGTAATGATG	0.443000													11	48					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108595	151108595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108595G>A	ENST00000341697.3	-	13	2842	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	384	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTCGGGAAGAGGAGAACAA	0.592000													13	77					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44107235	44107235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44107235G>A	ENST00000259746.9	+	7	622	c.439G>A	c.(439-441)Gat>Aat	p.D147N	TMEM63B_ENST00000323267.6_Missense_Mutation_p.D147N|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	147						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATGTGGGGGCGATGCCGTGCA	0.582000													21	73					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99994257	99994257	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:99994257C>G	ENST00000314594.5	+	8	2361	c.264C>G	c.(262-264)ttC>ttG	p.F88L	R3HCC1L_ENST00000298999.3_Missense_Mutation_p.F672L|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.F672L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.F78L	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		TAGGAGTATTCTCCAGTCCAA	0.323000													15	44					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897464	153897464	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:153897464C>T	ENST00000511601.1	+	12	3209	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	FHDC1_ENST00000260008.3_Silent_p.S1007S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1007					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGCCCACTCCGAGGGCCCTG	0.622000													23	83					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8175697	8175697	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8175697C>T	ENST00000520004.1	-	6	4452	c.4188G>A	c.(4186-4188)ctG>ctA	p.L1396L	SGK223_ENST00000330777.4_Silent_p.L1396L			Q86YV5	SG223_HUMAN		1396							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGGAGCTTCAGCGACTGTA	0.657000													26	57					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085023	152085023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152085023C>T	ENST00000368804.1	-	2	669	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	224					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)			TGTTTCTCCTCGCGGCCCTTC	0.572000													68	229					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47082968	47082968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:47082968G>A	ENST00000457458.2	+	2	450	c.30G>A	c.(28-30)atG>atA	p.M10I	CDK16_ENST00000518022.1_Missense_Mutation_p.M4I|CDK16_ENST00000357227.4_Missense_Mutation_p.M4I|CDK16_ENST00000276052.6_Missense_Mutation_p.M78I	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	4							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGGATCGGATGAAGAAGATCA	0.527000													13	13					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880791	200880791	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200880791C>T	ENST00000367342.4	+	9	1625	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	C1orf106_ENST00000413687.2_Silent_p.P390P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	475										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCAGCAGCCCCGACATCTCCT	0.692000													76	180					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106888480	106888480	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:106888480G>A	ENST00000526355.2	-	1	770	c.302C>T	c.(301-303)tCg>tTg	p.S101L	GUCY1A2_ENST00000282249.2_Splice_Site_p.S101L|GUCY1A2_ENST00000347596.2_Splice_Site_p.S101L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCCGCTCACCGAGGGCGCCGT	0.756000													6	11					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51773340	51773340	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:51773340G>C	ENST00000543196.2	-	2	431	c.226C>G	c.(226-228)Cca>Gca	p.P76A	GALNT6_ENST00000356317.3_Missense_Mutation_p.P76A			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	76					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGGCTTCTGGAGCCCTGATT	0.562000													42	91					0	0	1	0	0
ARL4C	10123	broad.mit.edu	37	2	235404739	235404739	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235404739G>A	ENST00000390645.2	-	1	958	c.492C>T	c.(490-492)atC>atT	p.I164I	ARL4C_ENST00000339728.3_Silent_p.I164I	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	164					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGCCCTCGCCGATGATGGCGC	0.617000													18	57					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023801	76023801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76023801C>T	ENST00000393004.2	-	5	1968	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	FILIP1_ENST00000370020.1_Missense_Mutation_p.E484K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E583K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	583										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATTTTTCTTCTTCACTTTTC	0.338000													23	50					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525537	38525537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:38525537C>T	ENST00000378482.2	+	2	421	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Missense_Mutation_p.R99C|TSPAN7_ENST00000422612.2_Missense_Mutation_p.R108C|TSPAN7_ENST00000545599.1_Missense_Mutation_p.R56C|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R112C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	82					interspecies interaction between organisms	integral to plasma membrane		p.R82C(1)|p.R77C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTACATGTCGTGGTAGCCC	0.418000													11	23					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57710248	57710248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:57710248C>T	ENST00000333493.4	+	3	504	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	115					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGCCCTCTCAGGTGAAGAG	0.473000													23	67					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571672	155571672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:155571672G>A	ENST00000392845.3	-	1	495	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	SLC33A1_ENST00000359479.3_Missense_Mutation_p.H39Y			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGTCCAAATGACTGTCATCC	0.612000													22	59					0	0	1	0	0
C15orf56	644809	broad.mit.edu	37	15	40544648	40544648	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:40544648C>T	ENST00000319503.3	-	2	345	c.324G>A	c.(322-324)ccG>ccA	p.P108P	PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000455577.2_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	108										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CGGCGCCCCTCGGGCAGAGGG	0.706000													5	31					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910809	59910809	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59910809G>A	ENST00000396065.1	+	3	820	c.372G>A	c.(370-372)ctG>ctA	p.L124L	GCNT3_ENST00000560585.1_Silent_p.L124L	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	124					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTCCCACTGAGCAAAGAAG	0.473000													20	58					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45809319	45809319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45809319C>T	ENST00000372090.5	+	8	2061	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	TOE1_ENST00000539779.1_Missense_Mutation_p.S413F|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	493						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					AGCCAGTTCTCTCGTTCCTCC	0.532000													28	90					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245765916	245765916	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:245765916G>C	ENST00000366518.4	+	3	349	c.245G>C	c.(244-246)cGa>cCa	p.R82P	KIF26B_ENST00000407071.2_Missense_Mutation_p.R463P			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	463	Gly-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTTGGCTCGAGATACTTCA	0.488000													10	25					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523455	55523455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55523455C>T	ENST00000436346.1	-	30	5871	c.5030G>A	c.(5029-5031)gGa>gAa	p.G1677E	CCDC88A_ENST00000422883.2_Missense_Mutation_p.G178E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.G1649E|CCDC88A_ENST00000413716.2_Missense_Mutation_p.G1676E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.G1676E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1677					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AACTTCACTTCCAGGGGAACC	0.398000													16	54					0	0	1	0	0
SLC35A3	23443	broad.mit.edu	37	1	100464840	100464840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100464840C>G	ENST00000465289.1	+	3	603	c.211C>G	c.(211-213)Cga>Gga	p.R71G	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.R71G|SLC35A3_ENST00000370153.1_Missense_Mutation_p.R113G|SLC35A3_ENST00000427993.2_Missense_Mutation_p.R71G	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	71					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGCACTGAATCGAGTACTACA	0.308000													14	25					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39893156	39893156	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:39893156C>G	ENST00000281961.2	+	1	98	c.42C>G	c.(40-42)ctC>ctG	p.L14L	TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2			transmembrane protein 178A																		GCCTCGGCCTCAGCCTGTGCT	0.741000													6	19					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161324	48161324	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:48161324C>T	ENST00000418331.2	+	11	2791	c.2439C>T	c.(2437-2439)atC>atT	p.I813I		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	813					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTACTGGCATCACAGGTGGGC	0.542000													10	27					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61560831	61560831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61560831C>T	ENST00000290866.4	+	10	1522	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Nonsense_Mutation_p.Q500*|ACE_ENST00000538928.1_Silent_p.I451I	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	500	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AACCAAGTATCAGGGGATCTG	0.448000													23	76					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716787	40716787	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40716787G>C	ENST00000393818.2	+	4	1564	c.1108G>C	c.(1108-1110)Ggg>Cgg	p.G370R	COASY_ENST00000590958.1_Missense_Mutation_p.G399R|COASY_ENST00000449624.1_Missense_Mutation_p.G75R|COASY_ENST00000421097.2_Missense_Mutation_p.G370R|COASY_ENST00000420359.1_Missense_Mutation_p.G370R	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	370	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGTGGCTCTGGGAAGAGCTC	0.587000													56	153					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141568637	141568637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:141568637C>T	ENST00000220592.5	-	7	937	c.825G>A	c.(823-825)atG>atA	p.M275I	AGO2_ENST00000519980.1_Missense_Mutation_p.M275I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ACTTCCTCTTCATCTGCCCAC	0.612000													30	108					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:26586972G>C	ENST00000436318.2	-	2	648	c.515C>G	c.(514-516)tCt>tGt	p.S172C	MUC15_ENST00000281268.8_Missense_Mutation_p.S172C|MUC15_ENST00000455601.2_Missense_Mutation_p.S145C|MUC15_ENST00000529533.1_Missense_Mutation_p.S172C|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S172C|ANO3_ENST00000256737.3_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	145						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTCTGAAGACAGAGCAGG	0.428000													35	122					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56349424	56349424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349424G>C	ENST00000548747.1	-	9	2248	c.1586C>G	c.(1585-1587)tCa>tGa	p.S529*	PMEL_ENST00000536427.1_Nonsense_Mutation_p.S487*|PMEL_ENST00000550447.1_Nonsense_Mutation_p.S158*|PMEL_ENST00000449260.2_Nonsense_Mutation_p.S529*|PMEL_ENST00000548493.1_Nonsense_Mutation_p.S529*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.S529*|PMEL_ENST00000550464.1_Nonsense_Mutation_p.S443*|PMEL_ENST00000539511.1_Nonsense_Mutation_p.S443*|PMEL_ENST00000552882.1_Nonsense_Mutation_p.S529*			P40967	PMEL_HUMAN	premelanosome protein	529					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCTGGCGATGAGATCTCCAT	0.597000													16	86					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126722265	126722265	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:126722265C>T	ENST00000251772.4	+	3	1470	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	PLXNA1_ENST00000393409.2_Silent_p.L490L			Q9UIW2	PLXA1_HUMAN	plexin A1	490	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCGAGACCTCGTCCTCAGCC	0.672000													25	63					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144876029	144876029	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:144876029C>G	ENST00000369359.4	-	32	5098		c.e32-1		PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000524974.1_Splice_Site|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTATGATCCTCTGTAAACCAA	0.458000			T	PDGFRB	MPD								37	288					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938374	67938374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:67938374G>A	ENST00000252336.6	+	5	1750	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	STARD8_ENST00000374599.3_Missense_Mutation_p.E540K|STARD8_ENST00000374597.3_Missense_Mutation_p.E460K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	460					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTCCATGAATGAGGCTGAGGC	0.592000													14	14					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108403160	108403160	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108403160C>T	ENST00000361582.3	+	27	3211	c.2981C>T	c.(2980-2982)tCt>tTt	p.S994F	DZIP3_ENST00000463306.1_Missense_Mutation_p.S994F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	994					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAGTCGTCTCTGCAACTGGC	0.433000													48	222					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48641546	48641546	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48641546C>G	ENST00000297423.4	+	18	2871	c.2487C>G	c.(2485-2487)ctC>ctG	p.L829L	SPIDR_ENST00000518074.1_Silent_p.L769L|SPIDR_ENST00000518060.1_Silent_p.L31L|SPIDR_ENST00000517693.1_Silent_p.L304L|SPIDR_ENST00000541342.1_Silent_p.L759L|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		CTCCTGTTCTCAAGAGGCACC	0.592000													15	78					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36221766	36221766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36221766C>G	ENST00000222270.7	+	26	5435	c.5435C>G	c.(5434-5436)tCa>tGa	p.S1812*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.S1812*	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GCCCCTTCCTCAGGTGTGGCT	0.572000													9	12					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48846411	48846411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:48846411G>A	ENST00000376423.4	-	8	568	c.536C>T	c.(535-537)tCc>tTc	p.S179F	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S232F|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S187F|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.S232F			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	232						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGTTTCTCGGAGAGCTGGGG	0.368000													6	5					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256927	7256927	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256927C>G	ENST00000333751.3	+	1	1720	c.666C>G	c.(664-666)ctC>ctG	p.L222L	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	222					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AAGACCTGCTCAACTCCAGGT	0.602000													19	44					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19346457	19346457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19346457G>C	ENST00000380432.2	+	18	2868	c.2835G>C	c.(2833-2835)aaG>aaC	p.K945N	DENND4C_ENST00000434457.2_Missense_Mutation_p.K1230N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K1181N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	945						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGGAATAAGAGAAGTAGTT	0.378000													12	70					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153399292	153399292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:153399292C>G	ENST00000288670.9	+	3	608	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	81	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TACATACATTCAAAAGCTCAA	0.438000													10	36					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679239	38679239	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:38679239C>T	ENST00000267377.2	+	3	1262	c.645C>T	c.(643-645)ccC>ccT	p.P215P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	215					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCCAGAGCCCGCTCAACGCT	0.607000													26	81					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038408	37038408	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37038408G>A	ENST00000334116.7	-	6	1347	c.737C>T	c.(736-738)tCa>tTa	p.S246L	ZNF529_ENST00000591340.1_Missense_Mutation_p.S351L	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AATGAGCTGTGAACTAATTCT	0.398000													19	46					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522678	124522678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:124522678C>G	ENST00000408936.3	+	6	1312	c.1130C>G	c.(1129-1131)tCt>tGt	p.S377C	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S349C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S253C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	377	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGATGGCATCTGCCCTGGTG	0.622000													12	38					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382201	10382201	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:10382201G>A	ENST00000397077.1	-	19	3545	c.2970C>T	c.(2968-2970)atC>atT	p.I990I	ATP2B2_ENST00000383800.4_Silent_p.I990I|ATP2B2_ENST00000352432.4_Silent_p.I1035I|ATP2B2_ENST00000343816.4_Silent_p.I1021I|ATP2B2_ENST00000360273.2_Silent_p.I1035I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1035					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCAGCACGATGGTGCAGA	0.627000													41	116					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58011448	58011448	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58011448G>A	ENST00000599847.1	+	0	142				AC003005.4_ENST00000601674.1_Intron|ZNF773_ENST00000282292.4_De_novo_Start_InFrame|ZNF773_ENST00000593916.1_De_novo_Start_InFrame|ZNF773_ENST00000598770.1_De_novo_Start_InFrame			Q6PK81	ZN773_HUMAN	zinc finger protein 773						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		CACAGGCTCCGATGGCGGCGG	0.721000													10	18					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62563952	62563952	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62563952G>A	ENST00000532297.1	-	15	1895	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	NXF1_ENST00000294172.2_Silent_p.F422F|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	422	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGAGGAATGAAAGGAATGC	0.547000													31	135					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483793	26483793	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:26483793C>T	ENST00000295589.3	-	5	949		c.e5-1			NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGTTTCCTTTCTGGGTGGGCA	0.577000													23	83					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67152011	67152011	+	Missense_Mutation	SNP	C	C	G	rs140554607		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:67152011C>G	ENST00000269081.4	-	30	4420	c.3511G>C	c.(3511-3513)Gat>Cat	p.D1171H	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1171					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACATCTTCATCTTCTTCTTCG	0.423000													18	95					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													7	20					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907514	139907514	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907514G>T	ENST00000297183.6	+	28	5268	c.5144G>T	c.(5143-5145)gGa>gTa	p.G1715V	ANKHD1_ENST00000360839.2_Missense_Mutation_p.G1715V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.G98V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G1715V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGGAGGATGCAACATC	0.378000													8	29					0.000274275	0.000277878	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763834	82763834	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:82763834G>A	ENST00000373200.2	+	1	566	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	168					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGTGCTCCGAGAGCCCCCGGA	0.637000													10	6					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136403437	136403437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:136403437G>A	ENST00000394945.1	-	6	725	c.556C>T	c.(556-558)Cct>Tct	p.P186S	SPOCK1_ENST00000282223.7_Missense_Mutation_p.P186S	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	186					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGCTCAGGCTCTGGGAGA	0.547000													37	92					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350213	134350213	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:134350213G>C	ENST00000275230.5	-	2	905	c.750C>G	c.(748-750)ctC>ctG	p.L250L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	250						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGATCACAGTGAGTTCCTCAG	0.443000													18	67					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40864325	40864325	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40864325C>A	ENST00000428826.2	-	12	1504	c.1383G>T	c.(1381-1383)ggG>ggT	p.G461G	EZH1_ENST00000592743.1_Silent_p.G461G|EZH1_ENST00000415827.2_Silent_p.G452G|EZH1_ENST00000590078.1_Silent_p.G391G|EZH1_ENST00000435174.1_Silent_p.G322G|EZH1_ENST00000585893.1_Silent_p.G421G			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	461					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)		ACGTCTTGGTCCCCAGAAGCC	0.532000													24	94					1.96895e-08	2.04988e-08	1	1	0
ACLY	47	broad.mit.edu	37	17	40068700	40068700	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40068700C>T	ENST00000352035.2	-	3	385	c.255G>A	c.(253-255)ctG>ctA	p.L85L	ACLY_ENST00000353196.1_Silent_p.L85L|ACLY_ENST00000590151.1_Silent_p.L85L|ACLY_ENST00000537919.1_Silent_p.L85L|ACLY_ENST00000393896.2_Silent_p.L85L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	85					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCGTGGCTTCAGCCAGGACT	0.547000													25	109					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64952854	64952854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:64952854G>A	ENST00000399262.2	-	16	6138	c.5920C>T	c.(5920-5922)Cag>Tag	p.Q1974*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1737*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1792*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1974					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTGCTGCTGAGACTCAGGC	0.393000													19	59					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49027929	49027929	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49027929C>G	ENST00000343546.4	+	1	608	c.240C>G	c.(238-240)ctC>ctG	p.L80L	P4HTM_ENST00000383729.4_Silent_p.L80L|P4HTM_ENST00000609406.1_3'UTR	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	80						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CGCTGCTGCTCTTCGTGCACT	0.682000													14	33					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81660670	81660670	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81660670C>T	ENST00000558726.1	-	3	372		c.e3-1		TMC3_ENST00000359440.5_Splice_Site			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3							integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTTCGCTTGTCTAAGAGAAGA	0.438000													58	195					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145003979	145003979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145003979C>G	ENST00000322810.4	-	23	3338	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E898Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E920Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E888Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E906Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E947Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E924Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E920Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E943Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1057	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCTCCTCTGGCTTCAGG	0.706000													9	23					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97915689	97915689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:97915689C>T	ENST00000370192.3	-	14	1931	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	611					'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			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)	CTGATGAGCTCAATATTCAGA	0.448000													19	81					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73624577	73624577	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:73624577G>A	ENST00000261917.3	-	3	2259	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	422					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCATCATGCCGATGAGGTTCA	0.592000													16	74					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64529564	64529564	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64529564C>T	ENST00000358025.3	+	50	10393	c.10163C>T	c.(10162-10164)tCg>tTg	p.S3388L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S3388L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3421L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S22L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3388					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCATGTCCTCGTTGCCACTG	0.398000													13	33					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79988621	79988621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79988621G>A	ENST00000306688.3	+	17	2295	c.1953G>A	c.(1951-1953)caG>caA	p.Q651Q		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	651						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTTCCTGCAGAACGCCGTCC	0.697000													12	15					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126137185	126137185	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126137185C>G	ENST00000332118.6	-	4	565	c.411G>C	c.(409-411)aaG>aaC	p.K137N	SRPR_ENST00000532259.1_Missense_Mutation_p.K109N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	137					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTCAAATTTCTTCATGGTAG	0.418000													47	125					0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15068615	15068615	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:15068615G>A	ENST00000266397.2	-	6	1155	c.582C>T	c.(580-582)ctC>ctT	p.L194L	ERP27_ENST00000544881.1_5'UTR|ERP27_ENST00000540097.1_Silent_p.L93L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	194						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CCAGAATAAAGAGAATCTGCA	0.403000													11	41					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76408454	76408454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:76408454G>A	ENST00000357063.3	+	18	4573	c.3313G>A	c.(3313-3315)Gag>Aag	p.E1105K	LMO7_ENST00000341547.4_Missense_Mutation_p.E771K|LMO7_ENST00000526202.1_Missense_Mutation_p.E670K|LMO7_ENST00000465261.2_Missense_Mutation_p.E820K|LMO7_ENST00000321797.8_Missense_Mutation_p.E820K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1105K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1105	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAAGAGTGGGAGGAAGCCAT	0.418000													29	71					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046578	17046578	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:17046578G>A	ENST00000492551.1	-	0	74					NR_026567.1																						CATGATGCAAGAGCCAGTTCA	0.607000													26	229					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225666692	225666692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:225666692C>T	ENST00000409592.3	-	40	4429	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1445Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1445							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATTTTTGCCTCGAATTATAGG	0.368000													17	62					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851902	71851902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851902G>C	ENST00000377245.4	+	14	2237	c.2029G>C	c.(2029-2031)Gac>Cac	p.D677H	TJP2_ENST00000453658.2_Missense_Mutation_p.D654H|TJP2_ENST00000535702.1_Missense_Mutation_p.D681H|TJP2_ENST00000265384.7_Missense_Mutation_p.D677H|TJP2_ENST00000348208.4_Missense_Mutation_p.D677H|TJP2_ENST00000539225.1_Missense_Mutation_p.D708H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	677					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGCCCAGAGAGACAACGCTGG	0.498000													44	175					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328225	80328225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:80328225C>G	ENST00000358842.3	-	1	1147	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	377					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAGTATCCCTCTTGCACTGGG	0.428000													27	107					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370141	35370141	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:35370141C>T	ENST00000373347.1	-	3	1112	c.844G>A	c.(844-846)Gag>Aag	p.E282K	DLGAP3_ENST00000235180.4_Missense_Mutation_p.E282K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	282					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCACCAGGCTCCCCAGGGGGC	0.677000													33	146					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230723619	230723619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:230723619G>A	ENST00000283943.5	-	3	948	c.770C>T	c.(769-771)tCt>tTt	p.S257F	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.S299F|TRIP12_ENST00000389044.4_Missense_Mutation_p.S299F|TRIP12_ENST00000409677.1_Missense_Mutation_p.S299F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATTTTGAAGAGCCACCAGT	0.473000													21	67					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640356	21640356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21640356G>A	ENST00000328843.6	+	16	3094	c.3063G>A	c.(3061-3063)gtG>gtA	p.V1021V	DNAH11_ENST00000409508.3_Silent_p.V1021V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1021	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						ACAGAGTGGTGAATGTCATCA	0.428000									Kartagener syndrome				47	145					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923426	28923426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923426G>C	ENST00000257192.4	+	12	1913	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	567					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCCCATTTTTGATGATCTGTT	0.423000													32	122					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191854376	191854376	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:191854376C>T	ENST00000361099.3	-	12	1449	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	STAT1_ENST00000392323.2_Silent_p.L356L|STAT1_ENST00000392322.3_Silent_p.L354L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L354L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	354					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AATTATAATTCAGCTCTTGCA	0.249000													4	5					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968681	5968681	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5968681C>T	ENST00000329564.6	+	1	112	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGCCCCTCAGCCTCCTTT	0.582000													41	96					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113590374	113590374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:113590374C>T	ENST00000263341.2	-	5	541	c.331G>A	c.(331-333)Gag>Aag	p.E111K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	111					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.E111K(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACATAAGCCTCGTTATCCCAT	0.488000													29	101					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113599704	113599704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113599704C>T	ENST00000314045.7	-	18	2321	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	DDX54_ENST00000306014.5_Missense_Mutation_p.R765Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	765					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATACAGGTCTCGCTTGTAGGA	0.607000													41	183					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146691	185146691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:185146691G>C	ENST00000265026.3	+	2	656	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	MAP3K13_ENST00000424227.1_Missense_Mutation_p.E108Q|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	108					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGTGGACGGAGAGAGCACAAG	0.517000													25	45					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259519	47259519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259519G>A	ENST00000256996.4	+	8	1350	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	DDB2_ENST00000378600.3_Silent_p.Q196Q|DDB2_ENST00000378603.3_Silent_p.Q321Q|DDB2_ENST00000378601.3_3'UTR	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	385					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						TGATGTGTCAGCTCTATGACC	0.463000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	70					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27543128	27543128	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27543128C>A	ENST00000544915.1	+	8	992	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	ARNTL2_ENST00000546179.1_Missense_Mutation_p.S255Y|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S278Y|ARNTL2_ENST00000261178.5_Missense_Mutation_p.S244Y|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S255Y|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S207Y|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S292Y|RP11-165P7.1_ENST00000500498.2_RNA	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	292					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTAAAATCTCTGTCAAAGAA	0.393000													19	64					3.99206e-14	4.21301e-14	1	1	0
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	T	rs139029496		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99002548C>T	ENST00000350498.3	-	2	322	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TATACTGCCTCGCCCGGCCTT	0.632000													15	62					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170752	61170752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61170752G>C	ENST00000382771.4	+	7	1217	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	309					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TGGAATGTCAGAGACCAAGGG	0.438000													29	53					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923556	89923556	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:89923556G>C	ENST00000405460.2	+	7	1297	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	401					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTTGTTTGAAAGGACAGT	0.299000													8	39					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587302	76587302	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:76587302G>A	ENST00000307431.8	+	23	3947	c.3562G>A	c.(3562-3564)Gac>Aac	p.D1188N	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D1116N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D1140N|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D1192N|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1189	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCCACCCAGACCCTGTCAC	0.607000													7	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399910	179399910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179399910G>A	ENST00000589042.1	-	358	101656	c.101432C>T	c.(101431-101433)tCa>tTa	p.S33811L	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31243L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32170L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24746L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24938L|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24871L|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32170	Ig-like 149.						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)			TTCCTTGGTTGAAGAGTGAGA	0.408000													18	59					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61439537	61439537	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61439537G>A	ENST00000370461.1	+	1	2300	c.23G>A	c.(22-24)gGa>gAa	p.G8E	OGFR_ENST00000290291.6_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	0					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GAAAGACACGGAGGGCCCCAG	0.617000											OREG0026118	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10246920	10246920	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:10246920G>A	ENST00000340748.4	-	37	4720	c.4485C>T	c.(4483-4485)ctC>ctT	p.L1495L	DNMT1_ENST00000359526.4_Silent_p.L1511L|DNMT1_ENST00000540357.1_Silent_p.L1498L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1495	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCAGGGGATGAGGGTGTTGA	0.627000													9	34					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075251	140075251	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140075251G>A	ENST00000323927.2	-	8	1603	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCTCGGGGCTGAAGCTGAACT	0.662000													25	67					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410848	105410848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105410848G>T	ENST00000333244.5	-	7	11059	c.10940C>A	c.(10939-10941)tCa>tAa	p.S3647*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3647						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)			TACCCTGAATGACGGCATCTT	0.587000													85	307					1.07134e-49	1.14776e-49	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158582706	158582706	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158582706G>C	ENST00000368147.4	-	51	7215	c.7035C>G	c.(7033-7035)gaC>gaG	p.D2345E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACTCCTTGTCAATCAGGA	0.478000													10	44					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856469	54856469	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54856469C>T	ENST00000333896.5	+	13	2544	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.S733L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	733					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGCAGCTCTCGGCCATTCGG	0.572000													31	96					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51783938	51783938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:51783938G>C	ENST00000251076.5	-	20	5077	c.4790C>G	c.(4789-4791)tCt>tGt	p.S1597C	DMXL2_ENST00000543779.2_Missense_Mutation_p.S1597C|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S961C	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1597						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)		ATGGCATGTAGAGACACCTAA	0.363000													30	77					0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196577	80196577	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80196577G>A	ENST00000581287.1	+	4	3445		c.e4-1		SLC16A3_ENST00000392339.1_Splice_Site|SLC16A3_ENST00000392341.1_Splice_Site|SLC16A3_ENST00000582743.1_Splice_Site	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3						blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TCTTCCCGCAGGCAAACTCCT	0.642000													10	19					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24800506	24800506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24800506C>G	ENST00000310677.4	-	6	839	c.726G>C	c.(724-726)gaG>gaC	p.E242D	ADCY4_ENST00000418030.2_Missense_Mutation_p.E242D|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTGCCATGATCTCTGCCTTCA	0.552000													30	92					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106497	249106497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:249106497G>A	ENST00000366472.5	-	7	2013	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R230C	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGGTTACGAAGGGCCACG	0.682000													15	55					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032537	12032537	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:12032537C>A	ENST00000415385.3	+	10	1059	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P325T	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	325	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAAAGGAGATCCTCCGCAGCT	0.433000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								14	34					4.7546e-09	4.95612e-09	1	1	0
C19orf18	147685	broad.mit.edu	37	19	58477903	58477903	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58477903C>A	ENST00000314391.3	-	4	467	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	122						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CTTACTATATCATATAGGAGA	0.348000													7	22					0.0293803	0.029537	1	1	0
INTS9	55756	broad.mit.edu	37	8	28671062	28671062	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:28671062C>G	ENST00000416984.2	-	6	852	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	INTS9_ENST00000521022.1_Missense_Mutation_p.E186Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E162Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E80Q	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	186					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGTTCACCTCTTGCATTGTA	0.413000													34	101					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111541796	111541796	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:111541796C>T	ENST00000428084.1	-	14	1526	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	DOCK4_ENST00000437633.1_Silent_p.K418K|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	418	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCCACGCTCTTCCCTCCTT	0.358000													7	24					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45811226	45811226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811226G>A	ENST00000372086.3	-	11	1402	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	TESK2_ENST00000341771.6_Silent_p.L305L|TESK2_ENST00000538496.1_Silent_p.L251L|TESK2_ENST00000372084.1_Silent_p.L305L|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	334					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTTTCTCCAAGAGTCCTGAAG	0.463000													12	50					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493965	77493965	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77493965C>T	ENST00000238647.3	-	1	1069	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	57						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GCGCCCGCTTCAGCTGGCGCG	0.692000													9	18					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564794	37564794	+	Missense_Mutation	SNP	G	G	A	rs144178898		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:37564794G>A	ENST00000300651.6	-	17	3903	c.3680C>T	c.(3679-3681)tCa>tTa	p.S1227L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1227	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCAGAACCTGAACTGATAGG	0.507000										HNSCC(31;0.082)			20	68					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050213	49050213	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49050213C>T	ENST00000395474.3	+	2	1616	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.R365C|WDR6_ENST00000608424.1_Missense_Mutation_p.R416C	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	416					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGGAAGGTCGTGTCAAGGT	0.572000													10	49					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366083	47366083	+	RNA	SNP	T	T	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:47366083T>G	ENST00000505841.1	-	0	26					NR_002788.2																						GAGCCATGAGTTCCTGAAGCC	0.532000													6	25					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913064	23913064	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:23913064G>C	ENST00000382298.3	-	10	5539	c.4951C>G	c.(4951-4953)Caa>Gaa	p.Q1651E	SACS_ENST00000382292.3_Missense_Mutation_p.Q1651E|SACS_ENST00000402364.1_Missense_Mutation_p.Q901E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1651					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTTCCTGTTGAGTTCTAAAG	0.388000													13	50					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911682	12911682	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911682G>C	ENST00000435703.1	-	3	454	c.305C>G	c.(304-306)tCa>tGa	p.S102*	PRDX2_ENST00000301522.2_Intron|PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA			P32119	PRDX2_HUMAN	peroxiredoxin 2	0	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						gctaggacctgagggtgtgag	0.557000													3	10					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462822	21462822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:21462822G>A	ENST00000281523.2	-	8	1590	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	358						nucleus	nucleic acid binding|zinc ion binding	p.R358*(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCAGTTCGAAGACTGAAG	0.582000													16	30					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731839	6731839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6731839C>G	ENST00000405858.1	-	5	1275	c.734G>C	c.(733-735)gGa>gCa	p.G245A	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.G171A|ZNF12_ENST00000342651.5_Missense_Mutation_p.G207A	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	245					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATTTCAGATCCATTCCACTT	0.393000													11	32					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42335283	42335283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:42335283C>G	ENST00000379310.3	-	21	2475	c.2407G>C	c.(2407-2409)Gaa>Caa	p.E803Q	VWA8_ENST00000281496.6_Missense_Mutation_p.E803Q	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGAATATATTCTCGGGGTCTG	0.348000													17	84					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85770125	85770125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770125G>C	ENST00000306434.3	+	8	1176	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	MAT2A_ENST00000409017.1_Missense_Mutation_p.K288N	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	351					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTGTGAAGAAGAATTTCGATC	0.413000													16	60					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058933	11058933	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:11058933G>T	ENST00000287766.4	+	3	457	c.36G>T	c.(34-36)caG>caT	p.Q12H	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR|SLC6A1_ENST00000536032.1_5'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	12					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGACGGGCAGATCTCCACCG	0.642000													23	68					5.35356e-11	5.60456e-11	1	1	0
IFT172	26160	broad.mit.edu	37	2	27700949	27700949	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27700949C>T	ENST00000260570.3	-	11	1183	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	IFT172_ENST00000359466.6_Silent_p.V360V|IFT172_ENST00000416524.2_Silent_p.V339V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	360					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTAGGATTTTCACCTCTTCCA	0.493000													55	147					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003758	44003758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44003758G>A	ENST00000372726.3	-	4	845	c.689C>T	c.(688-690)tCc>tTc	p.S230F	TP53TG5_ENST00000537995.1_Missense_Mutation_p.S214F|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	230					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ACGCAGGGTGGAGGATCTGCA	0.597000													28	79					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4851876	4851876	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:4851876C>T	ENST00000602557.1	-	1	618	c.63G>A	c.(61-63)gcG>gcA	p.A21A	CSMD1_ENST00000537824.1_Silent_p.A21A|CSMD1_ENST00000400186.3_Silent_p.A21A|CSMD1_ENST00000539096.1_Silent_p.A21A|CSMD1_ENST00000602723.1_Silent_p.A21A|CSMD1_ENST00000520002.1_Silent_p.A21A|CSMD1_ENST00000542608.1_Silent_p.A21A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	21						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGAGCCTCGCGCACAGCA	0.647000													7	46					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339221	72339221	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:72339221G>T	ENST00000389916.4	+	5	516	c.378G>T	c.(376-378)caG>caT	p.Q126H		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	126	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTATGTTCAGACCCTCAACG	0.602000													11	23					3.07112e-06	3.15668e-06	1	1	0
TXNRD1	7296	broad.mit.edu	37	12	104719163	104719163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104719163C>T	ENST00000526691.1	+	9	1426	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	TXNRD1_ENST00000542918.1_Nonsense_Mutation_p.Q322*|TXNRD1_ENST00000540716.1_Nonsense_Mutation_p.Q234*|TXNRD1_ENST00000427956.1_Nonsense_Mutation_p.Q387*|TXNRD1_ENST00000526390.1_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000378070.4_Nonsense_Mutation_p.Q371*|TXNRD1_ENST00000429002.2_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000388854.3_Nonsense_Mutation_p.Q324*|TXNRD1_ENST00000397736.2_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000525566.1_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000526950.1_Nonsense_Mutation_p.Q341*|TXNRD1_ENST00000529546.1_Nonsense_Mutation_p.Q234*|TXNRD1_ENST00000524698.1_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000354940.6_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000503506.2_Nonsense_Mutation_p.Q272*	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	422					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						AGTAGTAGCTCAGTCCACCAA	0.383000													4	16					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050022	44050022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:44050022C>G	ENST00000543989.1	-	6	1897	c.192G>C	c.(190-192)caG>caC	p.Q64H	ABCG5_ENST00000260645.1_Missense_Mutation_p.Q459H|ABCG5_ENST00000405322.1_Missense_Mutation_p.Q288H			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	459	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCCACTTCTGGTAGAGGC	0.572000													17	35					0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065463	3065463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3065463G>T	ENST00000396925.1	-	3	988	c.560C>A	c.(559-561)tCg>tAg	p.S187*	CLDN6_ENST00000328796.4_Nonsense_Mutation_p.S187*|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	187					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGACCCCCCCGAGGGGCAAGT	0.652000													16	53					1.37285e-15	1.45155e-15	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151904469	151904469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151904469C>A	ENST00000355193.2	-	24	3975	c.3757G>T	c.(3757-3759)Gag>Tag	p.E1253*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E1253*					lysine (K)-specific methyltransferase 2C																		GCTTCCCGCTCAGGACTAGAT	0.388000													10	45					6.40141e-05	6.5088e-05	1	1	0
BTG2	7832	broad.mit.edu	37	1	203274737	203274737	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203274737G>A	ENST00000290551.4	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	1					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.M1I(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CGCGCGACATGAGCCACGGGA	0.697000													3	10					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127331	62127331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62127331C>G	ENST00000217182.3	-	3	367	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	EEF1A2_ENST00000298049.7_Missense_Mutation_p.E68Q	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	68						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			ATGCCGCGCTCACGCTCCGCC	0.612000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	118					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769390	13769390	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:13769390C>T	ENST00000609686.1	-	5	1536	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E443K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCATACTCAGTGACTATG	0.527000													16	50					0	0	1	0	0
SRSF9	8683	broad.mit.edu	37	12	120907289	120907289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120907289C>T	ENST00000229390.3	-	1	307	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	42	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCTCGATCTCGCGGATGCGG	0.692000													18	57					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113300209	113300209	+	Splice_Site	SNP	G	G	A	rs35187239		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113300209G>A	ENST00000264852.4	+	6	1391	c.665G>A	c.(664-666)tGc>tAc	p.C222Y	SIDT1_ENST00000393830.3_Splice_Site_p.C222Y	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	222						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ATGCTGCAGTGCCCGGTGTAT	0.463000													15	39					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88822464	88822464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822464C>T	ENST00000277865.4	-	6	966	c.870G>A	c.(868-870)atG>atA	p.M290I	GLUD1_ENST00000537649.1_Missense_Mutation_p.M123I|GLUD1_ENST00000544149.1_Missense_Mutation_p.M157I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	290					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTAAAATGCTCATGTAAGAAG	0.388000													13	27					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826490	95826490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95826490C>G	ENST00000524717.1	-	2	1989	c.705G>C	c.(703-705)atG>atC	p.M235I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	235					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTGCTTGGCTCATAGGCAAGG	0.468000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								15	56					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175673765	175673765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:175673765C>T	ENST00000409900.3	-	11	1283	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.E298K|CHN1_ENST00000409597.1_Missense_Mutation_p.E140K|CHN1_ENST00000295497.7_Missense_Mutation_p.E199K	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	324	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTGCCTTCTCACCATCTTTT	0.318000			T	TAF15	extraskeletal myxoid chondrosarcoma								9	32					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643397	138643397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:138643397C>T	ENST00000394800.2	+	6	842	c.293C>T	c.(292-294)tCt>tTt	p.S98F	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.S98F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.S98F|MATR3_ENST00000502929.1_Missense_Mutation_p.S98F|MATR3_ENST00000394805.3_Missense_Mutation_p.S98F|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.S98F			P43243	MATR3_HUMAN	matrin 3	98						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCTTTATCTTCTCAACAC	0.443000													24	77					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362193	9362193	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9362193C>T	ENST00000456448.1	+	1	588	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCCACGCCTCTGTGGCTTCT	0.458000													10	44					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831892	40831892	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831892G>A	ENST00000591765.1	-	2	1487	c.102C>T	c.(100-102)ttC>ttT	p.F34F	CCR10_ENST00000332438.4_Silent_p.F256F			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	256						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGCACCACGAAGGCCGCCA	0.711000													5	18					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785491	134785491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134785491G>A	ENST00000537858.1	-	2	339	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	47	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTGCAGCTGGAGGTGGGCG	0.672000													27	75					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417256G>T	ENST00000439576.2	+	17	7890		c.e17+1		ACAN_ENST00000561243.1_Splice_Site|ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657000													15	36					3.27435e-08	3.40685e-08	1	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55406893	55406893	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:55406893C>G	ENST00000398661.2	-	3	375	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HMGCLL1_ENST00000508459.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.E52Q	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGCCCAACTTCTACTATTTTA	0.318000													4	25					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80553673	80553673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80553673G>C	ENST00000424301.2	+	8	1115	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	293	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGGACTAAAAGAAGTAAGATG	0.358000													8	33					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883708	28883708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28883708C>T	ENST00000337120.5	+	6	5002	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000538342.1_Nonsense_Mutation_p.Q235*|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000359285.5_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000545570.1_Nonsense_Mutation_p.Q261*	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	571	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTTCAACTTCCAGGGCAAGGC	0.617000													20	60					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486038C>T	ENST00000342292.4	-	11	3434	c.3414G>A	c.(3412-3414)gtG>gtA	p.V1138V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1138						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632000													37	126					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678634	149678634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149678634G>A	ENST00000344229.3	+	11	1591	c.889G>A	c.(889-891)Gac>Aac	p.D297N	RNF13_ENST00000392894.3_Missense_Mutation_p.D297N|RNF13_ENST00000361785.6_Missense_Mutation_p.D178N	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	297					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTGACACAGACAGTAGTCA	0.448000													20	61					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105948061	105948061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105948061C>T	ENST00000357060.3	-	13	1769	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	WDR96_ENST00000278064.2_Missense_Mutation_p.E483K|WDR96_ENST00000428666.1_Missense_Mutation_p.E553K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	552										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGAACATCTCCAACCTGCTT	0.438000													18	48					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219580	180219580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:180219580G>A	ENST00000446023.2	-	3	1142	c.392C>T	c.(391-393)tCg>tTg	p.S131L	MGAT1_ENST00000333055.3_Missense_Mutation_p.S131L|MGAT1_ENST00000427865.2_Missense_Mutation_p.S131L|MGAT1_ENST00000307826.4_Missense_Mutation_p.S131L|MGAT1_ENST00000393340.3_Missense_Mutation_p.S131L	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	131					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTCAGCCGAGGGCCGATA	0.672000													19	65					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63156421	63156421	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:63156421C>G	ENST00000449996.3	+	4	348	c.276C>G	c.(274-276)ctC>ctG	p.L92L	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Silent_p.L92L|RGS9_ENST00000443584.3_Silent_p.L92L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	92	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCAAGAATCTCATTCTCAAGC	0.478000													24	84					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756722	54756722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:54756722C>T	ENST00000551809.1	-	1	1549	c.914G>A	c.(913-915)aGa>aAa	p.R305K	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305K|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507000													50	147					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917594	48917594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48917594G>C	ENST00000311378.4	+	2	1473	c.945G>C	c.(943-945)gaG>gaC	p.E315D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCACCTCAGAGAGCAGCCCCA	0.662000													22	72					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790213	80790213	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80790213G>C	ENST00000269394.3	-	2	951	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	40						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGATTAAAAAGATGTGACTTC	0.418000													71	62					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727843	6727843	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:6727843C>T	ENST00000377577.5	-	4	427	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DNAJC11_ENST00000377573.5_Missense_Mutation_p.E12K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.E64K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.E102K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.E64K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	102					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAATTTCAGCAGGGGTT	0.522000													17	45					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121547781	121547781	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547781C>A	ENST00000310864.6	-	3	241	c.27G>T	c.(25-27)agG>agT	p.R9S	IQCB1_ENST00000349820.6_Missense_Mutation_p.R9S	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	9					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TAGATAAGATCCTTGGGTCTG	0.348000													6	40					0.00116845	0.00118168	1	1	0
TMEM95	339168	broad.mit.edu	37	17	7258907	7258907	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7258907G>A	ENST00000389982.4	+	2	254	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TMEM95_ENST00000330767.4_Missense_Mutation_p.E58K|TMEM95_ENST00000576060.1_Missense_Mutation_p.E58K			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	58						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTCCACAGATGAGGTGTCCAT	0.547000													4	6					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97769626	97769626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:97769626G>C	ENST00000371198.2	+	12	1379	c.339G>C	c.(337-339)aaG>aaC	p.K113N	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K22N|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K22N|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	22										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATATAAGAAAGAATTGGCTTG	0.338000													11	36					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136626	9136626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:9136626G>C	ENST00000382496.5	-	13	2254	c.1589C>G	c.(1588-1590)tCt>tGt	p.S530C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	530					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACACGCAGAGATGCTCTG	0.577000													11	46					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76638345	76638345	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76638345C>G	ENST00000261530.7	+	4	953	c.887C>G	c.(886-888)tCt>tGt	p.S296C	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S296C	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CTTTTACCTTCTCGGCCAGCT	0.443000													22	57					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98533223	98533223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:98533223G>A	ENST00000359863.4	+	28	4245	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1346					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTGAGGCTGAAGATTCAGC	0.388000													7	30					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856220	21856220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:21856220G>A	ENST00000328843.6	+	65	10520	c.10489G>A	c.(10489-10491)Gag>Aag	p.E3497K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3490K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3497	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACACACTGTGAGCGCTGGCC	0.488000									Kartagener syndrome				9	27					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32914744	32914744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:32914744C>T	ENST00000304056.4	-	3	895	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'UTR	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	66	BTB.									endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGTTTGCTTTCACTTAGTCCA	0.393000													35	142					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56358002	56358002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56358002G>C	ENST00000340482.3	-	1	294	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	MPO_ENST00000225275.3_Missense_Mutation_p.L40V			P05164	PERM_HUMAN	myeloperoxidase	40					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.L40V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCGTGGCCAGAATGGCCAGG	0.582000													23	80					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46715746	46715746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:46715746G>C	ENST00000371975.4	+	3	839	c.165G>C	c.(163-165)ttG>ttC	p.L55F	RAD54L_ENST00000442598.1_Missense_Mutation_p.L55F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	55					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGAAACCTTTGAGTCAGCTAA	0.498000								Direct reversal of damage;Homologous recombination					32	97					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66453431	66453431	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:66453431T>C	ENST00000246868.2	-	5	863	c.680A>G	c.(679-681)gAa>gGa	p.E227G		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	227					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GCCTTTAGTTTCCTTTTTTAT	0.388000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				16	48					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075366	83075366	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:83075366C>G	ENST00000369750.3	+	2	1305	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	TPBG_ENST00000535040.1_Missense_Mutation_p.L230V|TPBG_ENST00000543496.1_Missense_Mutation_p.L230V			Q13641	TPBG_HUMAN	trophoblast glycoprotein	230					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGGGATGTGCTGGCCCAACT	0.627000													42	128					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65390566	65390566	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:65390566C>G	ENST00000519389.1	+	2	495	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	HEPH_ENST00000419594.1_Missense_Mutation_p.L55V|HEPH_ENST00000441993.2_Missense_Mutation_p.L55V|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.L52V|HEPH_ENST00000374727.3_Missense_Mutation_p.L55V			Q9BQS7	HEPH_HUMAN	hephaestin	52	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAACCAGCCTCTGGACAGTGA	0.507000													9	11					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40313303	40313303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:40313303G>A	ENST00000316891.5	-	7	859	c.845C>T	c.(844-846)tCa>tTa	p.S282L	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.S200L|TRIT1_ENST00000372818.1_Missense_Mutation_p.S282L|TRIT1_ENST00000545233.1_Missense_Mutation_p.S36L|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	282	Interaction with substrate tRNA (By similarity).				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGCCAATTGATTGGAAGAT	0.458000													43	111					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122983381	122983381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:122983381G>C	ENST00000336229.4	-	2	365	c.235C>G	c.(235-237)Cga>Gga	p.R79G	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	79						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTCGGTCGAGTCAGAATG	0.294000													5	14					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148514356	148514356	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148514356G>A	ENST00000320356.2	-	11	1489	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	EZH2_ENST00000350995.2_Silent_p.F412F|EZH2_ENST00000460911.1_Silent_p.F451F|EZH2_ENST00000478654.1_Silent_p.F442F|EZH2_ENST00000483967.1_Silent_p.F442F|EZH2_ENST00000476773.1_Silent_p.F442F|EZH2_ENST00000541220.1_Silent_p.F442F	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)	451					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)			CAATGGCACAGAAATTGTCAT	0.378000			Mis		DLBCL								7	23					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744637	98744637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98744637G>C	ENST00000286067.2	+	1	3597	c.3490G>C	c.(3490-3492)Gaa>Caa	p.E1164Q		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1164										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTCCAGGAAAGAAAAAGAGAA	0.493000													23	58					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162482610	162482610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162482610G>A	ENST00000489294.1	+	6	1179	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.E267K|UHMK1_ENST00000538489.1_Missense_Mutation_p.E341K	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	341	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGAGGAATATGAAGGTTAGTG	0.328000													35	81					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381763	109381763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109381763G>A	ENST00000283195.6	+	20	4894	c.4768G>A	c.(4768-4770)Gag>Aag	p.E1590K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1590					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTACTTCAGAGACAAGCAA	0.453000													43	125					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621763	234621763	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234621763C>G	ENST00000373414.3	+	1	126	c.126C>G	c.(124-126)ctC>ctG	p.L42L	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Silent_p.L42L|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron																cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCACTGGCTCAGCATGCGGG	0.602000													17	72					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31316392	31316392	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:31316392G>A	ENST00000265071.2	+	9	1733	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	CDH6_ENST00000514738.1_Missense_Mutation_p.E435K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	490	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAATTTGCTGAGTTCTATGA	0.333000													6	27					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28720060C>G	ENST00000257197.3	-	10	1726	c.1465G>C	c.(1465-1467)Gaa>Caa	p.E489Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E489Q	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428000													22	74					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733177	52733177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:52733177G>A	ENST00000360540.5	-	7	1214	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.Q194*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.Q270*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	270						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGAGCCCTTTGAGGAATCCCC	0.428000													9	143					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102462632	102462632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:102462632C>G	ENST00000393772.2	-	18	2215	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	FBXL13_ENST00000379305.3_Missense_Mutation_p.E597Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.E625Q|FBXL13_ENST00000456695.1_Missense_Mutation_p.E343Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E625Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E580Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.E580Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E343Q			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	625										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GATAACATCTCCATTGCTGAG	0.428000													19	56					0	0	1	0	0
CXCL13	10563	broad.mit.edu	37	4	78528941	78528941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:78528941G>A	ENST00000286758.4	+	3	227	c.149G>A	c.(148-150)cGa>cAa	p.R50Q		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	50					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TTCATTGATCGAATTCAAATC	0.393000													21	66					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145844	98145844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98145844G>A	ENST00000357947.3	-	15	2206	c.1981C>T	c.(1981-1983)Cag>Tag	p.Q661*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	661	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTCAAACTGAAGGGAGATC	0.522000													23	73					0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801049	111801049	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:111801049G>C	ENST00000450786.2	-	2	286	c.125C>G	c.(124-126)tCa>tGa	p.S42*	FAM109A_ENST00000548163.1_Missense_Mutation_p.I61M|FAM109A_ENST00000361483.3_Missense_Mutation_p.I74M|FAM109A_ENST00000547838.2_Missense_Mutation_p.I61M|FAM109A_ENST00000392658.5_Missense_Mutation_p.I61M			Q8N4B1	SESQ1_HUMAN	family with sequence similarity 109, member A	0	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CCTCCAGGATGATGACGCCCA	0.701000													13	49					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566063	142566063	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142566063T>C	ENST00000392957.2	+	14	2770	c.1983T>C	c.(1981-1983)ctT>ctC	p.L661L	EPHB6_ENST00000411471.2_Silent_p.L384L|EPHB6_ENST00000442129.1_Silent_p.L661L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	661						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCCGAGAACTTGCCCGGGAAG	0.567000													20	79					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831733	40831733	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831733G>C	ENST00000591765.1	-	2	1646	c.261C>G	c.(259-261)ctC>ctG	p.L87L	CCR10_ENST00000332438.4_Silent_p.L309L			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	309						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGGCGTAGAGAACGGGAT	0.721000													5	40					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76422558	76422558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76422558C>G	ENST00000389840.5	-	79	13088	c.12964G>C	c.(12964-12966)Gac>Cac	p.D4322H	DNAH17_ENST00000585328.1_Missense_Mutation_p.D4294H|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_Silent_p.V50V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCAGCAGGTCTGCGTACCAG	0.627000													14	31					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262700	69262700	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:69262700G>A	ENST00000408913.2	-	1	490	c.312C>T	c.(310-312)ctC>ctT	p.L104L				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGCCGAGGCGAGGCGTGCGT	0.761000													4	24					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754887	167754887	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:167754887C>G	ENST00000239587.5	+	3	1587	c.1499C>G	c.(1498-1500)tCa>tGa	p.S500*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	500					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTTCATCTGTCAACAAGGGAG	0.567000													18	91					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60789729	60789729	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:60789729C>T	ENST00000335670.6	-	11	1597	c.1497G>A	c.(1495-1497)gtG>gtA	p.V499V	RORA_ENST00000309157.4_Silent_p.V524V|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Silent_p.V532V|RORA_ENST00000449337.2_Silent_p.V444V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	532	Ligand-binding.			I -> M (in Ref. 2; AAA02963).	positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AATGAAGTCGCACAATGTCTG	0.378000													10	44					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555327	125555327	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555327G>C	ENST00000522532.1	+	2	148		c.e2-1		NDUFB9_ENST00000518008.1_Splice_Site|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Splice_Site			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TTTGGTTTAAGAGACAAATAC	0.453000													14	63					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47254118	47254118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:47254118C>G	ENST00000296861.2	-	2	703	c.310G>C	c.(310-312)Gag>Cag	p.E104Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	104					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGGCATTTCTCTATGCCATTC	0.522000													46	124					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794764	109794764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109794764C>T	ENST00000271332.3	+	1	2124	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	688	Cadherin 5.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTACCGCCTCCGATGGCACT	0.557000													40	65					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57333096G>A	ENST00000326441.9	-	7	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S|PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	198					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537000													38	126					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283449	152283449	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:152283449C>T	ENST00000368799.1	-	3	3948	c.3913G>A	c.(3913-3915)Ggc>Agc	p.G1305S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1305	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)			tgtctggagccatctcttgac	0.547000									Ichthyosis				82	258					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118704476	118704476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118704476C>T	ENST00000355371.4	-	8	1167	c.670G>A	c.(670-672)Gag>Aag	p.E224K	KIAA1598_ENST00000260777.10_Missense_Mutation_p.E224K|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E224K|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E164K	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	224					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGGTCCTTCTCCAGCTCCAGG	0.393000													51	199					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879900	1879900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:1879900C>T	ENST00000505790.1	-	5	910	c.454G>A	c.(454-456)Gag>Aag	p.E152K	IRX4_ENST00000231357.2_Missense_Mutation_p.E152K|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E152K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	152					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTGGTGGTCTCGCGCGTGGCG	0.642000													40	93					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378098	19378098	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:19378098C>T	ENST00000550708.1	+	1	577	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGGATTTCTGTGGTTCCT	0.483000													11	274					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642000													55	163					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831709	40831709	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831709G>A	ENST00000591765.1	-	2	1670	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CCR10_ENST00000332438.4_Silent_p.F317F			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	317						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGTCCTGGCGGAAGCGCAGGC	0.706000													11	41					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30619214	30619214	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30619214C>T	ENST00000293604.6	+	4	1471	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	C6orf136_ENST00000376473.5_Silent_p.F245F|C6orf136_ENST00000528347.2_Silent_p.F102F|C6orf136_ENST00000376471.4_Silent_p.F111F	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	245										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTTGCGGTTCTACAAGCGTG	0.498000													103	366					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929894	24929894	+	Missense_Mutation	SNP	G	G	A	rs144856306		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24929894G>A	ENST00000405141.1	+	14	2266	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	NCOA1_ENST00000288599.5_Missense_Mutation_p.V519I|NCOA1_ENST00000406961.1_Missense_Mutation_p.V519I|NCOA1_ENST00000348332.3_Missense_Mutation_p.V519I|NCOA1_ENST00000407230.1_Missense_Mutation_p.V368I|NCOA1_ENST00000395856.3_Missense_Mutation_p.V519I|NCOA1_ENST00000538539.1_Missense_Mutation_p.V519I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	519	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTCTCCCGTTGGCATGAC	0.423000			T	PAX3	alveolar rhadomyosarcoma								22	68					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151358368	151358368	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:151358368C>A	ENST00000370314.4	-	9	1215	c.977G>T	c.(976-978)aGa>aTa	p.R326I	GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.R326I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	326					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAAGGAATTTCTGGCACTGAT	0.458000													20	29					1.66031e-10	1.73708e-10	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44678355	44678355	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44678355G>A	ENST00000243964.3	+	17	2205	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S	SLC12A5_ENST00000454036.2_Missense_Mutation_p.G726S	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	726					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCGGGGAAGGGCCTGACCAT	0.622000													3	8					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248873	140248873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140248873G>A	ENST00000398640.2	+	1	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCAGCGCCTGTTCCGG	0.617000													65	257					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323448	15323448	+	RNA	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:15323448T>C	ENST00000344693.5	-	0	862					NR_027270.1																						GGATCTTCCATTTCAGTGCTA	0.308000													4	56					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258675	73258675	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73258675G>A	ENST00000579761.1	+	2	408	c.181G>A	c.(181-183)Gag>Aag	p.E61K	MRPS7_ENST00000245539.6_Missense_Mutation_p.E61K|MRPS7_ENST00000579002.1_Missense_Mutation_p.E90K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	61					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCTAACTGAGGAGGAGAAATA	0.473000													45	188					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55310749	55310749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55310749G>A	ENST00000491895.2	-	6	927	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	GCH1_ENST00000395514.1_Missense_Mutation_p.L247F|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000543643.2_Intron	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	247					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						CTCCTAATGAGAGTCAGGAAC	0.483000													34	87					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27403470	27403470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27403470C>G	ENST00000326799.3	-	19	2306	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	YME1L1_ENST00000376016.3_Missense_Mutation_p.E663Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.E630Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	720					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCTTATTTCTTGTTCGATG	0.328000													10	39					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42463781	42463781	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:42463781G>A	ENST00000396398.3	-	3	844	c.312C>T	c.(310-312)ttC>ttT	p.F104F	NAGA_ENST00000402937.1_Silent_p.F104F|NAGA_ENST00000403363.1_Silent_p.F104F	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	104					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGTCAGCCAGGAAAGGAATGC	0.587000													30	95					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61058812	61058812	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:61058812G>A	ENST00000335613.5	-	3	605	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	73	EGF-like 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCACAGCCGAAGGAGCAGA	0.642000													3	26					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874680	10874680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:10874680G>A	ENST00000379491.4	-	5	1216	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	357					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TAATAAGGGCGAGTGGCCATG	0.532000													89	78					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063502	76063502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063502G>C	ENST00000260045.3	-	5	797	c.692C>G	c.(691-693)tCa>tGa	p.S231*		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	231					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CTGTGTTTTTGAACAAAACAA	0.438000													11	32					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30969307	30969307	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30969307C>G	ENST00000298139.5	+	19	2514	c.2265C>G	c.(2263-2265)gtC>gtG	p.V755V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	755	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CATTTCTTGTCAAAACAAGGT	0.328000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	31					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396921	85396921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:85396921C>G	ENST00000316398.3	-	1	399	c.253G>C	c.(253-255)Gat>Cat	p.D85H		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	85						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGCCTCATCTGACCTCCGC	0.592000													22	59					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74363522	74363522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:74363522C>T	ENST00000355773.5	-	1	356	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	SLC17A5_ENST00000393019.3_Missense_Mutation_p.E30K	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	30					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTACCGGCTTCGGCCCGTGGG	0.726000													4	9					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132051183	132051183	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:132051183G>T	ENST00000336375.5	+	4	541	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	ACPP_ENST00000475741.1_Missense_Mutation_p.D151Y|ACPP_ENST00000351273.7_Missense_Mutation_p.D151Y|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	151						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTTTCTGAAGATCAGGTCAG	0.517000													12	44					6.40141e-05	6.5088e-05	1	1	0
DOK7	285489	broad.mit.edu	37	4	3494825	3494825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3494825C>T	ENST00000340083.5	+	7	1177	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	DOK7_ENST00000389653.2_Missense_Mutation_p.S371L|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	371					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAACTGGGCTCACTGCTCAGC	0.701000													6	19					0	0	1	0	0
MLEC	9761	broad.mit.edu	37	12	121132759	121132759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121132759G>A	ENST00000228506.3	+	3	975	c.547G>A	c.(547-549)Gag>Aag	p.E183K	MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	183					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGTCCAGGGGGAGGTGTCCAC	0.478000													47	121					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50453669	50453669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:50453669G>A	ENST00000228468.4	+	3	875	c.490G>A	c.(490-492)Gac>Aac	p.D164N	ASIC1_ENST00000447966.2_Missense_Mutation_p.D164N	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	164					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGCTGGGCACGACATTCGAGA	0.567000													10	40					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293417	62293417	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293417C>G	ENST00000378024.4	-	5	8746	c.8472G>C	c.(8470-8472)aaG>aaC	p.K2824N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2824					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTCTGGCATCTTAAACTTTG	0.428000													37	128					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143396400	143396400	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:143396400G>C	ENST00000519651.1	-	6	481	c.378C>G	c.(376-378)ctC>ctG	p.L126L	TSNARE1_ENST00000520166.1_Silent_p.L345L|TSNARE1_ENST00000307180.3_Silent_p.L346L|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Silent_p.L345L			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	346					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCATCTGAGAGCTGGGTTT	0.652000													21	103					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34262520	34262520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34262520G>C	ENST00000374092.4	-	9	1038	c.968C>G	c.(967-969)tCa>tGa	p.S323*	NFS1_ENST00000541387.1_Nonsense_Mutation_p.S272*|NFS1_ENST00000374085.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000397425.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000540053.1_Nonsense_Mutation_p.S121*	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	323					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACAACTTTGAGATTCGCTT	0.463000													13	60					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68196080	68196080	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68196080G>C	ENST00000551171.1	+	8	1155	c.831G>C	c.(829-831)ctG>ctC	p.L277L	RDH12_ENST00000267502.3_Silent_p.L277L|RDH12_ENST00000539142.1_Silent_p.L277L	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	277					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGGAGCCCCTGAGTGGCAAGT	0.637000													25	81					0	0	1	0	0
ZNF767	79970	broad.mit.edu	37	7	149318530	149318530	+	RNA	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:149318530A>C	ENST00000463567.1	-	0	306					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GTCTTCTCGCAATCAGCCAGC	0.612000													46	115					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110619	7110619	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:7110619G>A	ENST00000306904.5	+	1	455	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	90						nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCGGCGTTCGAGAGCAGCCG	0.736000													6	22					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34065861	34065861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065861G>C	ENST00000397527.1	+	17	2749	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E677Q|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	677	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGCTGGGGCTGAGCTGCAGGC	0.532000													5	40					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975573	70975573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:70975573C>T	ENST00000393567.2	-	43	6969	c.6819G>A	c.(6817-6819)atG>atA	p.M2273I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2273										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTGGGCCTTCATGGCTGCGT	0.527000													30	119					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99453289	99453289	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99453289T>A	ENST00000354829.2	+	8	849	c.746T>A	c.(745-747)tTa>tAa	p.L249*	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Nonsense_Mutation_p.L249*|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Nonsense_Mutation_p.L249*|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Nonsense_Mutation_p.L139*	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	249			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCCATTTTTTAAAAAATTCC	0.313000													7	17					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86952367	86952367	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:86952367C>T	ENST00000234701.3	+	8	1464	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CLCA1_ENST00000394711.1_Silent_p.L371L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	371	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGACACACTCGCCAAAAGAT	0.488000													31	82					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59911184G>A	ENST00000396065.1	+	3	1195	c.747G>A	c.(745-747)agG>agA	p.R249R	GCNT3_ENST00000560585.1_Silent_p.R249R	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	249					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAATGGGAGGAATAGCATGG	0.458000													58	139					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73919562	73919562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73919562C>G	ENST00000586717.1	-	13	1360	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	FBF1_ENST00000319129.5_Missense_Mutation_p.E362Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E363Q			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	362										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGATGGGCCTCTCTGGTGGGT	0.652000													4	14					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344666	20344666	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20344666G>C	ENST00000298642.2	+	1	276	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K80N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACCCCAAAGATGATTACAG	0.413000													37	417					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6692953	6692953	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6692953C>T	ENST00000245907.6	-	26	3464	c.3372G>A	c.(3370-3372)gtG>gtA	p.V1124V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1124					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)		CTTGGTGTATCACGGGCGCAT	0.562000													48	185					0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3590172	3590172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3590172G>C	ENST00000322315.5	+	6	968	c.923G>C	c.(922-924)aGa>aCa	p.R308T		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	308										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGGCCAGAGAGGCCTGT	0.687000													4	10					0	0	1	0	0
N6AMT2	221143	broad.mit.edu	37	13	21331662	21331662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:21331662C>G	ENST00000382758.1	-	2	123	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	N6AMT2_ENST00000460374.1_5'UTR|N6AMT2_ENST00000382754.4_Missense_Mutation_p.E26Q			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	26							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGCTTTTGCTCAGCATAAAAT	0.408000													21	59					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477493	58477493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:58477493C>T	ENST00000344743.3	-	6	778	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GLYAT_ENST00000529732.1_Missense_Mutation_p.E213K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	213					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGGGTCCCCTCAGGCCCCAGG	0.537000													19	82					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135226	33135226	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33135226G>A	ENST00000341947.2	-	56	4326	c.4099C>T	c.(4099-4101)Ctg>Ttg	p.L1367L	COL11A2_ENST00000374708.4_Silent_p.L1281L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000361917.1_Silent_p.L1260L|COL11A2_ENST00000395197.1_Silent_p.L1307L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1367	Triple-helical region.				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						AGCCCCCTCAGACCATCAGGG	0.662000													20	53					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979392	92979392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92979392C>T	ENST00000370331.1	-	18	2263	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	EVI5_ENST00000540033.1_Missense_Mutation_p.E752K|EVI5_ENST00000543509.1_Missense_Mutation_p.E763K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	752	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACACCAGTTTCCTGTAAGGAA	0.428000													17	81					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683002	67683002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67683002C>G	ENST00000334583.6	+	18	1943	c.1615C>G	c.(1615-1617)Ctg>Gtg	p.L539V	RLTPR_ENST00000545661.1_Missense_Mutation_p.L503V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	539										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CATGGTGACTCTGGTGCTGGC	0.617000													14	25					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346722	346722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:346722G>A	ENST00000400256.3	-	5	1107	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	300					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATAGTGGTGATGTTCTCCA	0.502000													19	65					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947953	40947953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40947953G>A	ENST00000246914.5	+	16	3354	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1111					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGTGTGGATGAACTACTCCT	0.587000													24	61					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617591	37617591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617591G>C	ENST00000399151.3	+	19	3398	c.3313G>C	c.(3313-3315)Gac>Cac	p.D1105H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1105					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGCGCCCCGGACAGCAGCGA	0.647000													21	104					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69039652	69039652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:69039652C>T	ENST00000288368.4	+	31	4041	c.3764C>T	c.(3763-3765)tCa>tTa	p.S1255L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1255					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGAATATTCAGGTAACATT	0.353000													15	55					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320678	100320678	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100320678C>G	ENST00000252723.2	+	5	685	c.504C>G	c.(502-504)ctC>ctG	p.L168L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	168					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCCGCAAACTCTTCCGAGTCT	0.567000													57	169					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49270356	49270356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:49270356G>A	ENST00000586178.1	-	15	1820	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.R493C	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	493					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTCCTACACGAAATCCGTGA	0.363000													33	86					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55206499	55206499	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55206499C>T	ENST00000396834.1	+	14	2080	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	IL31RA_ENST00000447346.2_Splice_Site_p.F547F|IL31RA_ENST00000490985.1_Splice_Site_p.F405F|IL31RA_ENST00000354961.4_Splice_Site_p.F528F|IL31RA_ENST00000359040.5_Splice_Site_p.F547F	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	515					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CATTGTCATTCAGTGAGTATT	0.463000													34	106					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226163	114226163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114226163G>A	ENST00000307546.9	+	21	4048	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1350					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATGCTGAGCAGATCCC	0.423000													18	52					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33977735	33977735	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:33977735C>T	ENST00000262325.7	+	13	2276	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y	AP2B1_ENST00000592545.1_Missense_Mutation_p.H537Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H518Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H575Y|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.H575Y|AP2B1_ENST00000312678.8_Missense_Mutation_p.H575Y	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	575					axon guidance|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|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGTGTATCATAAGCCTCC	0.463000													46	106					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55535955	55535955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:55535955C>G	ENST00000436346.1	-	25	5218	c.4377G>C	c.(4375-4377)aaG>aaC	p.K1459N	CCDC88A_ENST00000422883.2_Missense_Mutation_p.K82N|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1459N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K1458N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1458N|AC012358.8_ENST00000366287.4_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1459					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTGCTTTTCTTGGTCCCCA	0.393000													14	30					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77736073	77736073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:77736073C>G	ENST00000407578.2	-	44	6831	c.6565G>C	c.(6565-6567)Gac>Cac	p.D2189H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2151H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2151H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTTCAAGGTCTTCTTCTAAT	0.294000													11	60					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148206577	148206577	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:148206577C>T	ENST00000305988.4	+	1	422	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	61					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TTGCCAAGTTCGAGCGTCTGC	0.582000													24	75					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92752071	92752071	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752071G>A	ENST00000370360.3	-	7	792	c.711C>T	c.(709-711)ttC>ttT	p.F237F	GLMN_ENST00000534881.1_Silent_p.F237F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	237					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CAAAATACCTGAAAGGATCAT	0.333000									Multiple Glomus Tumors (of the Skin), Familial				16	38					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639408	70639408	+	Missense_Mutation	SNP	G	G	C	rs151153446	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70639408G>C	ENST00000322773.4	+	6	584	c.482G>C	c.(481-483)cGa>cCa	p.R161P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	161	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTAGAAATCGAGAACTCCGT	0.378000													19	65					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467705	6467705	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6467705G>C	ENST00000381480.2	-	23	2328	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	DENND1C_ENST00000543576.1_Nonsense_Mutation_p.S695*	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	739						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ACTGGGGTCTGAGGAAGGATC	0.632000													8	29					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79941448	79941448	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:79941448C>T	ENST00000306729.7	+	3	274	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ASPSCR1_ENST00000581647.1_Silent_p.L59L|ASPSCR1_ENST00000306739.4_Silent_p.L59L|ASPSCR1_ENST00000580534.1_5'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	59							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCGTGCTCGACCTTTCTC	0.627000			T	TFE3	alveolar soft part sarcoma								9	21					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34061318	34061318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:34061318G>A	ENST00000389232.4	+	62	8831	c.8761G>A	c.(8761-8763)Gat>Aat	p.D2921N	RYR3_ENST00000415757.3_Missense_Mutation_p.D2921N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2921					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGGTAGTGATTCTACTAC	0.438000													24	67					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537354	55537354	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55537354G>C	ENST00000220676.1	+	4	1060	c.912G>C	c.(910-912)aaG>aaC	p.K304N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	304					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTTAGAAAAGAATGATTCTC	0.318000													4	35					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65497670	65497670	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65497670C>T	ENST00000261883.4	-	5	725	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	187	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGCTGGCCTCACTGCACAGC	0.617000													33	97					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433416	66433416	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:66433416G>C	ENST00000383703.3	-	16	3015	c.2412C>G	c.(2410-2412)gtC>gtG	p.V804V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Silent_p.V827V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	827						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGTGTTGGTGACACTGTACT	0.557000													13	51					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	21201376	21201376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:21201376G>C	ENST00000274695.4	+	15	1586	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K382N|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K473N	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	473	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCATGGGGAAGATGGTTGAAG	0.393000													31	109					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452357	51452357	+	Missense_Mutation	SNP	C	C	T	rs117067639	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452357C>T	ENST00000336334.3	-	4	702	c.350G>A	c.(349-351)cGt>cAt	p.R117H	KLK5_ENST00000593428.1_Missense_Mutation_p.R117H|KLK5_ENST00000391809.2_Missense_Mutation_p.R117H	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	117	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGCCGAGACGGACTCTGAA	0.592000													29	102					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567842	229567842	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229567842G>T	ENST00000366684.3	-	5	809	c.707C>A	c.(706-708)tCc>tAc	p.S236Y	ACTA1_ENST00000366683.2_Missense_Mutation_p.S148Y	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	236					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TTCCAGGGAGGAGGAGGAGGC	0.642000													14	42					1.3612e-06	1.40509e-06	1	1	0
SIX2	10736	broad.mit.edu	37	2	45236023	45236023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:45236023G>C	ENST00000303077.6	-	1	546	c.227C>G	c.(226-228)tCg>tGg	p.S76W		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	76						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGGCGAGAACTGGTG	0.627000													30	112					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32508200	32508200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32508200G>C	ENST00000327300.7	+	9	1474	c.1307G>C	c.(1306-1308)aGa>aCa	p.R436T	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R397T|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	436					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAGCATACAGAGAGCACCCA	0.468000													15	33					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219649	134219649	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134219649G>A	ENST00000305233.5	+	2	1704	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	549	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTTTCTCTGAATTTTTCAA	0.488000													32	84					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100357997	100357997	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:100357997G>C	ENST00000294724.4	+	24	3571	c.3093G>C	c.(3091-3093)caG>caC	p.Q1031H	AGL_ENST00000361302.3_Missense_Mutation_p.Q1015H|AGL_ENST00000370161.2_Missense_Mutation_p.Q1015H|AGL_ENST00000361915.3_Missense_Mutation_p.Q1031H|AGL_ENST00000370165.3_Missense_Mutation_p.Q1031H|AGL_ENST00000361522.4_Missense_Mutation_p.Q1014H|AGL_ENST00000370163.3_Missense_Mutation_p.Q1031H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1031					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCTTTGTTCAGAATGGTTCAA	0.348000													9	47					0	0	1	0	0
CYB5D1	124637	broad.mit.edu	37	17	7762898	7762898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7762898C>G	ENST00000332439.4	+	4	807	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	CYB5D1_ENST00000571846.1_3'UTR|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000570446.1_Missense_Mutation_p.L91V|LSMD1_ENST00000576861.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	219							heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGCAATACTTCTGTACTTCAA	0.448000													30	80					0	0	1	0	0
RAB9B	51209	broad.mit.edu	37	X	103080330	103080330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:103080330C>T	ENST00000243298.2	-	3	669	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	129					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TGCCTATCCTCTTTGTCTACC	0.433000													94	87					0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31210457	31210457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:31210457G>C	ENST00000294507.3	-	6	674	c.600C>G	c.(598-600)atC>atG	p.I200M		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	200					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTGAAGATAAGGACAG	0.542000													26	57					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644076	82644076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:82644076G>A	ENST00000533655.1	+	6	1908	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	C11orf82_ENST00000329143.3_Missense_Mutation_p.E265K|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.E566K	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	566					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCACACAGGGAGAGTGACCA	0.338000													13	19					0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114655760	114655760	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:114655760T>C	ENST00000393486.1	+	5	1102	c.512T>C	c.(511-513)aTc>aCc	p.I171T	MDFIC_ENST00000257724.3_Missense_Mutation_p.I280T	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	171	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GTCCACTGTATCCTGGCTTGC	0.443000													92	317					0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35743045	35743045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:35743045G>C	ENST00000290310.3	+	2	408	c.268G>C	c.(268-270)Gag>Cag	p.E90Q		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2						blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						GTACATTGTAGAGGACTGGCA	0.483000													14	39					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:149807437G>A	ENST00000370396.2	+	7	520	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MTM1_ENST00000542741.1_Missense_Mutation_p.E61K|MTM1_ENST00000543350.1_Missense_Mutation_p.E41K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.E119K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	156					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348000													23	27					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52621527	52621527	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52621527C>G	ENST00000356770.4	-	18	2872		c.e18-1		PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Intron			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTTTCACCTCAAAAATGG	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								13	57					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319255	43319255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:43319255C>T	ENST00000321925.4	+	7	1023	c.791C>T	c.(790-792)tCa>tTa	p.S264L	SLC14A1_ENST00000402943.2_Missense_Mutation_p.S159L|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S320L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.S156L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S320L|SLC14A1_ENST00000535474.1_Missense_Mutation_p.S132L|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S264L	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	264						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCCATAGGATCATTGCTGGGC	0.537000													27	81					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45914250	45914250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45914250C>G	ENST00000379056.1	-	2	240	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	TPT1_ENST00000379060.4_Missense_Mutation_p.E46Q|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000530705.1_Missense_Mutation_p.E58Q|TPT1_ENST00000309246.5_Missense_Mutation_p.E58Q|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.E24Q			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	58					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CCTTCGCCCTCGGGGCCTTCA	0.448000													22	81					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619556	68619556	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:68619556G>T	ENST00000226413.4	-	1	522	c.498C>A	c.(496-498)ctC>ctA	p.L166L	GNRHR_ENST00000420975.2_Silent_p.L166L|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	166					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGACACTACTGAGGATCCAGG	0.463000													9	29					1.12685e-05	1.14989e-05	1	1	0
ZBED4	9889	broad.mit.edu	37	22	50277808	50277808	+	Silent	SNP	G	G	A	rs141158718		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50277808G>A	ENST00000216268.5	+	2	975	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCACACCCGACCGTGCTCA	0.557000													21	72					0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47356852	47356852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:47356852C>T	ENST00000378720.3	-	6	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ESD_ENST00000378697.1_Missense_Mutation_p.E82K|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	111						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAAGGATCTTCAGTGGCATCA	0.378000													18	75					0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161071873	161071873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161071873C>G	ENST00000368010.3	-	3	337	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	85					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGCACCTCTTTGACAGTT	0.517000													19	49					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050867	160050867	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050867G>A	ENST00000263635.6	+	17	3079	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	TANC1_ENST00000454300.1_Missense_Mutation_p.E842K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	948						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTGGCCACGAGGAAGTTGT	0.557000													23	75					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681650	67681650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:67681650G>C	ENST00000334583.6	+	12	1267	c.939G>C	c.(937-939)caG>caC	p.Q313H	RLTPR_ENST00000545661.1_Missense_Mutation_p.Q313H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	313										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTGGCCCAGACAGGGTTGA	0.657000													4	12					0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100612202	100612202	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:100612202G>A	ENST00000188312.2	+	9	1525	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ACTR6_ENST00000546902.1_Missense_Mutation_p.E172K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E254K|ACTR6_ENST00000551617.1_Missense_Mutation_p.E172K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	254						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GCCAAGGGAAGAGATGGTGTT	0.313000													7	55					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99037049	99037049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99037049C>T	ENST00000376586.2	+	7	898	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	FARP1_ENST00000319562.6_Nonsense_Mutation_p.Q188*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.Q188*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	188	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATACATACCTCAGCAAGACGC	0.418000													8	37					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798209	75798209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75798209C>T	ENST00000306726.2	-	7	1287	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	259						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGAAGGGATCTGGGTGGCCG	0.532000													18	54					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8997182	8997182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:8997182G>C	ENST00000344836.4	-	16	1980	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L	USP7_ENST00000535863.1_Missense_Mutation_p.F495L|USP7_ENST00000381886.4_Missense_Mutation_p.F578L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	594					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCAATACTTTGAACACAGTGT	0.473000													14	57					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086600	100086600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100086600G>A	ENST00000423930.1	+	4	1415	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	NYAP1_ENST00000300179.2_Missense_Mutation_p.R419Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R362Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	419	Pro-rich.																GGCCAGCCCCGGGGGGAGCGG	0.766000													6	31					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103607320	103607320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103607320C>A	ENST00000370033.4	-	26	2154	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	679						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTTCTTGGCTGAGT	0.592000													25	83					1.06801e-11	1.12016e-11	1	1	0
PDE9A	5152	broad.mit.edu	37	21	44192610	44192610	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:44192610G>C	ENST00000291539.6	+	19	1808	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T	PDE9A_ENST00000398234.3_Missense_Mutation_p.R482T|PDE9A_ENST00000335440.6_Missense_Mutation_p.R481T|PDE9A_ENST00000380328.2_Missense_Mutation_p.R530T|PDE9A_ENST00000398227.3_Missense_Mutation_p.R423T|PDE9A_ENST00000398236.3_Missense_Mutation_p.R497T|PDE9A_ENST00000398224.3_Missense_Mutation_p.R456T|PDE9A_ENST00000349112.3_Missense_Mutation_p.R455T|PDE9A_ENST00000335512.4_Missense_Mutation_p.R523T|PDE9A_ENST00000398229.3_Missense_Mutation_p.R449T|PDE9A_ENST00000398225.3_Missense_Mutation_p.R542T|PDE9A_ENST00000539837.1_Missense_Mutation_p.R455T|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.R516T|PDE9A_ENST00000328862.6_Missense_Mutation_p.R557T	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	583					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGAGAAGCAGAGATGTGAAA	0.498000													6	15					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911749	12911749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911749G>A	ENST00000301522.2	-	3	366	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	PRDX2_ENST00000334482.5_Nonsense_Mutation_p.Q80*|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Nonsense_Mutation_p.Q80*	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	80	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGGTGAACTGAGAGTCCACC	0.587000													5	24					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113304639	113304639	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:113304639G>A	ENST00000389385.4	+	7	935	c.438G>A	c.(436-438)caG>caA	p.Q146Q	RPH3A_ENST00000548866.1_Silent_p.Q97Q|RPH3A_ENST00000447659.2_Silent_p.Q97Q|RPH3A_ENST00000415485.3_Silent_p.Q146Q|RPH3A_ENST00000420983.2_Silent_p.Q146Q|RPH3A_ENST00000551052.1_Silent_p.Q142Q|RPH3A_ENST00000543106.2_Silent_p.Q146Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	146	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCATTGAGCAGAGGGAGGTGA	0.537000													9	17					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204520	9204520	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9204520C>G	ENST00000429566.3	+	1	666	c.600C>G	c.(598-600)ctC>ctG	p.L200L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCATCCTCATTGTGGCAG	0.567000													31	138					0	0	1	0	0
NDUFA7	4701	broad.mit.edu	37	19	8381530	8381530	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8381530C>A	ENST00000301457.2	-	3	139		c.e3-1		NDUFA7_ENST00000598884.1_Splice_Site	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	AGGCTGAGTTCTGAGGGGAAA	0.562000													24	92					7.33532e-06	7.51693e-06	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904353	129904353	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:129904353G>A	ENST00000368654.3	-	13	6126	c.5751C>T	c.(5749-5751)atC>atT	p.I1917I	MKI67_ENST00000368653.3_Silent_p.I1557I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1917	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAAATGTGTTGATGTCTTTCT	0.478000													64	200					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575013	120575013	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:120575013C>T	ENST00000300648.6	-	50	6786	c.6774G>A	c.(6772-6774)aaG>aaA	p.K2258K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2258					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTACCTTCTTCGGGAGGC	0.607000													32	104					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23524350G>A	ENST00000397359.3	-	3	673	c.414C>T	c.(412-414)atC>atT	p.I138I	CDH24_ENST00000267383.5_Silent_p.I138I|CDH24_ENST00000554034.1_Silent_p.I138I|CDH24_ENST00000487137.2_Silent_p.I138I	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	138	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	136					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646567	57646567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57646567G>A	ENST00000269834.1	-	5	1523	c.1138C>T	c.(1138-1140)Caa>Taa	p.Q380*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGTTT	0.373000													27	97					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92752143	92752143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92752143G>A	ENST00000370360.3	-	7	720	c.639C>T	c.(637-639)ttC>ttT	p.F213F	GLMN_ENST00000534881.1_Silent_p.F213F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	213					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCAAGCTTTTGAAACAACTAA	0.318000									Multiple Glomus Tumors (of the Skin), Familial				14	40					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54424120	54424120	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:54424120G>A	ENST00000306888.2	-	1	264	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	101						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCAGCAACAGAAGCGCCTTC	0.537000													13	45					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31360134	31360134	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31360134G>A	ENST00000542188.1	-	4	805	c.492C>T	c.(490-492)atC>atT	p.I164I	TRPM1_ENST00000256552.6_Silent_p.I147I|TRPM1_ENST00000397795.2_Silent_p.I125I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	125					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAGCAGCCTTGATCAGGCCTT	0.547000													38	131					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48309060	48309060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:48309060G>C	ENST00000297423.4	+	6	1034	c.650G>C	c.(649-651)aGa>aCa	p.R217T	SPIDR_ENST00000518074.1_Missense_Mutation_p.R157T|SPIDR_ENST00000541342.1_Missense_Mutation_p.R147T|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		TCGGATGCAAGACAGATTATG	0.408000													33	87					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17328531	17328531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:17328531C>T	ENST00000452699.1	-	8	877	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.E235K|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E230K	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	235					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGCCCTACCTCGTCCACCAGC	0.627000													11	24					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087241	49087241	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49087241C>G	ENST00000261900.3	-	9	1978	c.1756G>C	c.(1756-1758)Gat>Cat	p.D586H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	586	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTGGATGATCAAACACAGCC	0.453000													21	61					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52416714	52416714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:52416714C>T	ENST00000261837.7	-	12	1197	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	GNB5_ENST00000396335.4_Missense_Mutation_p.D266N|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D336N	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	378						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCAGTCCCATCGGGGGAAACT	0.498000													18	65					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180322650	180322650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:180322650G>A	ENST00000412756.2	+	6	781	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TTC14_ENST00000296015.4_Missense_Mutation_p.E238K|TTC14_ENST00000382584.4_Missense_Mutation_p.E238K	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	238							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGAAGTGTTGAGCTAAATAG	0.303000													4	26					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31849763	31849763	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31849763C>A	ENST00000543095.2	-	11	1802	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.D534Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D534Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D540Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D247Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	534							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)		CACAGCAAATCCTCTGCTAAT	0.358000													6	17					2.0095e-06	2.07176e-06	1	1	0
GTF3C4	9329	broad.mit.edu	37	9	135553634	135553634	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135553634G>C	ENST00000372146.4	+	2	1192	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	210					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGACCTGACTGAGATCTATGG	0.507000													19	66					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33138099	33138099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:33138099G>A	ENST00000373493.5	+	9	1174	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	RBBP4_ENST00000373485.1_Missense_Mutation_p.D339N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D304N|RBBP4_ENST00000414241.3_Missense_Mutation_p.D338N|RBBP4_ENST00000544435.1_Missense_Mutation_p.D87N	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	339					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CAGTGGTACTGATCGCAGACT	0.358000													16	22					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49406883	49406883	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49406883G>C	ENST00000548065.1	-	2	476	c.20C>G	c.(19-21)tCa>tGa	p.S7*	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_5'UTR|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_5'UTR|PRKAG1_ENST00000395170.3_5'UTR|PRKAG1_ENST00000316299.5_Nonsense_Mutation_p.S7*|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	7					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GGAGCTATCTGAAGAAATGAC	0.423000													10	48					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211513244	211513244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211513244G>C	ENST00000233072.5	+	27	3580	c.3384G>C	c.(3382-3384)ttG>ttC	p.L1128F	CPS1_ENST00000430249.2_Missense_Mutation_p.L1134F|CPS1_ENST00000451903.2_Missense_Mutation_p.L677F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1128	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTGCTTGTTGAGGCCTTCCT	0.333000													21	79					0	0	1	0	0
SETD8	387893	broad.mit.edu	37	12	123889520	123889520	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123889520C>T	ENST00000402868.3	+	7	1173	c.747C>T	c.(745-747)ctC>ctT	p.L249L	SETD8_ENST00000330479.4_Silent_p.L249L			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	290					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACGGGGACCTCATCGAGATCA	0.537000													17	65					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:175898316C>T	ENST00000359240.3	+	5	2310	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ADAM29_ENST00000514159.1_Missense_Mutation_p.S547L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S547L|ADAM29_ENST00000445694.1_Missense_Mutation_p.S547L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	547	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAG	0.388000													32	109					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202544	39202544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:39202544C>G	ENST00000351578.6	-	2	709	c.519G>C	c.(517-519)ttG>ttC	p.L173F	FYB_ENST00000512982.1_Missense_Mutation_p.L173F|FYB_ENST00000540520.1_Missense_Mutation_p.L183F|FYB_ENST00000515010.1_Missense_Mutation_p.L173F|FYB_ENST00000505428.1_Missense_Mutation_p.L173F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	173					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACCCCAGTCAATTTGGGAA	0.498000													28	101					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12245000	12245000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:12245000C>T	ENST00000256194.4	+	12	1780	c.1492C>T	c.(1492-1494)Ctc>Ttc	p.L498F	MICAL2_ENST00000537344.1_Missense_Mutation_p.L498F|MICAL2_ENST00000527546.1_Missense_Mutation_p.L498F|MICAL2_ENST00000342902.5_Missense_Mutation_p.L498F|MICAL2_ENST00000379612.3_Missense_Mutation_p.L498F	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	498						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCACTACCCTCTCGAGAGACT	0.562000													28	121					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059091	13059091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:13059091C>G	ENST00000506447.1	+	21	4348	c.4268C>G	c.(4267-4269)tCa>tGa	p.S1423*	CEP192_ENST00000325971.8_Nonsense_Mutation_p.S827*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S948*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1018										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGATCTTTCAACATATCGT	0.358000													21	58					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729964	106729964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106729964C>G	ENST00000299045.3	+	8	1289	c.1115C>G	c.(1114-1116)gCt>gGt	p.A372G		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	372										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGGATTTCAGCTGTTCTACTT	0.433000													14	46					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987774	182987774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182987774C>T	ENST00000326505.3	+	2	718	c.188C>T	c.(187-189)tCt>tTt	p.S63F	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.S63F|B3GNT5_ENST00000460419.1_Missense_Mutation_p.S63F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	63					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.S63C(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATACCCTGTCTCTTAAGCAC	0.393000													24	83					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351774	44351774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44351774C>T	ENST00000324461.7	+	7	1318	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H202Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGATAATTCATACAGGTGA	0.393000													19	49					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129320	84129320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84129320G>C	ENST00000343411.3	-	4	1007	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	171					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCAGAAGCCAGAGCCCAGGGA	0.617000													32	128					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516451	138516451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:138516451C>T	ENST00000371763.1	-	5	576	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	108					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GAAGATCACTCGGTAGCCTGT	0.493000													21	63					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889330	23889330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:23889330C>T	ENST00000532292.1	-	1	1845	c.1751G>A	c.(1750-1752)cGa>cAa	p.R584Q		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGAATGCTCGAGGGCCCCA	0.512000													23	51					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161052112	161052112	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:161052112G>A	ENST00000283249.2	-	4	598	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.L79L|ITGB6_ENST00000409872.1_Silent_p.L121L|ITGB6_ENST00000409967.2_Silent_p.L121L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	121					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGCACCTGCAGAGTCTGCGCA	0.522000													16	63					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897001	36897001	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897001C>A	ENST00000301807.6	-	12	4327	c.2430G>T	c.(2428-2430)caG>caT	p.Q810H	TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1360H|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q810H			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1360					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AATAACCTTTCTGGGACCTGA	0.473000													51	131					1.39193e-11	1.45899e-11	1	1	0
C16orf90	646174	broad.mit.edu	37	16	3543964	3543964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3543964C>G	ENST00000437192.3	-	3	426	c.424G>C	c.(424-426)Gac>Cac	p.D142H	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	132										large_intestine(1)	1						GCACCCTTGTCTGGGTCCATG	0.632000													11	17					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092471	202092471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:202092471C>G	ENST00000367282.5	+	1	486	c.380C>G	c.(379-381)tCc>tGc	p.S127C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						ACCGAGAGCTCCTACAGTGCC	0.597000													22	67					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227898175	227898175	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:227898175C>G	ENST00000396625.3	-	38	3735	c.3528G>C	c.(3526-3528)ctG>ctC	p.L1176L	COL4A4_ENST00000329662.7_Silent_p.L1176L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1176	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAAGCCGTTCAGGCCAGGTG	0.522000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	48					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742592	102742592	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102742592C>G	ENST00000532855.1	-	0	537							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGCTGAATTTCAAGGGGGTAA	0.418000													9	19					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62859375	62859375	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62859375C>T	ENST00000360149.4	+	16	1981	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	0					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGAGATTTTCGTGTGTTTTA	0.438000													6	20					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962944	48962944	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:48962944G>C	ENST00000549817.1	-	2	258	c.213C>G	c.(211-213)ctC>ctG	p.L71L	LALBA_ENST00000301046.2_Silent_p.L71L			P00709	LALBA_HUMAN	lactalbumin, alpha-	71					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGATCTGGAAGAGTCCATATT	0.453000													18	65					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42845282	42845282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:42845282C>T	ENST00000398585.3	-	9	1040	c.980G>A	c.(979-981)tGg>tAg	p.W327*	TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.W290*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.W290*	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	290	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGTCACGATCCACTCGGGGGT	0.706000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								10	24					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16184358	16184358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:16184358C>T	ENST00000399408.2	+	19	2732	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Q797*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Q794*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Q853*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Q738*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.Q853*			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	853	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCTCCTACCAGGAGCTGCT	0.607000													8	37					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202139648	202139648	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202139648C>G	ENST00000358485.4	+	6	1005	c.809C>G	c.(808-810)tCt>tGt	p.S270C	CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.S228C|CASP8_ENST00000432109.2_Missense_Mutation_p.S211C|CASP8_ENST00000323492.7_Missense_Mutation_p.S196C	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	211					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCTCGGACTCTCCAAGAGAA	0.388000										HNSCC(4;0.00038)			11	27					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32678953	32678953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32678953C>G	ENST00000421745.2	+	23	4830	c.4696C>G	c.(4696-4698)Ctg>Gtg	p.L1566V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTTGAACCTCTGCACTTTAC	0.383000													24	59					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917627	11917627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11917627C>T	ENST00000323169.5	+	3	1190	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCATTTCAAAGGCATGA	0.423000													8	44					0	0	1	0	0
CCDC140	151278	broad.mit.edu	37	2	223169063	223169063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:223169063G>A	ENST00000295226.1	+	2	826	c.442G>A	c.(442-444)Gag>Aag	p.E148K		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	148										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aaagaagaaagagagaaagag	0.478000													5	26					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220032963	220032963	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220032963G>C	ENST00000455516.2	-	6	823	c.776C>G	c.(775-777)tCa>tGa	p.S259*	SLC23A3_ENST00000396775.3_Missense_Mutation_p.F132L|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q241E|SLC23A3_ENST00000409878.3_Nonsense_Mutation_p.S251*	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	251					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGTTGAAGCTCGCCT	0.577000													11	32					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107524303	107524303	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:107524303G>A	ENST00000416476.2	+	17	2036	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	BBX_ENST00000325805.8_Silent_p.*942*|BBX_ENST00000402543.1_Silent_p.*892*|BBX_ENST00000406780.1_Silent_p.*912*|BBX_ENST00000415149.2_Silent_p.*912*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCTGACCAGTGAAGCGCCCTT	0.468000													21	88					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34261595	34261595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34261595G>C	ENST00000374092.4	-	11	1218	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	NFS1_ENST00000541387.1_Missense_Mutation_p.S332C|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.L43V|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.S323C|NFS1_ENST00000397425.1_Missense_Mutation_p.S323C|NFS1_ENST00000540053.1_Missense_Mutation_p.S181C	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	383					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGGGATGCAGAGGTGCAGGC	0.493000													17	57					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41707611	41707611	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:41707611G>C	ENST00000373025.3	-	7	903	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	281					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAGTGAGCAGAGAGGTGCCT	0.612000													35	87					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004286	57004286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57004286C>T	ENST00000606794.1	-	1	389	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	65						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGAAGATATCAGCTGAGCGC	0.612000													20	59					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60584692	60584692	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:60584692C>A	ENST00000400324.4	-	8	1103	c.883G>T	c.(883-885)Gta>Tta	p.V295L	DIAPH3_ENST00000400320.1_Missense_Mutation_p.V249L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V284L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V295L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V295L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V225L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	295	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACAATGCATACCGCAGAGAGA	0.368000													4	16					0.150653	0.151009	1	1	0
TBX10	347853	broad.mit.edu	37	11	67402490	67402490	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67402490C>T	ENST00000335385.3	-	2	339	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	84					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGACGATCATCTCAGTGCCCA	0.647000													26	45					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31648699	31648699	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:31648699G>A	ENST00000395934.2	+	6	703	c.696G>A	c.(694-696)caG>caA	p.Q232Q	ELP4_ENST00000379163.5_Silent_p.Q233Q|ELP4_ENST00000350638.5_Silent_p.Q232Q			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	232					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGTTTATCCAGAACATCATTT	0.318000													14	44					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158723187	158723187	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:158723187C>T	ENST00000407559.3	+	21	2685	c.2527C>T	c.(2527-2529)Ctg>Ttg	p.L843L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	843										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGTGCTCTGATCCAGTT	0.408000													4	16					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247731	156247731	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156247731G>A	ENST00000361813.5	-	3	426	c.282C>T	c.(280-282)atC>atT	p.I94I	SMG5_ENST00000368267.5_Silent_p.I94I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	94					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGTTAGTCTTGATAAGCTGGA	0.478000													65	223					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683622	136683622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:136683622C>G	ENST00000354570.3	-	11	1902	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	MAP7_ENST00000454590.1_Missense_Mutation_p.E520Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E483Q|MAP7_ENST00000432797.2_Missense_Mutation_p.E352Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E483Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	498					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCCTTTCTTCCTTTTCT	0.527000													47	150					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484647	36484647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36484647C>G	ENST00000342292.4	-	11	4825	c.4805G>C	c.(4804-4806)aGa>aCa	p.R1602T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1602						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCATTCCTCTCTTGTTCTTTC	0.498000													54	191					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3550998	3550998	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3550998C>G	ENST00000355415.2	-	2	662	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.E165Q|MFSD12_ENST00000389395.3_Missense_Mutation_p.E165Q	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	165					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCGTGAGCTCCACCTTCTCA	0.642000													17	28					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857645	50857645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50857645C>G	ENST00000395562.2	+	11	1697	c.1228C>G	c.(1228-1230)Caa>Gaa	p.Q410E	CHAT_ENST00000395559.2_Missense_Mutation_p.Q374E|CHAT_ENST00000337653.2_Missense_Mutation_p.Q492E|CHAT_ENST00000351556.3_Missense_Mutation_p.Q374E|CHAT_ENST00000339797.1_Missense_Mutation_p.Q374E|CHAT_ENST00000455728.2_Missense_Mutation_p.Q374E	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	492					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCGGAAATTCAAGGCCACTT	0.617000													22	98					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110531931	110531931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:110531931G>A	ENST00000368932.1	+	7	753	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CDC40_ENST00000368930.1_Missense_Mutation_p.E218K|CDC40_ENST00000307731.1_Missense_Mutation_p.E218K			O60508	PRP17_HUMAN	cell division cycle 40	218					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGAATTGGATGAAATCACAGC	0.318000													8	10					0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424331	24424331	+	Silent	SNP	G	G	A	rs142533242		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24424331G>A	ENST00000313250.5	+	2	419	c.216G>A	c.(214-216)gcG>gcA	p.A72A	DHRS4_ENST00000558263.1_Silent_p.A72A|DHRS4_ENST00000559632.1_Silent_p.A72A|DHRS4_ENST00000382761.3_Silent_p.A54A|DHRS4_ENST00000308178.8_Silent_p.A54A|DHRS4_ENST00000397074.3_Silent_p.A72A|DHRS4_ENST00000397075.3_Silent_p.A72A|DHRS4_ENST00000397073.2_Silent_p.A54A|DHRS4_ENST00000421831.1_Silent_p.A54A|DHRS4_ENST00000558581.1_Silent_p.A72A|DHRS4_ENST00000543741.2_Silent_p.A72A	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	72						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGGACCAGGCGGTGGCCACGC	0.692000													36	112					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30723959	30723959	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:30723959C>T	ENST00000504298.1	+	0	5					NR_027655.1																						TTTCAGGGTTCTGTGGAAAAT	0.428000													10	49					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	541369	541369	+	Silent	SNP	G	G	A	rs143039634		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:541369G>A	ENST00000215574.4	+	5	746	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	176					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACGCGGAGCGTGACG	0.716000													5	18					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146406	124146406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124146406G>C	ENST00000287380.1	+	17	2549	c.2459G>C	c.(2458-2460)aGa>aCa	p.R820T	TBC1D31_ENST00000518805.1_Missense_Mutation_p.R374T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R820T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R715T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R697T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CTAGAAATGAGACAGCTGGAA	0.378000													27	69					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530516	5530516	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5530516G>A	ENST00000311659.4	-	2	420	c.273C>T	c.(271-273)atC>atT	p.I91I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	91	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCTCTTGATGACCAGGT	0.567000													21	75					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4891776	4891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4891776G>A	ENST00000396829.2	-	9	1201	c.635C>T	c.(634-636)tCg>tTg	p.S212L	INCA1_ENST00000574617.1_Missense_Mutation_p.S212L|INCA1_ENST00000575780.1_Missense_Mutation_p.S197L|INCA1_ENST00000576820.1_Missense_Mutation_p.S212L|INCA1_ENST00000355025.3_Missense_Mutation_p.S197L	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	212						nucleus				upper_aerodigestive_tract(1)	1						AGTGCTGAACGAGGCCAGAGA	0.567000													26	74					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5772507	5772507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5772507C>G	ENST00000328090.5	+	11	1170	c.545C>G	c.(544-546)tCt>tGt	p.S182C	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	182																	CCTATTTTATCTACCCTTAAT	0.333000													15	43					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7964486	7964486	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:7964486C>G	ENST00000246024.2	-	7	849	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TAGAAACATTCTGATATTACC	0.388000													12	43					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18232688	18232688	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:18232688G>C	ENST00000316694.3	-	11	1320	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	SHMT1_ENST00000354098.3_Missense_Mutation_p.L357V|SHMT1_ENST00000352886.6_Missense_Mutation_p.L316V|SHMT1_ENST00000539052.1_Missense_Mutation_p.L258V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	396					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.L396V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGGCCGCAGAGCGCTTCTG	0.512000													11	37					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129916530	129916530	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:129916530C>T	ENST00000222481.4	+	7	703	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	216					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGATATCTTCCTCCTGCCAG	0.453000													24	89					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289057	38289057	+	RNA	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:38289057C>A	ENST00000436911.2	-	0	116																											TTAATAATATCTGGGAAAAAT	0.403000													45	151					4.16155e-14	4.38642e-14	1	1	0
GAS2L1	10634	broad.mit.edu	37	22	29707904	29707904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:29707904C>T	ENST00000471961.1	+	5	2511	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000407647.2_Missense_Mutation_p.S488F|GAS2L1_ENST00000407854.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	620					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TTTCCCGGGTCTCCAGCCCCA	0.716000													19	50					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357157	37357157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:37357157C>G	ENST00000217420.1	+	2	1716	c.1453C>G	c.(1453-1455)Ctg>Gtg	p.L485V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	485					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGCGCAAGCTGCTGTGGCA	0.652000													16	42					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45781258	45781258	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:45781258G>A	ENST00000300843.4	+	9	1161	c.864G>A	c.(862-864)cgG>cgA	p.R288R	MARK4_ENST00000262891.4_Silent_p.R288R	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	288	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCATCCTGCGGAGATTTTTGG	0.572000													45	102					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31013635C>T	ENST00000409904.3	+	4	699	c.441C>T	c.(439-441)ttC>ttT	p.F147F	GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Silent_p.F211F|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	211					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTCCCATTTCGCCACCATGA	0.627000													40	85					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509931	117509931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117509931G>C	ENST00000393203.2	+	6	2185	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	680						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAATCCTATTGAGATAGACTT	0.522000													21	69					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7733673	7733673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7733673C>T	ENST00000572933.1	+	78	13369	c.11909C>T	c.(11908-11910)tCc>tTc	p.S3970F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S3970F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3970	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACAGTTTTCCCGCTGCTCC	0.463000													21	97					0	0	1	0	0
BUD31	8896	broad.mit.edu	37	7	99013816	99013816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99013816C>G	ENST00000403633.2	+	4	679	c.150C>G	c.(148-150)ttC>ttG	p.F50L	BUD31_ENST00000456893.1_Intron|BUD31_ENST00000222969.5_Missense_Mutation_p.F50L|BUD31_ENST00000431419.1_Missense_Mutation_p.F21L			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	50					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCATCTTCAGGATCCACC	0.493000													30	79					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	860896	860896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:860896G>A	ENST00000316157.3	-	15	1850	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	604							nucleotide binding|RNA binding	p.H604Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCGGGTAAATGAGCTGGGGAG	0.532000													20	66					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89790200	89790200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:89790200G>C	ENST00000297205.2	+	3	366	c.166G>C	c.(166-168)Gac>Cac	p.D56H	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	56					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TGATGAATTTGACTGCCCTTC	0.423000													40	155					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164712184	164712184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164712184G>A	ENST00000264382.3	-	41	4764	c.4702C>T	c.(4702-4704)Ccc>Tcc	p.P1568S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1568	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGAAGCGGGATCTTGTCTC	0.299000										HNSCC(35;0.089)			21	54					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088812	42088812	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088812G>C	ENST00000244020.3	+	4	627	c.521G>C	c.(520-522)aGa>aCa	p.R174T		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	174	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ATAAATGGCAGAAATATTAGG	0.453000													13	44					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131258398	131258398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131258398C>G	ENST00000434106.3	+	18	2353	c.1990C>G	c.(1990-1992)Ctg>Gtg	p.L664V	ODF2_ENST00000351030.3_Missense_Mutation_p.L659V|ODF2_ENST00000393527.3_Missense_Mutation_p.L640V|ODF2_ENST00000604420.1_Missense_Mutation_p.L664V|ODF2_ENST00000444119.2_Missense_Mutation_p.L640V|ODF2_ENST00000372807.5_Missense_Mutation_p.L659V	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACAGCTGAGTCTGAAGGTGGA	0.483000													23	82					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78061848	78061848	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78061848G>A	ENST00000397545.4	+	16	2685	c.2658G>A	c.(2656-2658)ctG>ctA	p.L886L	CCDC40_ENST00000374877.3_Silent_p.L886L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	886					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGACAAGCTGAACCAGCTCA	0.617000													18	57					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71852031	71852031	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71852031G>C	ENST00000377245.4	+	14	2366	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	TJP2_ENST00000453658.2_Missense_Mutation_p.E697Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E724Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E720Q|TJP2_ENST00000348208.4_Missense_Mutation_p.E720Q|TJP2_ENST00000539225.1_Missense_Mutation_p.E751Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	720	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCCAGCTTATGAGAGGGTTTT	0.517000													24	112					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15662126	15662126	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:15662126C>T	ENST00000269703.3	+	14	1639	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	CYP4F22_ENST00000601005.2_Silent_p.F480F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GACAGAGCTTCGCCATGGCCG	0.617000													8	21					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10027568C>T	ENST00000506583.1	-	3	240	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATCTTCTCCTCGGTCCTTTTT	0.388000													5	57					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539034	56539034	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:56539034G>T	ENST00000390649.3	+	7	1435	c.1435G>T	c.(1435-1437)Gtg>Ttg	p.V479L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	479	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCATCTGCGTGGCCCTGCA	0.617000													16	53					1.99824e-07	2.07021e-07	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118535110	118535110	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:118535110C>G	ENST00000336338.5	-	36	5405	c.5340G>C	c.(5338-5340)ctG>ctC	p.L1780L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1780						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTGCAGCCTCAGTTTCACCT	0.463000													24	69					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343399	12343399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12343399G>A	ENST00000358136.3	+	21	5370	c.5240G>A	c.(5239-5241)cGg>cAg	p.R1747Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R1747Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1747					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)		TCTGCGTCCCGGAAAAAGCAA	0.478000													14	44					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49952459	49952459	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49952459G>C	ENST00000550165.1	-	16	1622	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	MCRS1_ENST00000546244.1_Missense_Mutation_p.I261M|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.I452M|MCRS1_ENST00000357123.4_Missense_Mutation_p.I465M			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	452					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCTCAGCCCTGATGAGGGCAA	0.607000													18	71					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319557	31319557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:31319557C>T	ENST00000269197.5	+	11	2189	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	730	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAACTTCTTCAGTGTCTTCC	0.398000													55	207					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146338	156146338	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146338G>A	ENST00000368285.3	+	15	2103	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	SEMA4A_ENST00000368284.1_Silent_p.L480L|SEMA4A_ENST00000355014.2_Silent_p.L612L|SEMA4A_ENST00000368286.2_Silent_p.L480L|SEMA4A_ENST00000368282.1_Silent_p.L612L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	612	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCCTCTTGCTGATAGTGCAGG	0.557000													30	76					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538471	55538471	+	Nonsense_Mutation	SNP	C	C	T	rs104894082		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:55538471C>T	ENST00000220676.1	+	4	2177	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	677					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAAAATCTCGACAGCAAGC	0.323000													9	25					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85769496	85769496	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85769496G>T	ENST00000306434.3	+	6	891	c.768G>T	c.(766-768)caG>caT	p.Q256H	MAT2A_ENST00000409017.1_Splice_Site_p.Q193H	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	256					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGGGCCTCAGGTAATGTCAT	0.383000													5	29					0.014758	0.0148631	1	1	0
SLC22A18	5002	broad.mit.edu	37	11	2929501	2929501	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2929501C>T	ENST00000380574.1	+	3	614	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SLC22A18_ENST00000312221.5_Silent_p.F61F|SLC22A18_ENST00000347936.2_Silent_p.F61F|SLC22A18_ENST00000449793.2_Silent_p.F61F			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	61					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCATTGCCTTCGGCTACCTGC	0.617000													25	48					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150840663	150840663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840663G>C	ENST00000474524.1	+	3	336	c.298G>C	c.(298-300)Gat>Cat	p.D100H	MED12L_ENST00000273432.4_Missense_Mutation_p.D100H|MED12L_ENST00000309237.4_Missense_Mutation_p.D100H|MED12L_ENST00000422248.2_Missense_Mutation_p.D100H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATGCTAAAGATAATTATTG	0.388000													4	19					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:163360985G>A	ENST00000332142.5	-	6	1195	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R359*|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	366					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGTGTGTTCGATCTTTAACC	0.373000													17	63					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384215	21384215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:21384215C>T	ENST00000382932.2	-	3	1475	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	SLC7A4_ENST00000403586.1_Missense_Mutation_p.D470N	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	470					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTACCCATCCAAGAAGCCC	0.612000													16	48					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220969	140220969	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140220969C>G	ENST00000531613.1	+	1	63	c.63C>G	c.(61-63)ctC>ctG	p.L21L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L21L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGA	0.567000													50	117					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005550	25005550	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25005550G>A	ENST00000382114.4	-	8	1346	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	387						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGGACAGGATGAGATGCGATT	0.493000													42	123					0	0	1	0	0
CRABP1	1381	broad.mit.edu	37	15	78635840	78635840	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:78635840G>A	ENST00000299529.6	+	3	354		c.e3-1			NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1						multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	CCCGCCTGCAGAGTTTAGCCA	0.493000													8	46					0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60750112	60750112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60750112G>A	ENST00000395076.4	+	2	1121	c.691G>A	c.(691-693)Gat>Aat	p.D231N	PPM1A_ENST00000529574.1_Missense_Mutation_p.D231N|PPM1A_ENST00000325642.3_Missense_Mutation_p.D304N|PPM1A_ENST00000325658.3_Missense_Mutation_p.D231N	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	231					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGAAGAAGATGATCAGTTCAT	0.413000													43	96					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124515	12124515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:12124515C>G	ENST00000379388.2	+	4	4819	c.4487C>G	c.(4486-4488)tCa>tGa	p.S1496*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1496					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGAAACATCAAACTCCAGC	0.448000													21	71					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:46979555C>T	ENST00000264318.3	-	4	1348	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	122					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGTTACCATCATATTGTTCA	0.363000													16	43					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52258060	52258060	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:52258060C>G	ENST00000354831.7	-	27	3205	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	NRD1_ENST00000539524.1_Missense_Mutation_p.E874Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E938Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	937					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAAGCAGCTCCATAAGCGTA	0.488000													12	63					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36120478	36120478	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:36120478C>T	ENST00000262633.4	+	2	290	c.185C>T	c.(184-186)gCg>gTg	p.A62V	RBM42_ENST00000586618.1_Missense_Mutation_p.A62V|RBM42_ENST00000589559.1_Missense_Mutation_p.A62V|RBM42_ENST00000360475.4_Missense_Mutation_p.A62V|RBM42_ENST00000592202.1_Missense_Mutation_p.A62V|RBM42_ENST00000588161.1_Missense_Mutation_p.A62V|RBM42_ENST00000589871.1_Missense_Mutation_p.A62V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTGCCTGCGGTGCCCACT	0.587000													39	125					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600022	81600022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:81600022C>G	ENST00000356860.3	-	27	2511	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D737H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	737						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCCCACCATCAGTCACAACA	0.353000													12	73					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691686	46691686	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46691686C>G	ENST00000239144.4	-	1	615	c.381G>C	c.(379-381)caG>caC	p.Q127H	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.Q127H	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCGACGGGCTCTGCTCGGAGC	0.706000													7	27					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71155605C>T	ENST00000377311.3	-	1	178	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_153237.1	NP_694969.1			transmembrane protein 252																		GCAAATAGGCCGCAATCAGGC	0.532000													4	46					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700820	7700820	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7700820C>T	ENST00000572933.1	+	52	9512	c.8052C>T	c.(8050-8052)ctC>ctT	p.L2684L	DNAH2_ENST00000389173.2_Silent_p.L2684L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2684					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCATCATCTCTGTCCCAGCA	0.532000													47	183					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411132	109411132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:109411132C>G	ENST00000295124.4	+	5	591	c.531C>G	c.(529-531)atC>atG	p.I177M	CCDC138_ENST00000412964.2_Missense_Mutation_p.I177M	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	177										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CACATCAGATCAGTCAGATAT	0.373000													12	47					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6426469	6426469	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:6426469C>T	ENST00000321510.6	-	7	1112	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	348					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GTAAGACCTTCAGTAGCGTGG	0.602000													25	78					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15157071	15157071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15157071G>C	ENST00000198767.6	-	17	1859	c.1776C>G	c.(1774-1776)ttC>ttG	p.F592L	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.F562L|RRN3_ENST00000327307.7_Missense_Mutation_p.F559L|RRN3_ENST00000563559.1_Missense_Mutation_p.F592L|RRN3_ENST00000540462.1_Missense_Mutation_p.F410L	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	592	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TGGGTTTCTTGAACTCCTGTA	0.418000													33	115					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65464309	65464309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:65464309C>T	ENST00000330909.8	-	4	714	c.715G>A	c.(715-717)Gag>Aag	p.E239K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E239K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E239K|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.E239K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	239	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCTCCTCCTCATTCTCCGCG	0.517000													26	109					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160323984	160323984	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:160323984C>T	ENST00000368063.1	+	12	1476	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	NCSTN_ENST00000535857.1_Missense_Mutation_p.S281F|NCSTN_ENST00000294785.5_Missense_Mutation_p.S419F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S399F|NCSTN_ENST00000368065.4_Missense_Mutation_p.S161F			Q92542	NICA_HUMAN	nicastrin	419					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAATCAGTCCCAGCCTCTC	0.552000													26	95					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199034	196199034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:196199034C>T	ENST00000318037.3	-	6	1966	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	458					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGCTCTTTATCCACCTCCTTC	0.438000													47	118					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397426	5397426	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:5397426C>G	ENST00000341928.2	-	18	2813		c.e18-1		EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTCCATTTTCTGCATGGGAA	0.517000													24	87					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93527668	93527668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:93527668G>C	ENST00000394196.4	+	25	4243	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E1059Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1059	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAGGAGGAAGAGCGGCAGAA	0.408000													4	26					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202430471	202430471	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:202430471G>C	ENST00000439140.1	-	9	1002	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.Q320E	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	320										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGTTGTTGCTGAAGTTTTTCA	0.358000													4	12					0	0	1	0	0
IER3IP1	51124	broad.mit.edu	37	18	44682582	44682582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44682582G>C	ENST00000256433.3	-	3	311	c.215C>G	c.(214-216)tCa>tGa	p.S72*	IER3IP1_ENST00000588705.1_Nonsense_Mutation_p.S72*	NM_016097.4	NP_057181.1	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein 1	72						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane				large_intestine(1)	1						AATTGCAATTGAGTTTACTAT	0.303000													7	30					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797160	42797160	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42797160G>A	ENST00000572681.2	+	16	6311	c.6243G>A	c.(6241-6243)ccG>ccA	p.P2081P	CIC_ENST00000160740.3_Silent_p.P1172P|CIC_ENST00000575354.2_Silent_p.P1174P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGCCCAGCCCGAAGGCCCCCC	0.652000			"""Mis, F, S"""		oligodendroglioma								14	59					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2113469	2113469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2113469G>T	ENST00000280665.6	-	1	208	c.129C>A	c.(127-129)ttC>ttA	p.F43L	DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	43					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CCCGATGGCCGAAGGTGTACA	0.682000													11	43					4.68919e-08	4.87595e-08	1	1	0
CR2	1380	broad.mit.edu	37	1	207651346	207651346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651346G>T	ENST00000367057.3	+	16	3208	c.3019G>T	c.(3019-3021)Gaa>Taa	p.E1007*	CR2_ENST00000367059.3_Nonsense_Mutation_p.E886*|CR2_ENST00000458541.2_Nonsense_Mutation_p.E921*|CR2_ENST00000367058.3_Nonsense_Mutation_p.E948*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	948					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATATGCTGGAAGGCAGTCC	0.522000													11	39					9.70103e-10	1.01433e-09	1	1	0
MAF	4094	broad.mit.edu	37	16	79633490	79633490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:79633490C>T	ENST00000393350.1	-	1	1121	c.310G>A	c.(310-312)Gag>Aag	p.E104K	MAF_ENST00000326043.4_Missense_Mutation_p.E104K|MAF_ENST00000569649.1_Missense_Mutation_p.E104K	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	104					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCAGCGCCTCGGGGTTCAGC	0.706000			T	IGH@	MM								4	20					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121002980	121002980	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121002980G>C	ENST00000325954.4	+	11	2232	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	RNF10_ENST00000413266.2_Missense_Mutation_p.E596Q	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	591					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAAACCCTAGAGATGTTCTC	0.498000													31	84					0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4276349	4276349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:4276349C>T	ENST00000343470.4	-	7	817	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	LYAR_ENST00000452476.1_Missense_Mutation_p.E193K	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	193	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tgccgttcttcctttctttct	0.428000													25	88					0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	220022967	220022967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220022967C>T	ENST00000356853.5	-	2	251	c.118G>A	c.(118-120)Gat>Aat	p.D40N	NHEJ1_ENST00000409720.1_Missense_Mutation_p.D40N	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	40					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGTTGAAGATCTGAAACCAAC	0.527000								Non-homologous end-joining					31	121					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529228	40529228	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:40529228C>T	ENST00000447116.2	+	6	1654	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	ZNF619_ENST00000314686.5_Silent_p.F393F|ZNF619_ENST00000429348.2_Silent_p.F409F|ZNF619_ENST00000432264.2_Silent_p.F409F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F449F|ZNF619_ENST00000522736.1_Silent_p.F400F|ZNF619_ENST00000456778.1_Silent_p.F365F	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	449					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAAAACTTTCAGCTGTAGCT	0.468000													21	79					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44342253	44342253	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44342253G>A	ENST00000216180.3	+	9	1610	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	PNPLA3_ENST00000423180.2_Silent_p.K475K	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	479					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CACTAGAGAAGAGTCTGTGAG	0.512000											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	96					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32093126	32093126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:32093126C>G	ENST00000438447.1	+	21	8229	c.7841C>G	c.(7840-7842)tCa>tGa	p.S2614*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2614*			O15018	PDZD2_HUMAN	PDZ domain containing 2	2614					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAGCACAATCAGAGGTGAGT	0.537000											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	80					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242322	113242322	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242322G>A	ENST00000369644.1	+	19	3460	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	MOV10_ENST00000413052.2_Missense_Mutation_p.E867K|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.E867K|MOV10_ENST00000369645.1_Missense_Mutation_p.E867K			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	867					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCAGTAGAAGAATTCCAAGG	0.562000													36	142					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:132652162C>G	ENST00000265342.7	-	5	841	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	198	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557000													17	73					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56485527	56485527	+	Translation_Start_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56485527G>T	ENST00000566157.1	+	1	126	c.3G>T	c.(1-3)atG>atT	p.M1I	OGFOD1_ENST00000568397.1_Start_Codon_SNP_p.M1I	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	1							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GGGAAGAGATGAATGGGAAGC	0.587000													42	177					5.20006e-24	5.54651e-24	1	1	0
SMTNL1	219537	broad.mit.edu	37	11	57310770	57310770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310770G>A	ENST00000457912.1	+	2	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	SMTNL1_ENST00000399154.2_Missense_Mutation_p.D193N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D219N			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	219										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAAGGAGCCCGATGGGAAAGA	0.557000													23	45					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44364973	44364973	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44364973G>C	ENST00000395749.2	-	1	124	c.48C>G	c.(46-48)ctC>ctG	p.L16L	CAMK2B_ENST00000346990.4_Silent_p.L16L|CAMK2B_ENST00000353625.4_Silent_p.L16L|CAMK2B_ENST00000395747.2_Silent_p.L16L|CAMK2B_ENST00000258682.6_Silent_p.L16L|CAMK2B_ENST00000350811.3_Silent_p.L16L|CAMK2B_ENST00000457475.1_Silent_p.L16L|CAMK2B_ENST00000358707.3_Silent_p.L16L|CAMK2B_ENST00000347193.4_Silent_p.L16L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Silent_p.L16L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	16	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TATCCTCGTAGAGCTGGTACT	0.756000													6	10					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31302219	31302219	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:31302219G>C	ENST00000382310.3	+	12	2660	c.2624G>C	c.(2623-2625)tGa>tCa	p.*875S	OSBP2_ENST00000407373.1_Missense_Mutation_p.E709Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.E716Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.E426Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.E625Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.E515Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.E881Q|OSBP2_ENST00000332585.6_Missense_Mutation_p.E882Q			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACTGTGGTTTGAGAAGAGGCT	0.627000													34	81					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452191	51452191	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:51452191G>A	ENST00000336334.3	-	4	868	c.516C>T	c.(514-516)atC>atT	p.I172I	KLK5_ENST00000593428.1_Silent_p.I172I|KLK5_ENST00000391809.2_Silent_p.I172I	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	172	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGACGTTGATGGGTCTGA	0.537000													22	85					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82056420	82056420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:82056420G>C	ENST00000395578.1	-	14	1781	c.1665C>G	c.(1663-1665)ttC>ttG	p.F555L	PRKG2_ENST00000418486.2_Missense_Mutation_p.F526L|PRKG2_ENST00000545647.1_Missense_Mutation_p.F135L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.F555L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	555	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAGCAACGCAGAATTTGGAGG	0.408000													21	49					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:86373294C>G	ENST00000604798.1	-	8	2414	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H	MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	404					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328000													14	28					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85768794	85768794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85768794G>C	ENST00000306434.3	+	4	454	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.E48Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	111					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGTAGCCTTGGAGCAACAGTC	0.408000													12	40					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252640	134252640	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:134252640G>A	ENST00000524765.1	-	4	5426	c.882C>T	c.(880-882)ctC>ctT	p.L294L	B3GAT1_ENST00000312527.4_Silent_p.L294L|B3GAT1_ENST00000392580.1_Silent_p.L294L|B3GAT1_ENST00000537389.1_Silent_p.L307L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	294					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CCAGGTCGTTGAGGGTGACAA	0.572000													15	64					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199101	81199101	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:81199101G>A	ENST00000394685.3	+	13	1928	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.E503E|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Silent_p.E503E			Q8WUJ3	K1199_HUMAN	KIAA1199	503										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGATGGGGGAGATGGAGGACA	0.527000													19	62					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61773577	61773577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61773577G>C	ENST00000423902.2	+	35	8202	c.7723G>C	c.(7723-7725)Gaa>Caa	p.E2575Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2575					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATCAATCTTGAAGATGGGAC	0.458000													16	47					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25773930	25773930	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25773930C>T	ENST00000428257.1	-	9	1358	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	NGLY1_ENST00000417874.2_Silent_p.Q393Q|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Silent_p.Q435Q|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Silent_p.Q435Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	435					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAATTATCCTCTGGAGAAGTT	0.398000													20	48					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176047844	176047844	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:176047844C>T	ENST00000310112.3	-	7	623	c.373G>A	c.(373-375)Gag>Aag	p.E125K	SNCB_ENST00000510387.1_Splice_Site_p.E125K|SNCB_ENST00000506696.1_Splice_Site_p.E125K|SNCB_ENST00000393693.2_Splice_Site_p.E125K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	125							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATATTCCTCCTGCATCACC	0.622000													14	54					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18239752	18239752	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18239752G>C	ENST00000262811.6	+	12	1127	c.1127G>C	c.(1126-1128)gGa>gCa	p.G376A	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ATTAGCAACGGAGCCTATGGG	0.597000													18	79					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020150	166020150	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166020150C>G	ENST00000283254.7	-	7	1139	c.672G>C	c.(670-672)ctG>ctC	p.L224L	SCN3A_ENST00000360093.3_Intron|SCN3A_ENST00000409101.3_Intron	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	224						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAATTGTTTTCAGTGCTCGGA	0.403000													12	22					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889768	40889768	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:40889768G>A	ENST00000291823.2	-	2	1028	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	248	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGCGCTTGAAGAAGTGGTGGG	0.627000													11	97					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520033	63520033	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63520033G>A	ENST00000377819.5	+	5	2947	c.2793G>A	c.(2791-2793)atG>atA	p.M931I	RTN3_ENST00000537981.1_Missense_Mutation_p.M135I|RTN3_ENST00000356000.3_Missense_Mutation_p.M154I|RTN3_ENST00000339997.4_Missense_Mutation_p.M912I|RTN3_ENST00000540798.1_Missense_Mutation_p.M819I|RTN3_ENST00000341307.2_Missense_Mutation_p.M135I|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	931	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATAATTACATGAATGCTGCCA	0.423000													39	117					0	0	1	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584728	72584728	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:72584728C>A	ENST00000375352.1	-	2	381	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	101	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CTGTCAGCATCATCTCTTTTG	0.443000													14	155					9.31168e-06	9.53646e-06	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49710506	49710506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:49710506G>C	ENST00000492622.2	+	6	834	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E121Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E177Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	177						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTTAGAGATGAACGATCTAG	0.378000													12	40					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528466	169528466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:169528466C>G	ENST00000367796.3	-	5	856	c.655G>C	c.(655-657)Gat>Cat	p.D219H	F5_ENST00000546081.1_Missense_Mutation_p.D82H|F5_ENST00000367797.3_Missense_Mutation_p.D219H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	219	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGCTTTCATCAAACACAGCA	0.453000													20	74					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223163986	223163986	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223163986G>A	ENST00000284476.6	+	4	723	c.559G>A	c.(559-561)Gac>Aac	p.D187N	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	187					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTGATAGCCGACTGGCCGGT	0.498000													40	110					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134346119	134346119	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134346119G>C	ENST00000282611.6	+	7	1079	c.993G>C	c.(991-993)ttG>ttC	p.L331F		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	331					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGACCTTGAGCCACACTG	0.463000													39	69					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44442825	44442825	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:44442825G>C	ENST00000342649.4	+	10	1676	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	TCAIM_ENST00000417237.1_Splice_Site_p.E417Q	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2			T cell activation inhibitor, mitochondrial																		AAGAAAGGAAGAGTAAGTACT	0.398000													19	55					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149932879	149932879	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149932879C>G	ENST00000261797.6	+	15	3136	c.2634C>G	c.(2632-2634)ctC>ctG	p.L878L	NDST1_ENST00000521752.1_3'UTR|NDST1_ENST00000523767.1_Silent_p.L821L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	878	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGACCTCCAGAACACCA	0.567000													66	375					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154862187	154862187	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154862187C>G	ENST00000460393.1	+	14	1477	c.1357C>G	c.(1357-1359)Cag>Gag	p.Q453E	MME_ENST00000462745.1_Missense_Mutation_p.Q453E|MME_ENST00000492661.1_Missense_Mutation_p.Q453E|MME_ENST00000493237.1_Missense_Mutation_p.Q453E|MME_ENST00000360490.2_Missense_Mutation_p.Q453E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	453					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)	AGTTTTTATTCAGACTTTAGA	0.363000													8	32					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	111136325	111136325	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111136325G>A	ENST00000368911.3	-	1	194	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	5							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTTCGCCTTGAAATCATAAT	0.652000													20	49					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108378015	108378015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:108378015C>T	ENST00000263054.6	-	21	2819	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.E938K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E473K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	938						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCTCCAAGGTGATC	0.463000													15	51					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120764493	120764493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:120764493G>A	ENST00000310396.5	+	8	1494	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CPED1_ENST00000450913.2_Missense_Mutation_p.E343K|CPED1_ENST00000423795.1_Missense_Mutation_p.E123K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGTATTCAGTGAAACATCTAC	0.343000													7	35					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683551	27683551	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:27683551C>A	ENST00000374040.3	-	23	3549	c.3289G>T	c.(3289-3291)Gac>Tac	p.D1097Y	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1105Y|MAP3K6_ENST00000493901.1_Missense_Mutation_p.D1105Y			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1105					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGAGTCCAGAACGAAC	0.652000													15	49					1.67942e-08	1.74952e-08	1	1	0
UTP20	27340	broad.mit.edu	37	12	101684562	101684562	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:101684562C>G	ENST00000261637.4	+	8	961	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	263					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACAGAAACTCAACTACCATG	0.343000													17	58					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420524	27420524	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27420524G>C	ENST00000211936.6	-	6	1098	c.814C>G	c.(814-816)Cat>Gat	p.H272D	ZNF184_ENST00000377419.1_Missense_Mutation_p.H272D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCAGTATGAATTCTTTGA	0.378000													17	85					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2837350	2837350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2837350C>T	ENST00000397885.2	-	3	340	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	45						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GACTTTAGGTCCACCTTCTTT	0.373000													17	79					0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242594013	242594013	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:242594013C>G	ENST00000405546.3	+	5	838	c.336C>G	c.(334-336)ctC>ctG	p.L112L	ATG4B_ENST00000474739.2_Silent_p.L98L|ATG4B_ENST00000402096.1_Silent_p.L38L|ATG4B_ENST00000396411.3_Silent_p.L38L|ATG4B_ENST00000404914.3_Silent_p.L112L			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	112					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TCAGCGTCCTCAACGCATTCA	0.502000													5	10					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31602844	31602844	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602844C>G	ENST00000399332.1	-	23	4104	c.3616G>C	c.(3616-3618)Gag>Cag	p.E1206Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1206Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTGTTTCTCATCCTTTGGT	0.363000													7	24					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142389	5142389	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5142389G>A	ENST00000498233.1	-	0	1009																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTGTCGAGTGAATACTATAG	0.458000													12	39					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495221	39495221	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:39495221G>C	ENST00000265707.5	+	9	871	c.826G>C	c.(826-828)Gtt>Ctt	p.V276L	ADAM18_ENST00000379866.1_Splice_Site_p.V252L|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	276	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACTTACTTGTGTAAGCACA	0.353000													10	18					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160599728	160599728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160599728G>A	ENST00000259050.4	+	3	432	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409175.1_Missense_Mutation_p.G104R|MARCH7_ENST00000409591.1_Missense_Mutation_p.G66R|MARCH7_ENST00000539065.1_Missense_Mutation_p.G104R	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TACCTCAGCTGGGAGAAATGT	0.403000													25	48					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99957061	99957061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99957061C>T	ENST00000448382.1	+	8	1830	c.713C>T	c.(712-714)tCt>tTt	p.S238F	PILRB_ENST00000452089.1_Silent_p.L186L|PILRB_ENST00000610247.1_Silent_p.L186L|PILRB_ENST00000609309.1_Silent_p.L186L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Silent_p.L186L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTAAGTCTGGACACTGC	0.562000													22	76					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901514	61901514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61901514C>G	ENST00000427159.2	-	12	1729	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	362					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						tcctcctcctcttcctcctcc	0.542000													51	177					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063878	51063878	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:51063878C>T	ENST00000547307.1	-	8	1624	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	ARSA_ENST00000216124.5_Missense_Mutation_p.D409N|ARSA_ENST00000547805.1_Missense_Mutation_p.D407N|ARSA_ENST00000395621.3_Missense_Mutation_p.D409N|ARSA_ENST00000453344.2_Missense_Mutation_p.D323N|ARSA_ENST00000356098.5_Missense_Mutation_p.D409N|ARSA_ENST00000395619.3_Missense_Mutation_p.D409N			P15289	ARSA_HUMAN	arylsulfatase A	407			Missing (in MLD; late-infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCAGTGGTATCACTGTGGGCA	0.642000													85	71					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160119741	160119741	+	Missense_Mutation	SNP	G	G	A	rs141249752	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:160119741G>A	ENST00000357388.3	+	3	629	c.178G>A	c.(178-180)Gag>Aag	p.E60K	SMC4_ENST00000462787.1_Missense_Mutation_p.E60K|SMC4_ENST00000344722.5_Missense_Mutation_p.E60K|SMC4_ENST00000360111.2_Missense_Mutation_p.E60K|SMC4_ENST00000469762.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	60					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGTTTAGAAGAGATTTTGAA	0.448000													33	111					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39899334	39899334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39899334G>A	ENST00000597629.1	+	2	1068	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ZFP36_ENST00000248673.3_Missense_Mutation_p.E326K			P26651	TTP_HUMAN	ZFP36 ring finger protein	326					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCTGTTTCTGAGTGACAAAG	0.617000													16	70					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561352	44561352	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:44561352G>T	ENST00000332567.4	-	1	636	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	95					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCTGTCGGGAAGCGCTCTC	0.657000													22	67					1.40151e-16	1.48369e-16	1	1	0
SGK223	157285	broad.mit.edu	37	8	8176545	8176545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8176545C>T	ENST00000520004.1	-	6	3604	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K	SGK223_ENST00000330777.4_Missense_Mutation_p.E1114K			Q86YV5	SG223_HUMAN		1114	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										TCGTACGCCTCGGGCTCCGCC	0.672000													78	203					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155667	50155667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:50155667C>G	ENST00000360565.3	+	7	2145	c.2021C>G	c.(2020-2022)tCg>tGg	p.S674W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	674	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCCACCTCGTGTGGTGAC	0.706000													11	23					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088242	147088242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:147088242C>T	ENST00000370467.3	+	3	492	c.418C>T	c.(418-420)Cag>Tag	p.Q140*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	140	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAAAATCAGGTGGCAAA	0.378000													29	30					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20413042	20413042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:20413042G>A	ENST00000337963.4	-	5	934	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R224C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	224						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTCTGCTTACGAAGTAAGGCC	0.423000													48	123					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161137269	161137269	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161137269G>T	ENST00000367999.4	+	4	597	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G111C|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	111					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTACCCACTGGCCTCAGGTA	0.507000													8	44					0.000157383	0.000159737	1	1	0
TNXB	7148	broad.mit.edu	37	6	32010104	32010104	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32010104G>A	ENST00000375244.3	-	41	12447	c.12246C>T	c.(12244-12246)ttC>ttT	p.F4082F	TNXB_ENST00000375247.2_Silent_p.F4080F|TNXB_ENST00000451343.1_Silent_p.F511F			P22105	TENX_HUMAN	tenascin XB	4127	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCCCTCCAGAAGTCTGTCT	0.612000													9	45					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88704122	88704122	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88704122G>A	ENST00000372027.5	-	5	873	c.552C>T	c.(550-552)ctC>ctT	p.L184L	MMRN2_ENST00000488950.1_Intron	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CATCATTCTGGAGATCTCCCA	0.532000													52	136					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143537	41143537	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41143537A>G	ENST00000361677.1	+	5	1658	c.1646A>G	c.(1645-1647)cAg>cGg	p.Q549R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	549	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGAATGAGCAGCGTCTGGTG	0.547000													17	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059942	9059942	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9059942G>A	ENST00000397910.4	-	3	27707	c.27504C>T	c.(27502-27504)caC>caT	p.H9168H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9170	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCGAAGAAGAGTGGATGCTGT	0.517000													10	54					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748188	19748188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:19748188G>A	ENST00000400113.3	-	5	1272	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCCAGGCGAGCCCAGGCC	0.647000													44	175					0	0	1	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972770	116972770	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:116972770G>A	ENST00000480237.1	+	0	1041					NR_027345.1																						acaggtcccagaatcggggtg	0.562000													11	29					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121098025	121098025	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121098025G>C	ENST00000453000.1	+	3	1032	c.520G>C	c.(520-522)Gac>Cac	p.D174H	CABP1_ENST00000351200.2_Missense_Mutation_p.D35H|CABP1_ENST00000316803.3_Missense_Mutation_p.D238H|CABP1_ENST00000288616.3_Missense_Mutation_p.D95H			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	238						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGAGAATTCGACAAGGACAA	0.582000													27	76					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844829	15844829	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:15844829C>T	ENST00000546424.1	-	2	438	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000333868.5_Missense_Mutation_p.R65Q|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R65Q			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	65	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.R65P(1)|p.R65L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGACTCCCTCGAGTCTCCAG	0.527000													25	80					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132502203	132502203	+	Silent	SNP	G	G	A	rs141645142		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:132502203G>A	ENST00000333577.4	+	21	4264	c.4155G>A	c.(4153-4155)gcG>gcA	p.A1385A	EP400_ENST00000330386.6_Silent_p.A1349A|EP400_ENST00000389561.2_Silent_p.A1349A|EP400_ENST00000389562.2_Silent_p.A1348A|EP400_ENST00000332482.4_Silent_p.A1312A			Q96L91	EP400_HUMAN	E1A binding protein p400	1385					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGTGGCGGGGCCACTGG	0.582000													22	77					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151378586	151378586	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151378586C>T	ENST00000271715.2	-	19	3239	c.2925G>A	c.(2923-2925)gtG>gtA	p.V975V	POGZ_ENST00000392723.1_Silent_p.V922V|POGZ_ENST00000361398.3_Silent_p.V922V|POGZ_ENST00000491586.1_Silent_p.V931V|POGZ_ENST00000531094.1_Silent_p.V913V|POGZ_ENST00000409503.1_Silent_p.V966V|POGZ_ENST00000540984.1_Silent_p.V337V|POGZ_ENST00000368863.2_Silent_p.V880V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	975					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTTCTTCACAGACAGCT	0.517000													35	112					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419344	25419344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:25419344C>T	ENST00000315368.3	+	28	2324	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.R729*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	728					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GAATGGTTTTCGAAAAGTGTC	0.398000													30	89					0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68503654	68503654	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68503654G>A	ENST00000564752.1	-	5	639	c.515C>T	c.(514-516)tCg>tTg	p.S172L	CLN6_ENST00000249806.5_Silent_p.I163I|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Silent_p.I100I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000538696.1_Silent_p.I195I			Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	0					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAAGGAGTCGATCTGAGGGA	0.602000													28	99					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111734819	111734819	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:111734819G>A	ENST00000357640.4	-	8	1144	c.915C>T	c.(913-915)ttC>ttT	p.F305F	DENND2D_ENST00000369752.5_Silent_p.F302F	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	305	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTCCAACCATGAAGGGGGTGG	0.572000													17	52					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129636636	129636636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:129636636G>A	ENST00000421865.2	+	25	3620	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1191	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGAAGGCTGAGCAGACCAT	0.463000													22	71					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754751	9754751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9754751G>A	ENST00000383832.3	+	10	828	c.638G>A	c.(637-639)gGa>gAa	p.G213E	CPNE9_ENST00000383831.3_Missense_Mutation_p.G213E	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	213	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTGTGCAATGGAGACTATGAC	0.527000													11	33					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15478205	15478205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrY:15478205G>A	ENST00000331397.4	-	10	1815	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	UTY_ENST00000540140.1_Missense_Mutation_p.L270F|UTY_ENST00000329134.5_Missense_Mutation_p.L270F|UTY_ENST00000537580.1_Missense_Mutation_p.L270F|UTY_ENST00000545955.1_Missense_Mutation_p.L270F|UTY_ENST00000362096.4_Missense_Mutation_p.L270F|UTY_ENST00000382896.4_Missense_Mutation_p.L270F|UTY_ENST00000538878.1_Missense_Mutation_p.L270F	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	270					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GACTTTTGGAGATACTGAATA	0.368000													12	22					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353980	77353980	+	Silent	SNP	C	C	T	rs149346461	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:77353980C>T	ENST00000282849.5	-	16	2716	c.2298G>A	c.(2296-2298)ccG>ccA	p.P766P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	766	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAGGACCACCGGATAATATT	0.473000													6	67					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721466	141721466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:141721466G>C	ENST00000475668.2	+	6	693	c.639G>C	c.(637-639)ttG>ttC	p.L213F	MGAM_ENST00000549489.2_Missense_Mutation_p.L213F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	213	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCTTCTTTGACCTACCAAG	0.428000													16	64					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124968267	124968267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:124968267G>C	ENST00000522917.1	+	2	235	c.29G>C	c.(28-30)aGa>aCa	p.R10T	FER1L6_ENST00000399018.1_Missense_Mutation_p.R10T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	10						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGAAGAGAAATAAGGCA	0.463000													9	23					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43204836	43204836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:43204836C>A	ENST00000263245.5	-	13	1476	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.K375N|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.K347N	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	419					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCCAAACTTCTTCTGGGCCT	0.423000													41	109					4.16155e-14	4.38642e-14	1	1	0
HSPD1	3329	broad.mit.edu	37	2	198353941	198353941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:198353941G>A	ENST00000388968.3	-	9	1267	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L334F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	334					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ACGTCTTCAAGATTCAGGGTC	0.398000													19	42					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503891	149503891	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:149503891C>G	ENST00000378016.2	+	0	8719							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTTGCCCTCGGCTATGCCT	0.612000													4	12					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769497	51769497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:51769497G>A	ENST00000374056.4	+	7	1941	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	AGAP6_ENST00000412531.3_Missense_Mutation_p.D538N			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	538					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TATTGTCAATGACCTAGCCAA	0.537000													63	192					0	0	1	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175730	40175730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40175730C>G	ENST00000307641.5	+	4	1016	c.395C>G	c.(394-396)cCa>cGa	p.P132R	NKIRAS2_ENST00000393884.2_Missense_Mutation_p.P130R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.P132R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.P170R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.P132R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.P76R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.P132R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	132	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGTAGACCCAGATGTGGCT	0.587000													14	87					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9843424	9843424	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:9843424G>A	ENST00000397261.3	+	4	878	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	ARPC4_ENST00000287613.7_Missense_Mutation_p.R15Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R105Q|ARPC4_ENST00000498623.2_Missense_Mutation_p.R15Q|ARPC4_ENST00000433034.1_Missense_Mutation_p.R124Q	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTTATCCTTCGAAGGAAGCCT	0.498000													3	20					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389977	64389977	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389977G>C	ENST00000262043.3	+	3	661	c.321G>C	c.(319-321)ctG>ctC	p.L107L	PHF3_ENST00000393387.1_Silent_p.L107L|PHF3_ENST00000509330.1_Silent_p.L107L			Q92576	PHF3_HUMAN	PHD finger protein 3	107					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGAACTGATTTTACCTA	0.353000													16	77					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78322343	78322343	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:78322343G>A	ENST00000255189.3	-	13	2122	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	DMGDH_ENST00000540686.1_Silent_p.I318I|DMGDH_ENST00000380311.4_Silent_p.I497I	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	698					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			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)		CTGCATTCATGATAGCGTCAT	0.512000													22	74					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136004577	136004577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136004577G>C	ENST00000393157.3	-	1	211	c.129C>G	c.(127-129)ctC>ctG	p.L43L	RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000372062.3_Intron	NM_001271775.1	NP_001258704.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	282					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCGGGCTTTGGAGAGCGGCAC	0.687000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								4	19					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31239356	31239356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:31239356G>A	ENST00000435680.1	-	14	1622	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	MTMR10_ENST00000563714.1_Missense_Mutation_p.H427Y|MTMR10_ENST00000314404.8_Missense_Mutation_p.H261Y|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	509	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACTCGCTGGTGAGGGGAGTTG	0.473000													31	109					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32620589	32620589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:32620589C>G	ENST00000421745.2	+	6	1096	c.962C>G	c.(961-963)tCt>tGt	p.S321C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	321					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCTGCCTCATCTGGAGATGAT	0.323000													35	83					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31602831	31602831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:31602831C>A	ENST00000399332.1	-	23	4117	c.3629G>T	c.(3628-3630)tGg>tTg	p.W1210L	HECTD1_ENST00000553700.1_Missense_Mutation_p.W1210L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1210					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACATGTCTCCACCCTTGTTT	0.363000													8	38					0.00307968	0.00311084	1	1	0
CADPS	8618	broad.mit.edu	37	3	62501761	62501761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:62501761G>A	ENST00000383710.4	-	16	2903	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CADPS_ENST00000357948.3_Missense_Mutation_p.R835W|CADPS_ENST00000283269.9_Missense_Mutation_p.R852W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	852	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGAGAGCCGAGAATAGTTG	0.433000													22	61					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880396	24880396	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24880396G>A	ENST00000382554.3	+	5	2847	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	843					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGAAGAAGAACCGGAGGG	0.592000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	144					0	0	1	0	0
ATOH7	220202	broad.mit.edu	37	10	69991290	69991290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69991290C>T	ENST00000373673.3	-	1	581	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	49					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CGGCGGCGCTCGCGCGCGTTG	0.736000													7	22					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35517044G>A	ENST00000599564.1	+	20	2494	c.2423G>A	c.(2422-2424)tGa>tAa	p.*808*	GRAMD1A_ENST00000317991.5_Silent_p.*725*|GRAMD1A_ENST00000411896.2_Silent_p.*714*|GRAMD1A_ENST00000504615.2_Silent_p.*487*			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	0						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTTTTCCTGAGGACCCCGG	0.637000													19	62					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022357	12022357	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:12022357G>T	ENST00000396373.4	+	5	737		c.e5-1			NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6							cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGCTCCACAGATAACTGTGT	0.552000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								38	130					4.14481e-20	4.40711e-20	1	1	0
SLC6A7	6534	broad.mit.edu	37	5	149576666	149576666	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:149576666C>A	ENST00000230671.2	+	4	782	c.411C>A	c.(409-411)atC>atA	p.I137I	SLC6A7_ENST00000524041.1_Silent_p.I137I	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	137						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACATGATCATCGCCTACGTGC	0.622000													22	65					1.2644e-06	1.30596e-06	1	1	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:30659650C>T	ENST00000397827.3	-	8	1192	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.D231N|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.D140N	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	231						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGG	0.597000													12	68					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140297588	140297588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140297588G>A	ENST00000296543.5	+	16	2340	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	NAA15_ENST00000398947.1_Missense_Mutation_p.E673K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	673					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAACAAGATAGAGACTCATCT	0.338000													18	44					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872347	237872347	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237872347G>A	ENST00000366574.2	+	69	10408	c.10091G>A	c.(10090-10092)aGa>aAa	p.R3364K	RYR2_ENST00000360064.6_Missense_Mutation_p.R3362K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3348K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3364					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTGGCCAGAGATCTCTAT	0.463000													10	22					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:64112904G>C	ENST00000337130.5	+	6	1233	c.757G>C	c.(757-759)Gat>Cat	p.D253H	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.D242H|UGP2_ENST00000445915.2_Missense_Mutation_p.D262H|UGP2_ENST00000394417.2_Missense_Mutation_p.D242H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	253					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCTAACATAGATAATCTGGG	0.388000													19	65					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130027841	130027841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:130027841C>T	ENST00000011292.3	+	10	1399	c.1249C>T	c.(1249-1251)Cac>Tac	p.H417Y	CPA1_ENST00000484324.1_Missense_Mutation_p.H329Y	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	417					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CACCCTGAATCACCCCTACTG	0.567000													66	233					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661080	6661080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:6661080C>T	ENST00000299441.3	-	2	2176	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	589	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCCCTCAGGCAGTGAG	0.567000													11	65					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129744722	129744722	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:129744722G>A	ENST00000446488.3	-	18	2047	c.1944C>T	c.(1942-1944)atC>atT	p.I648I	NFRKB_ENST00000524794.1_Silent_p.I673I|NFRKB_ENST00000304521.5_Silent_p.I648I|NFRKB_ENST00000524746.1_Silent_p.I648I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	648					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCAGGTAGATCCACAGCT	0.488000													45	147					0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849404	134849404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:134849404G>A	ENST00000275767.3	+	2	434	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140							integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCCTGAGCTGGAAGCCCTGGG	0.622000													48	115					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167708	28167708	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:28167708G>T	ENST00000304658.5	-	7	1284	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	XPO6_ENST00000565698.1_Missense_Mutation_p.L248M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	262					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCAGACAGAGGAATCCAA	0.517000													22	92					2.37509e-13	2.50033e-13	1	1	0
TNXB	7148	broad.mit.edu	37	6	32021477	32021477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32021477C>T	ENST00000375244.3	-	25	8680	c.8479G>A	c.(8479-8481)Gaa>Aaa	p.E2827K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2825K			P22105	TENX_HUMAN	tenascin XB	2880	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTGCTTCATCCTCTGGA	0.587000													16	62					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158061274	158061274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:158061274C>T	ENST00000368172.1	+	7	853	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	KIRREL_ENST00000359209.6_Nonsense_Mutation_p.Q467*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q364*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q303*|KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q483*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q367*			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	467	Ig-like C2-type 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCGACTTTCAGACTCACTA	0.592000													39	113					0	0	1	0	0
C2orf49	79074	broad.mit.edu	37	2	105954067	105954067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:105954067G>A	ENST00000258457.2	+	1	252	c.23G>A	c.(22-24)cGc>cAc	p.R8H	C2orf49_ENST00000410049.1_Missense_Mutation_p.R8H|C2orf49_ENST00000437250.2_Missense_Mutation_p.R46H			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	8						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTGGGCGGTCGCAGCTGCACG	0.672000													11	28					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237619914	237619914	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:237619914C>T	ENST00000366574.2	+	16	1808	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	RYR2_ENST00000360064.6_Silent_p.L495L|RYR2_ENST00000542537.1_Silent_p.L481L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	497					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATCAACCTCGTGCTTGAGT	0.413000													12	57					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31283172	31283172	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31283172C>G	ENST00000544665.3	+	7	634	c.563C>G	c.(562-564)tCt>tGt	p.S188C	ITGAM_ENST00000287497.8_Missense_Mutation_p.S188C	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	188	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGCAGTTCTCTTTGATGCAG	0.517000													16	46					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46753882	46753882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46753882C>T	ENST00000460241.1	-	11	2682	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PRSS50_ENST00000315170.7_Missense_Mutation_p.E338K			Q9UI38	TSP50_HUMAN	protease, serine, 50	338	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGTGGGGCCTCGCTCTTCTGG	0.637000													15	48					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932606	110932606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:110932606C>G	ENST00000265171.5	+	24	4064	c.3619C>G	c.(3619-3621)Cag>Gag	p.Q1207E	EGF_ENST00000509793.1_Missense_Mutation_p.Q1165E|EGF_ENST00000503392.1_Missense_Mutation_p.Q1166E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1207					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAGCTGACTCAGTGAAAACT	0.443000													22	97					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89725197	89725197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:89725197G>A	ENST00000371953.3	+	9	2537	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	394					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCTTTTGATGAAGATCAGCA	0.328000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			10	19					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259526	47259526	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47259526G>A	ENST00000256996.4	+	8	1357	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	DDB2_ENST00000378600.3_Missense_Mutation_p.D199N|DDB2_ENST00000378603.3_Missense_Mutation_p.D324N|DDB2_ENST00000378601.3_3'UTR	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	388					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						TCAGCTCTATGACCCAGAATC	0.463000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	63					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427438	49427438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49427438G>A	ENST00000301067.7	-	39	11049	c.11050C>T	c.(11050-11052)Caa>Taa	p.Q3684*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGAATGTTGCTGTTGCTGC	0.597000													33	112					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907508	139907508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139907508G>A	ENST00000297183.6	+	28	5262	c.5138G>A	c.(5137-5139)aGa>aAa	p.R1713K	ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1713K|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R96K|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1713K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGGGAAGAGGAGGATGC	0.378000													7	29					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008329	71008329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:71008329G>A	ENST00000354624.5	+	10	1548	c.1415G>A	c.(1414-1416)aGg>aAg	p.R472K	HKDC1_ENST00000395086.2_Missense_Mutation_p.R472K|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	472					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATCGACAGGGTGCTGGCT	0.652000													23	52					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71883391	71883391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:71883391G>C	ENST00000258104.3	+	42	4886	c.4609G>C	c.(4609-4611)Gaa>Caa	p.E1537Q	DYSF_ENST00000409762.1_Missense_Mutation_p.E1554Q|DYSF_ENST00000409366.1_Missense_Mutation_p.E1559Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E1545Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E1575Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E1576Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.E1555Q|DYSF_ENST00000409651.1_Missense_Mutation_p.E1569Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E1538Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E1558Q|DYSF_ENST00000413539.2_Missense_Mutation_p.E1568Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1537						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGGAGACAGAAGATCCATC	0.507000													77	263					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1795702	1795702	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:1795702C>G	ENST00000399161.2	-	25	4245	c.3498G>C	c.(3496-3498)caG>caC	p.Q1166H	MYT1L_ENST00000407844.1_Missense_Mutation_p.Q164H|MYT1L_ENST00000428368.2_Missense_Mutation_p.Q1164H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1166					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTCTGGACTCTGATAACGAT	0.363000													11	30					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641610	55641610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:55641610C>G	ENST00000343870.4	+	1	629	c.539C>G	c.(538-540)tCt>tGt	p.S180C		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGTGATGTTTCTCCTATACTG	0.433000													20	79					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48884887	48884887	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884887G>C	ENST00000265563.8	-	1	392	c.143C>G	c.(142-144)tCa>tGa	p.S48*	PRKAR2A_ENST00000454963.1_Nonsense_Mutation_p.S48*|PRKAR2A_ENST00000296446.8_Nonsense_Mutation_p.S48*	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GGGCAGGACTGAGGCTGGGGC	0.726000													6	11					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169625	207169625	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207169625C>G	ENST00000374423.3	+	5	759	c.373C>G	c.(373-375)Cag>Gag	p.Q125E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	125							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCATAAATCTCAGGAAGGCAC	0.468000													9	27					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3206032	3206032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:3206032G>A	ENST00000380989.2	-	7	714	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	PITRM1_ENST00000224949.4_Missense_Mutation_p.L226F|PITRM1_ENST00000451104.2_Missense_Mutation_p.L194F|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	194					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGGTCAGGAAGAAGTCTGTTC	0.438000													25	70					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46492002	46492002	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46492002G>A	ENST00000231751.4	-	7	1160	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	LTF_ENST00000426532.2_Missense_Mutation_p.L245F|LTF_ENST00000417439.1_Missense_Mutation_p.L289F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	289	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGGCGGAGAAGATTCCAGATG	0.562000													9	27					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75156971	75156971	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:75156971C>T	ENST00000418756.1	-	0	482					NR_028059.1															lung(1)	1						GCGCGCGCGTCTGCTCGCGAG	0.726000													5	12					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3765738	3765738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3765738C>T	ENST00000379751.4	-	1	1599	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	465	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GAGGAGCTCTCCTCATCTTCC	0.617000													17	59					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29091372	29091372	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:29091372C>T	ENST00000569815.1	-	0	329					NR_047567.1																						TTACCTCTTTCAGCTGAGCTC	0.567000													3	21					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154514972	154514972	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154514972G>C	ENST00000409663.3	+	19	1993	c.1941G>C	c.(1939-1941)atG>atC	p.M647I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.M648I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M564I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	647						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATATGCAGATGATTAATTTCA	0.378000													8	36					0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58319728	58319728	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:58319728G>C	ENST00000391701.1	-	3	1073	c.904C>G	c.(904-906)Cag>Gag	p.Q302E	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAAAATTTCTGACAAACCTCA	0.433000													25	62					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160696	49160696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49160696G>A	ENST00000418109.1	-	27	4257	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1365W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1365	Domain II.				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)		GTCCGATGCCGAGCACTTGCC	0.587000													41	124					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78328356	78328356	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:78328356C>G	ENST00000582970.1	+	36	10985	c.10842C>G	c.(10840-10842)ctC>ctG	p.L3614L	RNF213_ENST00000508628.2_Silent_p.L3663L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1687L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGACGCTCTCCAGGAGGCGG	0.547000													14	52					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148871318	148871318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:148871318G>C	ENST00000296051.2	+	7	1423	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	HPS3_ENST00000460120.1_Missense_Mutation_p.R263T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	428						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTGCTTTAAGAATACAGCTT	0.378000									Hermansky-Pudlak syndrome				28	61					0	0	1	0	0
FAM46A	55603	broad.mit.edu	37	6	82461733	82461733	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:82461733G>A	ENST00000369754.3	-	2	495	c.183C>T	c.(181-183)ttC>ttT	p.F61F	FAM46A_ENST00000369756.3_Silent_p.F123F|FAM46A_ENST00000320172.6_Silent_p.F42F			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	42										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		cgccaccgccgaagtcgccgc	0.677000													20	32					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815494	61815494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:61815494C>T	ENST00000280772.2	-	42	13178	c.12987G>A	c.(12985-12987)atG>atA	p.M4329I	ANK3_ENST00000373827.2_Missense_Mutation_p.M1813I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1820I|ANK3_ENST00000355288.2_Missense_Mutation_p.M953I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTCCTACTCATCTTTTTCA	0.473000													79	216					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710201	152710201	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:152710201C>T	ENST00000330912.2	-	13	2238	c.688G>A	c.(688-690)Gat>Aat	p.D230N	TREX2_ENST00000402951.1_Missense_Mutation_p.D273N|TREX2_ENST00000370232.1_Missense_Mutation_p.D273N|TREX2_ENST00000370231.2_Missense_Mutation_p.D230N|TREX2_ENST00000393862.2_Missense_Mutation_p.D230N|TREX2_ENST00000334497.2_Missense_Mutation_p.D273N|TREX2_ENST00000338525.2_Missense_Mutation_p.D230N|TREX2_ENST00000414588.1_Missense_Mutation_p.D272N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	273					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGTCATCAGGCGGCAAG	0.687000								Editing and processing nucleases					5	3					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109927815	109927815	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:109927815T>C	ENST00000537063.1	+	8	873	c.636T>C	c.(634-636)tgT>tgC	p.C212C	UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000342494.3_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGCAGGTCTGTGACTCCTGCC	0.458000													27	53					0	0	1	0	0
GSC2	2928	broad.mit.edu	37	22	19137311	19137311	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:19137311C>A	ENST00000086933.2	-	2	377	c.378G>T	c.(376-378)acG>acT	p.T126T		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	126					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GGTGGCGCCTCGTGCGCCGCT	0.716000													8	19					1.12685e-05	1.14989e-05	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308767	117308767	+	Missense_Mutation	SNP	C	C	G	rs140883925		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117308767C>G	ENST00000321322.6	-	25	4457	c.4456G>C	c.(4456-4458)Gag>Cag	p.E1486Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1216Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1426	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCCACTCCTCGCTGTTGTCC	0.602000													17	43					0	0	1	0	0
IL10	3586	broad.mit.edu	37	1	206944333	206944333	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206944333C>T	ENST00000423557.1	-	3	355	c.297G>A	c.(295-297)gaG>gaA	p.E99E	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	99					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGTCTTGGTTCTCAGCTTGGG	0.547000													39	110					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109517317	109517317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109517317C>T	ENST00000357672.3	-	13	2749	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	WDR47_ENST00000400794.3_Missense_Mutation_p.E828K|WDR47_ENST00000369965.4_Missense_Mutation_p.E821K|WDR47_ENST00000369962.3_Missense_Mutation_p.E820K|WDR47_ENST00000361054.3_Missense_Mutation_p.E792K			O94967	WDR47_HUMAN	WD repeat domain 47	820										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTAGAATCTTCTTGACCTGTG	0.438000													7	19					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232100023	232100023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232100023G>A	ENST00000349938.4	+	8	903	c.709G>A	c.(709-711)Gac>Aac	p.D237N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	237							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GATCCAGGCCGACTACCACAA	0.488000													11	40					0	0	1	0	0
MED22	6837	broad.mit.edu	37	9	136213407	136213407	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:136213407G>C	ENST00000491289.1	-	2	692	c.111C>G	c.(109-111)atC>atG	p.I37M	MED22_ENST00000343730.5_Missense_Mutation_p.I37M|MED22_ENST00000371999.1_Missense_Mutation_p.I37M|MED22_ENST00000476080.1_Missense_Mutation_p.I37M|MED22_ENST00000471524.1_Intron|MED22_ENST00000344469.5_Missense_Mutation_p.I37M			Q15528	MED22_HUMAN	mediator complex subunit 22	37					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TGGCGGTCTTGATGATCTCGG	0.597000													33	80					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343511	234343511	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:234343511C>G	ENST00000264057.2	+	5	562	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	DGKD_ENST00000409813.3_Missense_Mutation_p.L140V	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	184					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGTGAGGCTCTGTCTGGGGT	0.567000													48	163					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113631013	113631013	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:113631013G>C	ENST00000200135.3	-	5	642	c.498C>G	c.(496-498)ctC>ctG	p.L166L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	166	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGTATTGTGAGCTCCATGC	0.393000													11	41					0	0	1	0	0
MANBAL	63905	broad.mit.edu	37	20	35929739	35929739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:35929739G>A	ENST00000373605.3	+	3	885	c.73G>A	c.(73-75)Gga>Aga	p.G25R	MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	25						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GCTACGGTACGGACTCTTCCT	0.597000													24	90					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160769463	160769463	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:160769463C>G	ENST00000392145.1	+	1	39	c.12C>G	c.(10-12)ttC>ttG	p.F4L	SLC22A3_ENST00000275300.2_Missense_Mutation_p.F4L			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	4						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)		TGCCCTCCTTCGACGAGGCGC	0.731000													12	33					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416061	62416061	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62416061G>A	ENST00000330574.2	-	2	1543	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	497					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGTGCTGCCAGAGGAAGCGCT	0.602000													52	167					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3481522	3481522	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:3481522G>C	ENST00000324266.5	+	10	2028	c.1833G>C	c.(1831-1833)caG>caC	p.Q611H	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Q611H	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	611							binding										AAGTAACACAGAAATTAGATG	0.308000													7	35					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119669775	119669775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:119669775G>C	ENST00000371322.5	-	16	2131	c.2070C>G	c.(2068-2070)ttC>ttG	p.F690L	CUL4B_ENST00000336592.6_Missense_Mutation_p.F695L|CUL4B_ENST00000404115.3_Missense_Mutation_p.F708L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	708					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGTCTTGAAAATCTCCT	0.348000													43	26					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91282539	91282539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91282539G>A	ENST00000357056.2	-	1	222	c.101C>T	c.(100-102)tCg>tTg	p.S34L	TTC7B_ENST00000328459.6_Missense_Mutation_p.S34L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	34							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAGCTTGGCCGACAGCTGCTT	0.751000													10	39					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38200664	38200664	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38200664G>A	ENST00000355202.4	-	3	664	c.69C>T	c.(67-69)ctC>ctT	p.L23L	CTD-2528L19.4_ENST00000586606.2_Silent_p.L23L|ZNF607_ENST00000395835.3_Silent_p.L23L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAACCAGGCTGAGATATTCCC	0.418000													18	59					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68721569	68721569	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68721569C>T	ENST00000264012.4	+	12	2269	c.1725C>T	c.(1723-1725)caC>caT	p.H575H	CDH3_ENST00000429102.2_Silent_p.H575H|CDH3_ENST00000581171.1_Silent_p.H520H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	575	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTCTCCCCACACCTCCCCTT	0.597000													23	91					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1257622	1257622	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1257622C>G	ENST00000264335.8	-	5	865	c.598G>C	c.(598-600)Gat>Cat	p.D200H	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D178H|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	200					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		ATTGCATCATCAAAAGCTGCT	0.353000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						13	29					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95590723	95590723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:95590723C>T	ENST00000393223.3	-	9	1093	c.431G>A	c.(430-432)aGa>aAa	p.R144K	MTMR2_ENST00000409459.1_Missense_Mutation_p.R144K|MTMR2_ENST00000352297.7_Missense_Mutation_p.R144K|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.R216K	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	216						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCTGCCTTCTATACTCTAA	0.338000													5	24					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639649	101639649	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:101639649G>T	ENST00000342239.3	-	16	4630	c.4539C>A	c.(4537-4539)ctC>ctA	p.L1513L	DNMBP_ENST00000324109.4_Silent_p.L1489L|DNMBP_ENST00000540316.1_Silent_p.L425L|DNMBP_ENST00000543621.1_Silent_p.L735L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1489	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCCTTTGACGAGGTCTTGAC	0.547000													32	101					1.08312e-15	1.14592e-15	1	1	0
HERPUD1	9709	broad.mit.edu	37	16	56970630	56970630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:56970630C>G	ENST00000439977.2	+	4	529	c.332C>G	c.(331-333)tCt>tGt	p.S111C	HERPUD1_ENST00000300302.5_Missense_Mutation_p.S110C|HERPUD1_ENST00000344114.4_Missense_Mutation_p.S110C|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S86C|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	111						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCTGCTGGTTCTAATCGGGGA	0.453000			T	ERG	prostate								14	53					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92560118	92560118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:92560118C>G	ENST00000545170.1	-	4	360	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	ATXN3_ENST00000503767.1_Missense_Mutation_p.E83Q|ATXN3_ENST00000340660.6_Missense_Mutation_p.E43Q|ATXN3_ENST00000532032.1_Missense_Mutation_p.E98Q|ATXN3_ENST00000429774.2_Missense_Mutation_p.E83Q|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.E98Q	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	98	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTCTGATACTCTGGACTGTTG	0.333000													15	62					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3926119	3926119	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:3926119G>A	ENST00000381638.2	-	44	7220	c.7096C>T	c.(7096-7098)Cac>Tac	p.H2366Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2366							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAAAACCGTGAGCCTGCCAA	0.453000													13	53					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	32					0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560623	30560623	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:30560623C>T	ENST00000221130.5	-	5	717	c.627G>A	c.(625-627)gaG>gaA	p.E209E	GSR_ENST00000541648.1_Silent_p.E209E|GSR_ENST00000414019.1_Silent_p.E166E|GSR_ENST00000537535.1_Silent_p.E209E|GSR_ENST00000546342.1_Silent_p.E209E	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	209					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGATCTGGCTCTCATGAGGGG	0.527000													37	113					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110256084	110256084	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:110256084C>T	ENST00000369813.1	+	2	938	c.33C>T	c.(31-33)ttC>ttT	p.F11F	GSTM5_ENST00000369812.5_Silent_p.F71F|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	AACTGAGCTTCCCCGGTTTCC	0.577000													9	198					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485920	36485920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36485920C>G	ENST00000342292.4	-	11	3552	c.3532G>C	c.(3532-3534)Gac>Cac	p.D1178H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGCCTCTGTCTTCTTGTTCC	0.552000													73	248					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1419439	1419439	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1419439G>C	ENST00000381524.3	+	10	1052	c.866G>C	c.(865-867)aGa>aCa	p.R289T	CSF2RA_ENST00000432318.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R156T|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R289T|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R289T			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	289						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTGAGCCCAGAGCAAAACAC	0.448000													29	101					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2939284	2939284	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:2939284G>C	ENST00000314531.4	-	2	217	c.125C>G	c.(124-126)tCc>tGc	p.S42C		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTACCCAAGGAGGCAAGGTT	0.567000													18	61					0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:93516176G>A	ENST00000222543.5	-	5	976	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R222C(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328000													11	52					0	0	1	0	0
LINC00957	255031	broad.mit.edu	37	7	44080405	44080405	+	RNA	SNP	A	A	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:44080405A>G	ENST00000441052.1	+	0	1090																											AGAGGAGGTCACGGTCAGCGC	0.672000													3	5					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398291	39398291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39398291G>C	ENST00000392079.3	+	5	963	c.865G>C	c.(865-867)Gac>Cac	p.D289H	NFKBIB_ENST00000572515.1_Missense_Mutation_p.D321H|NFKBIB_ENST00000313582.5_Missense_Mutation_p.D321H			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	321					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGACAGCGGAGACGAGGGCGT	0.652000													5	24					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23703600	23703600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23703600G>C	ENST00000256797.4	-	18	2465	c.2297C>G	c.(2296-2298)tCt>tGt	p.S766C	ERN2_ENST00000457008.2_Missense_Mutation_p.S666C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	718	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCCACCAGAAAGCACGTA	0.567000													32	104					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158112	38158112	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38158112C>T	ENST00000308059.6	+	28	4046	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	DLEC1_ENST00000346219.3_Missense_Mutation_p.S1342F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1345F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1342					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGGCCCCTCCAGTTCATCG	0.627000													35	99					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793777	65793777	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65793777G>C	ENST00000312106.5	-	1	211	c.74C>G	c.(73-75)tCt>tGt	p.S25C		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	25					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGATGAGTGAGAGCGAAAGAA	0.542000													33	132					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128939716	128939716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128939716G>A	ENST00000375990.3	+	37	4427	c.4024G>A	c.(4024-4026)Gat>Aat	p.D1342N	UGGT1_ENST00000259253.6_Missense_Mutation_p.D1366N			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1366	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTACGAACAGATCTGAAAGA	0.428000													32	94					0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:3102035G>A	ENST00000217173.2	-	3	1721	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.S417L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	417						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						ATTACCTGTCGAGCAGTCCAT	0.527000													12	55					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62293224C>G	ENST00000378024.4	-	5	8939	c.8665G>C	c.(8665-8667)Gac>Cac	p.D2889H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2889					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517000													82	258					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56569025	56569025	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56569025C>T	ENST00000323456.5	-	19	3711	c.3587G>A	c.(3586-3588)tGa>tAa	p.*1196*	MTMR4_ENST00000579925.1_Silent_p.*1139*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	0						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCGGCATTCAACTGGAAGC	0.468000													19	57					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33310999	33310999	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:33310999C>T	ENST00000327671.5	-	3	742	c.111G>A	c.(109-111)agG>agA	p.R37R	FUT10_ENST00000518672.1_Silent_p.R9R|FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000524021.1_Silent_p.R9R|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	37					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TAAACTCCTTCCTTTCAAACT	0.363000													19	70					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857358	140857358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140857358G>A	ENST00000308177.3	+	1	1779	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTCACTGATCGCAATGA	0.557000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	80					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166207	206166207	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206166207C>T	ENST00000406610.2	+	18	2619	c.2412C>T	c.(2410-2412)agC>agT	p.S804S	PARD3B_ENST00000351153.1_Silent_p.S735S|PARD3B_ENST00000462231.1_Silent_p.S804S|PARD3B_ENST00000358768.2_Silent_p.S742S|PARD3B_ENST00000349953.3_Silent_p.S804S	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	804					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)		CTGATAAGAGCTCTCACTCTG	0.443000													31	82					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340229	55340229	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55340229A>C	ENST00000314634.3	+	1	626	c.626A>C	c.(625-627)tAt>tCt	p.Y209S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCAGTGAGTTATGTCATGCTA	0.433000													17	45					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	rs118203683		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	141					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207559580	207559580	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:207559580G>C	ENST00000452335.2	-	8	857	c.741C>G	c.(739-741)ctC>ctG	p.L247L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	247						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGTCAAAGTTGAGACACTTCA	0.393000													18	47					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561016	41561016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:41561016G>C	ENST00000400454.1	-	12	2983	c.2506C>G	c.(2506-2508)Ctt>Gtt	p.L836V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	836	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGACACAAGATAACGGGCC	0.473000													39	113					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061436	89061436	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:89061436C>T	ENST00000555900.1	+	1	678	c.366C>T	c.(364-366)ttC>ttT	p.F122F	ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Silent_p.F122F|ZC3H14_ENST00000406216.3_Silent_p.F122F|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000302216.8_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	560						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAATCGGCTTCCTTAGAAACG	0.343000													6	37					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127514	150127514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150127514C>G	ENST00000361875.3	+	1	1393	c.377C>G	c.(376-378)aCt>aGt	p.T126S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.T126S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGCTGCCACTTCGGCCCCC	0.741000													23	47					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227467	43227467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:43227467G>A	ENST00000332499.2	+	1	2784	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	304	Mediates interaction with CCNT1.				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	p.E304K(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATGGAGGACGAGAACAACCG	0.647000													16	163					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321997	55321997	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55321997A>T	ENST00000314644.2	+	1	215	c.215A>T	c.(214-216)aAt>aTt	p.N72I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTCACAGAATCCAAATGTT	0.398000										HNSCC(20;0.049)			35	96					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76496512	76496512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76496512G>C	ENST00000389840.5	-	36	5597	c.5473C>G	c.(5473-5475)Ctc>Gtc	p.L1825V	DNAH17_ENST00000585328.1_Missense_Mutation_p.L1834V|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.E148D					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCCATGATGAGATGGAGGGAC	0.592000													12	19					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:9396492G>C	ENST00000262120.5	+	4	629	c.438G>C	c.(436-438)caG>caC	p.Q146H	TWSG1_ENST00000581641.1_Missense_Mutation_p.Q146H	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	146										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACACCACCAGAATGTGTCTG	0.443000													17	60					0	0	1	0	0
C11orf83	790955	broad.mit.edu	37	11	62439326	62439326	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62439326G>A	ENST00000531323.1	+	2	652	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	C11orf83_ENST00000377953.3_Missense_Mutation_p.E37K			Q6UW78	CK083_HUMAN	chromosome 11 open reading frame 83	37						extracellular region				cervix(1)|lung(1)|prostate(1)	3						GCGGAAGCAGGAAATGCTAAA	0.632000													21	62					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6589554	6589554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6589554C>T	ENST00000433363.2	-	12	1912	c.1679G>A	c.(1678-1680)tGg>tAg	p.W560*	SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.W517*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.W514*|SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.W543*	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	560						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACATTAGCCCAGTCAGGGAA	0.473000													36	126					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198225575	198225575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:198225575G>C	ENST00000367383.1	+	4	500	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q	NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron			Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	0	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAATCTTTTTGAAAATTTACC	0.333000													3	30					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893824	16893824	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16893824C>G	ENST00000432949.1	-	8	898	c.899G>C	c.(898-900)tGa>tCa	p.*300S	NBPF1_ENST00000430580.2_Missense_Mutation_p.E897Q|NBPF1_ENST00000420031.2_3'UTR			Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	0						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGCCCTTTCTCATCCAGCAGC	0.488000													25	756					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713004	32713004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32713004G>A	ENST00000374940.3	+	2	253	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	51	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTACACCCATGAATTTGATGG	0.502000													46	143					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55852644	55852644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:55852644G>A	ENST00000247178.5	-	5	615	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	194					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGATCGTCGAAGATTTGCC	0.408000													8	30					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172560143	172560143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:172560143G>C	ENST00000367723.4	+	18	3422	c.3298G>C	c.(3298-3300)Gaa>Caa	p.E1100Q	SUCO_ENST00000610051.1_Missense_Mutation_p.E578Q|SUCO_ENST00000263688.3_Missense_Mutation_p.E949Q|SUCO_ENST00000608151.1_Missense_Mutation_p.E1101Q	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ACAAATGGAAGAAATGCAAAA	0.318000													13	48					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490238	76490238	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76490238G>A	ENST00000389840.5	-	41	6370	c.6246C>T	c.(6244-6246)atC>atT	p.I2082I	DNAH17_ENST00000585328.1_Silent_p.I2091I|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGCTCCACGATGCTCTGCT	0.602000													27	21					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498204	5498204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:5498204C>G	ENST00000355029.4	+	11	1494	c.1352C>G	c.(1351-1353)tCc>tGc	p.S451C	NET1_ENST00000380359.3_Missense_Mutation_p.S397C|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Missense_Mutation_p.S270C	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	451	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						ATGGGAGGCTCCTTTCGAGGA	0.458000													13	47					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539300	62539300	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:62539300C>G	ENST00000570077.1	-	0	289																											TCTCCTCCCTCAACGTGTGCA	0.602000													13	23					0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57245657	57245657	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:57245657C>T	ENST00000371141.4	+	6	1370	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R216W|STX16_ENST00000355957.5_Missense_Mutation_p.R199W|STX16_ENST00000358029.4_Missense_Mutation_p.R212W|STX16_ENST00000359617.4_Missense_Mutation_p.R163W|STX16_ENST00000361830.3_Missense_Mutation_p.R216W|STX16_ENST00000371132.4_Missense_Mutation_p.R195W|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361770.5_Missense_Mutation_p.R199W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	216					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TCTTTACCATCGGGTACGTGA	0.473000													20	63					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424766	123424766	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123424766C>T	ENST00000542678.1	-	9	4473	c.1635G>A	c.(1633-1635)aaG>aaA	p.K545K	ABCB9_ENST00000344275.7_Silent_p.K545K|ABCB9_ENST00000442833.2_Silent_p.K545K|ABCB9_ENST00000280560.8_Silent_p.K545K|ABCB9_ENST00000346530.5_Silent_p.K502K|ABCB9_ENST00000540285.1_Silent_p.K482K|ABCB9_ENST00000392439.3_Silent_p.K545K|ABCB9_ENST00000442028.2_Silent_p.K545K|ABCB9_ENST00000541983.1_5'UTR			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	545	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACAGGAGCTCTTCCCACTGC	0.627000													11	48					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062850	208062850	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:208062850C>T	ENST00000356522.4	-	5	1035	c.714G>A	c.(712-714)gtG>gtA	p.V238V	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Silent_p.V80V|CD34_ENST00000310833.7_Silent_p.V238V|CD34_ENST00000537704.1_Silent_p.V103V	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	238					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGAGGCCTCACCTCAGACT	0.612000													11	37					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779175	3779175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3779175C>G	ENST00000310132.6	-	12	1410	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	MATK_ENST00000395045.2_Missense_Mutation_p.E339Q|MATK_ENST00000585778.1_Missense_Mutation_p.E338Q|MATK_ENST00000395040.2_Missense_Mutation_p.E297Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	338	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATGCCCTCGGCCACGTGC	0.652000													4	20					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831665	40831665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:40831665G>A	ENST00000591765.1	-	2	1714	c.329C>T	c.(328-330)tCa>tTa	p.S110L	CCR10_ENST00000332438.4_Missense_Mutation_p.S332L			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	332						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTGAGGCCCTGAGGGGCAGCT	0.711000													12	49					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222686	8222686	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8222686C>T	ENST00000361926.3	+	14	2353	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S748F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	748					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTTCCCTGCTCCCCAGACACC	0.552000													62	178					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634787	43634787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:43634787G>A	ENST00000290460.7	-	8	1052	c.991C>T	c.(991-993)Ccg>Tcg	p.P331S	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000360835.4_Intron			Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	0	EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAAGCACACGGAGGCTCTTGG	0.617000													11	27					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66890331	66890331	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890331T>A	ENST00000269080.2	-	21	3036	c.2899A>T	c.(2899-2901)Aga>Tga	p.R967*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.R1007*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.R1007*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	967						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATGTACTTCTTTCAGTTCGG	0.368000													5	25					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399747	8399747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:8399747C>T	ENST00000471889.1	+	8	2354	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	SLC45A1_ENST00000377479.2_Nonsense_Mutation_p.Q691*|SLC45A1_ENST00000289877.8_Nonsense_Mutation_p.Q657*			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	657					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGATTACTATCAGAGTAAGAA	0.527000													44	148					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1551937	1551937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1551937C>T	ENST00000357210.4	+	2	269	c.53C>T	c.(52-54)tCa>tTa	p.S18L	MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.S75L|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000378710.3_Missense_Mutation_p.S18L|MIB2_ENST00000520777.1_Missense_Mutation_p.S75L|MIB2_ENST00000360522.4_Missense_Mutation_p.S18L|MIB2_ENST00000355826.5_Missense_Mutation_p.S75L|MIB2_ENST00000505820.2_Missense_Mutation_p.S75L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	18					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTCCAGGCATCAGGGCTGCAG	0.652000													13	27					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530198	42530198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:42530198C>T	ENST00000282030.5	+	4	1189	c.893C>T	c.(892-894)tCa>tTa	p.S298L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	298						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCACAGCTCACCAGCCCCA	0.567000									Schinzel-Giedion syndrome				22	88					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732279	92732279	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:92732279T>A	ENST00000379958.2	-	3	3401	c.3132A>T	c.(3130-3132)gaA>gaT	p.E1044D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1044						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTTTCACCTTCATGTTCAT	0.378000													19	35					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962340	235962340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:235962340G>A	ENST00000409212.1	+	6	3279	c.2772G>A	c.(2770-2772)atG>atA	p.M924I	SH3BP4_ENST00000344528.4_Missense_Mutation_p.M924I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M924I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	924					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACAAGATGAAAAACCCCA	0.582000													49	153					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63916468	63916468	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:63916468G>T	ENST00000443617.2	-	72	13421	c.13334C>A	c.(13333-13335)cCt>cAt	p.P4445H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4445					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTAACAAAGGCCGAAGTTG	0.453000													31	75					5.60225e-13	5.894e-13	1	1	0
RET	5979	broad.mit.edu	37	10	43615571	43615571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:43615571G>A	ENST00000355710.3	+	15	2882	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	RET_ENST00000340058.5_Missense_Mutation_p.E884K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	884	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.E884K(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTGGTAGCTGAGGGGCGGAA	0.562000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				12	35					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:161753803C>T	ENST00000367942.3	+	4	338	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	91	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398000													24	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478785	179478785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179478785G>A	ENST00000589042.1	-	262	49563	c.49339C>T	c.(49339-49341)Cag>Tag	p.Q16447*	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q13879*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q14806*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q7382*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q7574*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q7507*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14806	Fibronectin type-III 19.						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)			TTACCAAACTGATATTTGGCT	0.343000													7	19					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114189165	114189165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:114189165C>T	ENST00000369615.1	+	12	2118	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	MAGI3_ENST00000307546.9_Nonsense_Mutation_p.Q686*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q686*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q711*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	711					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTATTCCTCAGCCTATGCC	0.383000													8	45					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72957812	72957812	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:72957812C>T	ENST00000264839.7	+	12	2223	c.2223C>T	c.(2221-2223)gtC>gtT	p.V741V	RIMS1_ENST00000425662.2_Silent_p.V134V|RIMS1_ENST00000491071.2_Silent_p.V741V|RIMS1_ENST00000523963.1_Silent_p.V215V|RIMS1_ENST00000518273.1_Silent_p.V741V|RIMS1_ENST00000517827.1_Silent_p.V200V|RIMS1_ENST00000348717.5_Silent_p.V741V|RIMS1_ENST00000517960.1_Silent_p.V741V|RIMS1_ENST00000522291.1_Silent_p.V741V|RIMS1_ENST00000521978.1_Silent_p.V741V|RIMS1_ENST00000520567.1_Silent_p.V741V|RIMS1_ENST00000401910.3_Silent_p.V215V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	741					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCCCACAAGTCTTACCAGGGC	0.398000													13	43					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207966935	207966935	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207966935G>T	ENST00000322875.4	+	13	1355	c.1199G>T	c.(1198-1200)tGa>tTa	p.*400L	CD46_ENST00000441839.2_Nonsense_Mutation_p.E364*|CD46_ENST00000322918.5_Nonsense_Mutation_p.E349*|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000354848.1_Nonstop_Mutation_p.*385L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000361067.1_Nonstop_Mutation_p.*386L|CD46_ENST00000480003.1_Nonstop_Mutation_p.*371L|CD46_ENST00000367047.1_Nonstop_Mutation_p.*337L|CD46_ENST00000360212.2_Nonstop_Mutation_p.*356L|CD46_ENST00000357714.1_Nonstop_Mutation_p.*370L	NM_172359.2	NP_758869.1	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	0					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CAGAGAGGCTGAATAGATTCC	0.413000													12	28					1.08611e-07	1.12729e-07	1	1	0
ACTL6B	51412	broad.mit.edu	37	7	100245112	100245112	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100245112C>T	ENST00000160382.5	-	8	820	c.714G>A	c.(712-714)gaG>gaA	p.E238E		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTAGCTTCTCCTTCTTCT	0.612000													27	99					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222481	53222481	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:53222481G>T	ENST00000375401.3	-	26	4883	c.4351C>A	c.(4351-4353)Cgg>Agg	p.R1451R	KDM5C_ENST00000404049.3_Silent_p.R1450R|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Silent_p.R1407R|KDM5C_ENST00000375379.3_Silent_p.R1448R	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCCGGCCCCGAGCCCGACTC	0.677000			"""N, F, S"""		clear cell renal carcinoma								16	15					1.2644e-06	1.30596e-06	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67049613	67049613	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:67049613C>T	ENST00000295568.4	+	2	278	c.147C>T	c.(145-147)ttC>ttT	p.F49F	KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.F75F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	75	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GCCCTTACTTCAGGTATGATG	0.428000													28	98					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612513	16612513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:16612513C>T	ENST00000443444.2	+	5	1282	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	CCDC144A_ENST00000360524.8_Missense_Mutation_p.S381F|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.S381F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.S381F|CCDC144A_ENST00000340621.5_Missense_Mutation_p.S380F			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	381																	CATCCATACTCTGGGTCCCAG	0.373000													16	58					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36718557	36718557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:36718557C>T	ENST00000216181.5	-	6	852	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	208	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTGCCGCTCCAGCTCGCCC	0.682000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				37	60					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1088741	1088741	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1088741G>A	ENST00000441003.2	+	26	3553	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K	MUC2_ENST00000359061.5_Missense_Mutation_p.E1176K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1176						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCTATGAGGAGGATCTGAA	0.612000													4	22					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2172900	2172900	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:2172900G>C	ENST00000511885.2	-	12	1736	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.L461L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	461					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAATTCCTTGAGACGAGCCT	0.348000								DNA polymerases (catalytic subunits)					16	73					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165065	151165065	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:151165065C>T	ENST00000282466.3	-	4	2703	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	902					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGAAATTCAGTTGCTCCA	0.413000													74	251					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654502	61654502	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:61654502C>T	ENST00000397985.2	+	7	1371	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	SERPINB8_ENST00000353706.2_Missense_Mutation_p.S372F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.S190F	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	372					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGCAGGTTCTCTTCTCCGTAA	0.473000													19	54					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297281	9297281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9297281C>T	ENST00000344248.2	+	1	1003	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	275					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCCGTGGCCTCGGTGATGTAC	0.547000													32	99					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814740	8814740	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8814740G>A	ENST00000447110.1	-	2	196	c.72C>T	c.(70-72)ctC>ctT	p.L24L	PIK3R5_ENST00000581552.1_Silent_p.L24L|PIK3R5_ENST00000584803.1_Silent_p.L24L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	24					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCTGAGGCTGAGTCCATGCA	0.672000													20	67					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50590174	50590174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:50590174C>G	ENST00000360473.4	+	1	785	c.545C>G	c.(544-546)tCt>tGt	p.S182C	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.S182C|TRIM13_ENST00000478111.1_Intron	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	182						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CAGTGTGGTTCTGACAGCACT	0.428000													14	47					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047228	46047228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46047228G>A	ENST00000397911.3	+	1	189	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	47	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						ACCCTGGTCTGCACCCCAGTG	0.701000													36	146					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273668	44273668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:44273668G>C	ENST00000262888.3	-	6	1370	c.975C>G	c.(973-975)ttC>ttG	p.F325L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	325	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TATGTTTGTAGAACATCCAGG	0.592000													50	127					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989717	70989717	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:70989717G>A	ENST00000256389.3	-	2	2152	c.1908C>T	c.(1906-1908)ctC>ctT	p.L636L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	586	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGTGTCATTGAGGTGAAACT	0.448000													35	87					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90497818	90497818	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:90497818C>T	ENST00000325643.5	+	1	78	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGGGAAATCTCGTCATCCCTC	0.607000													17	39					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54940071	54940071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:54940071G>A	ENST00000284061.3	+	12	1803	c.1623G>A	c.(1621-1623)atG>atA	p.M541I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	541					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CACATGCAATGATGTTATATT	0.453000													18	10					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17931249	17931249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:17931249C>T	ENST00000409389.1	-	4	410	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	SNX13_ENST00000409604.1_Missense_Mutation_p.E80K|SNX13_ENST00000428135.3_Missense_Mutation_p.E80K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	80					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CGTTTCATTTCTTCTAAGCAC	0.368000													5	21					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436824	16436824	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:16436824G>C	ENST00000380672.4	-	6	1425	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	BNC2_ENST00000545497.1_Silent_p.L361L|BNC2_ENST00000380666.2_Silent_p.L456L|BNC2_ENST00000380667.2_Silent_p.L389L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGAATTTTGAGAGTACCTT	0.448000													26	68					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2575996	2575996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:2575996C>T	ENST00000397195.5	+	7	1067	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.H35Y|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	206	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CAATGGAGATCATATAGTGTC	0.408000													17	50					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271570	17271570	+	Missense_Mutation	SNP	G	G	A	rs11545553		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:17271570G>A	ENST00000544301.1	+	2	562	c.149G>A	c.(148-150)cGc>cAc	p.R50H	VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.R50H	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	50	Head.			Missing (in Ref. 5; BAB71275).	cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCACCAGCCGCAGCCTCTAC	0.756000													9	22					0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205479	149205479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:149205479C>T	ENST00000305354.4	+	3	1242	c.338C>T	c.(337-339)tCa>tTa	p.S113L		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	113						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGCCATTTCAATCAACAAG	0.502000													19	62					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112321592	112321592	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:112321592G>T	ENST00000389063.2	+	2	312	c.114G>T	c.(112-114)caG>caT	p.Q38H	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.Q38H	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	38					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGTGTTTTCAGATTGAACTTG	0.373000													32	86					4.2108e-06	4.3255e-06	1	1	0
TPT1	7178	broad.mit.edu	37	13	45912831	45912831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:45912831C>T	ENST00000379056.1	-	4	548	c.378G>A	c.(376-378)atG>atA	p.M126I	TPT1_ENST00000379060.4_Missense_Mutation_p.M148I|TPT1_ENST00000530705.1_Missense_Mutation_p.M160I|TPT1_ENST00000309246.5_Missense_Mutation_p.M160I|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.M126I			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	160					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TAAAGAAAATCATATATGGGG	0.338000													15	42					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95185963	95185963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:95185963G>A	ENST00000354268.4	+	10	1460	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E33K|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E463K			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	463					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAACAAATGTGAAGACATTTC	0.348000													16	48					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545645	57545645	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:57545645G>A	ENST00000311180.8	+	3	1847	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	582							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCTAGTCATGAAGAAGTTAC	0.373000													37	110					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126142911	126142911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:126142911G>A	ENST00000263578.5	+	3	428	c.354G>A	c.(352-354)caG>caA	p.Q118Q	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Silent_p.Q104Q	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	118						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TTTGTCAGCAGTTCTCATTGC	0.483000													25	76					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121738811	121738811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:121738811C>G	ENST00000393376.1	-	13	1611	c.1516G>C	c.(1516-1518)Gaa>Caa	p.E506Q	AASS_ENST00000417368.2_Missense_Mutation_p.E506Q|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	506	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTGTTATTTCTATATTGCCA	0.333000													14	33					0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	677931	677931	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677931C>T	ENST00000166139.4	+	2	275	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	81	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACAAGATCAACCTCCTCG	0.622000			T	CCND1	B-CLL								29	106					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720870	21720870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:21720870G>A	ENST00000358491.4	+	4	2223	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						gatcgagaccgtcctggctaa	0.478000													4	50					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937997	33937997	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:33937997C>A	ENST00000330120.3	+	1	1507	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	384						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						ACAGCTGCCTCAACCCCGTCC	0.617000													51	147					3.50607e-19	3.72328e-19	1	1	0
PTPN3	5774	broad.mit.edu	37	9	112153421	112153421	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:112153421C>T	ENST00000412145.1	-	16	4263	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V	PTPN3_ENST00000446349.1_Silent_p.V525V|PTPN3_ENST00000374541.2_Silent_p.V701V|PTPN3_ENST00000262539.3_Silent_p.V547V|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000394827.3_Silent_p.V169V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	701	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AACTTACGTTCACGTAACTTG	0.438000													7	19					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220085587	220085587	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220085587G>C	ENST00000409618.1	-	15	2835	c.2396C>G	c.(2395-2397)tCt>tGt	p.S799C	ATG9A_ENST00000396761.2_Missense_Mutation_p.S799C|ATG9A_ENST00000361242.4_Missense_Mutation_p.S799C|ATG9A_ENST00000409422.1_Missense_Mutation_p.S738C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	799					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAATGAGAGGGAACCCT	0.577000													19	64					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428472	74428472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74428472G>C	ENST00000334571.2	+	11	1283	c.1243G>C	c.(1243-1245)Gaa>Caa	p.E415Q	COQ6_ENST00000394026.4_Missense_Mutation_p.E390Q|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.E340Q	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	415					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATGAAACAGAAAGACAGCG	0.483000													56	160					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32828367	32828367	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32828367C>G	ENST00000373534.3	+	1	570	c.65C>G	c.(64-66)tCa>tGa	p.S22*	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGGACCTACTCAAAAGTCAAA	0.507000													52	162					0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57021092	57021092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:57021092C>G	ENST00000374919.3	-	2	611	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	97					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTGTGAAGTTCCAATCCATAA	0.398000													50	57					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78269066	78269066	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:78269066C>G	ENST00000370791.3	+	4	517	c.485C>G	c.(484-486)tCa>tGa	p.S162*	FAM73A_ENST00000443751.2_Nonsense_Mutation_p.S124*	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	162						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGTAAATATTCAGGTTCTGCA	0.308000													10	36					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16382217	16382217	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16382217G>A	ENST00000375679.4	+	18	2004	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V	CLCNKB_ENST00000375667.3_Silent_p.V461V	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAACCAGTGACCCTGAAGC	0.617000													19	100					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201760084	201760084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201760084C>T	ENST00000409020.1	+	4	991	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	NIF3L1_ENST00000409357.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000359683.4_Nonsense_Mutation_p.Q206*|NIF3L1_ENST00000409588.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000416651.1_Nonsense_Mutation_p.Q233*			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	233					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACAACTTTATCAGAAGACGGA	0.348000													17	57					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539884	133539884	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:133539884C>T	ENST00000409261.1	-	14	4873	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	NCKAP5_ENST00000317721.6_Silent_p.Q1500Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1500							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCCAGGCTTCTGCTTTGCTT	0.473000													25	64					0	0	1	0	0
GPR88	54112	broad.mit.edu	37	1	101004970	101004970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:101004970C>G	ENST00000315033.4	+	2	887	c.448C>G	c.(448-450)Cag>Gag	p.Q150E		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	150						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CGCCACCTACCAGGCGCTGTA	0.741000													3	17					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125637732	125637732	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:125637732C>G	ENST00000485843.1	+	0	214					NR_024251.1																						TTAACAGACTCATCAGATTCT	0.473000													5	32					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	11					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29754631	29754631	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:29754631G>A	ENST00000375398.2	-	36	6475	c.6026C>T	c.(6025-6027)tCc>tTc	p.S2009F	SVIL_ENST00000355867.4_Missense_Mutation_p.S2009F|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S923F|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1583F			O95425	SVIL_HUMAN	supervillin	2009					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATCCCCAGAGGAGCTGCTGAG	0.512000													6	44					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123821011	123821011	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:123821011C>T	ENST00000420886.2	-	5	678	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SBNO1_ENST00000602398.1_Missense_Mutation_p.E227K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E226K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E226K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	227							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tcctctggttcatcatcttct	0.413000													5	28					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108724086	108724086	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108724086G>C	ENST00000232603.5	-	19	1926	c.1844C>G	c.(1843-1845)tCa>tGa	p.S615*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.S594*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	615					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACGGCTCGCTGAAAGCTCAAA	0.358000													6	35					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434320	100434320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:100434320C>G	ENST00000514652.1	+	2	436	c.82C>G	c.(82-84)Cta>Gta	p.L28V	C4orf17_ENST00000326581.4_Missense_Mutation_p.L28V			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	28										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAGCTGCTTTCTAGTCAGGCA	0.458000													22	97					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538639	31538639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:31538639G>C	ENST00000286808.3	-	1	332	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	99					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCATGCCACAGATGCCAATAA	0.567000													37	83					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651410	207651410	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:207651410G>T	ENST00000367057.3	+	16	3272	c.3083G>T	c.(3082-3084)aGa>aTa	p.R1028I	CR2_ENST00000367059.3_Missense_Mutation_p.R907I|CR2_ENST00000458541.2_Missense_Mutation_p.R942I|CR2_ENST00000367058.3_Missense_Mutation_p.R969I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	969					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCGGTTTGCAGATCCCGTAAG	0.532000													5	31					0.000157383	0.000159737	1	1	0
SCAPER	49855	broad.mit.edu	37	15	76994204	76994204	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:76994204G>A	ENST00000538941.2	-	20	2604	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	SCAPER_ENST00000563290.1_Silent_p.I801I|SCAPER_ENST00000324767.7_Silent_p.I801I	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	800	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCTCTGAAGAGATCTGAAAGC	0.378000													8	31					0	0	1	0	0
C11orf1	64776	broad.mit.edu	37	11	111754506	111754506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111754506G>A	ENST00000260276.3	+	4	692	c.355G>A	c.(355-357)Gag>Aag	p.E119K	C11orf1_ENST00000528125.1_Missense_Mutation_p.E73K|C11orf1_ENST00000530214.1_Silent_p.E96E|C11orf1_ENST00000529270.1_Missense_Mutation_p.E159K	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	119						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATTTAAGCGAGAGCCTCACTG	0.393000													17	49					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85770096	85770096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:85770096G>A	ENST00000306434.3	+	8	1147	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	MAT2A_ENST00000409017.1_Missense_Mutation_p.E279K	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	342					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGAAGAGTGAGAGAGAGCT	0.403000													15	62					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170606109	170606109	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:170606109G>T	ENST00000392647.2	+	4	1788	c.1544G>T	c.(1543-1545)gGa>gTa	p.G515V	KLHL23_ENST00000272797.4_Missense_Mutation_p.G515V|KLHL23_ENST00000602521.1_Missense_Mutation_p.G22V	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	515										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GTCACTGGAGGATACTCCTAC	0.448000													23	76					7.87624e-14	8.2967e-14	1	1	0
VPS35	55737	broad.mit.edu	37	16	46694412	46694412	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:46694412C>T	ENST00000299138.7	-	17	2421	c.2363G>A	c.(2362-2364)gGg>gAg	p.G788E		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	788					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAAATTGGCCCCTCGGATTC	0.438000													20	84					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600299	48600299	+	Splice_Site	SNP	G	G	A	rs56367701		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48600299G>A	ENST00000323776.5	+	11	1548		c.e11-1		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTCCTTCCAGAGGCAGGTTG	0.502000													23	72					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179291249	179291249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179291249G>C	ENST00000429709.2	+	4	583	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ACTL6A_ENST00000392662.1_Missense_Mutation_p.E82Q|ACTL6A_ENST00000450518.2_Missense_Mutation_p.E82Q	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	124					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCTCATGTCAGAGGCACCGGT	0.338000													19	42					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293511	94293511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:94293511C>T	ENST00000482108.1	+	2	1122	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	PEG10_ENST00000488574.1_Nonsense_Mutation_p.Q215*	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	215	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CGACCACATTCAGGAGGAGCT	0.582000													38	131					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32671825	32671825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32671825G>A	ENST00000537469.1	+	2	400	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.R38Q	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	38										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGATTGTACGAGAGGTCGAG	0.612000													35	108					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379873	67379873	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:67379873G>A	ENST00000322776.6	+	10	1492	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	NDUFV1_ENST00000415352.2_Missense_Mutation_p.E440K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E438K|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E346K	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	447					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GCCGGAGCTCGAGGAGCGGAT	0.632000													12	47					0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48884791	48884791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48884791G>A	ENST00000265563.8	-	1	488	c.239C>T	c.(238-240)tCg>tTg	p.S80L	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.S80L|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.S80L	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	80	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GTCCTCCTCCGACTCGCTGTC	0.716000													14	27					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78177018	78177018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:78177018C>T	ENST00000281038.5	-	11	1443	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	NARS2_ENST00000528850.1_Silent_p.V129V	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	356					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CACAGTGCTTCACCAGGTACT	0.418000													19	47					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543735	55543735	+	Missense_Mutation	SNP	G	G	C	rs28385643		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:55543735G>C	ENST00000310373.3	-	3	124	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	GP6_ENST00000417454.1_Missense_Mutation_p.L33V|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.L33V	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	33	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCTGGGCAGAGCCTGGAGG	0.716000													13	22					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154181594	154181594	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:154181594C>G	ENST00000336314.4	+	11	1537	c.1513C>G	c.(1513-1515)Ctg>Gtg	p.L505V		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	582							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTTCCCACCTGACCTCTCT	0.498000													16	62					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13869691	13869691	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13869691G>T	ENST00000586600.1	+	8	770	c.267G>T	c.(265-267)atG>atT	p.M89I	CCDC130_ENST00000221554.8_Missense_Mutation_p.M89I			P13994	CC130_HUMAN	coiled-coil domain containing 130	89					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGTTCCGGATGAAATGCCACC	0.632000													6	25					1.26484e-09	1.3217e-09	1	1	0
CA4	762	broad.mit.edu	37	17	58234821	58234821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58234821C>T	ENST00000300900.4	+	4	401	c.302C>T	c.(301-303)tCt>tTt	p.S101F		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	101					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCAGCATTTCTGGAGGAGGA	0.587000													22	89					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298857	37298857	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:37298857G>A	ENST00000310758.4	-	6	989	c.342C>T	c.(340-342)gtC>gtT	p.V114V	ELMO1_ENST00000442504.1_Silent_p.V114V|ELMO1_ENST00000448602.1_Silent_p.V114V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	114					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCAAACGTGACATCCCGGG	0.547000													11	40					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154506	33154506	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33154506C>T	ENST00000341947.2	-	5	923	c.696G>A	c.(694-696)caG>caA	p.Q232Q	COL11A2_ENST00000374708.4_Silent_p.Q232Q|COL11A2_ENST00000395194.1_Silent_p.Q232Q|COL11A2_ENST00000357486.1_Silent_p.Q232Q|COL11A2_ENST00000374712.1_Silent_p.Q232Q|COL11A2_ENST00000374714.1_Silent_p.Q232Q|COL11A2_ENST00000374713.1_Silent_p.Q232Q|COL11A2_ENST00000361917.1_Silent_p.Q232Q|COL11A2_ENST00000395197.1_Silent_p.Q232Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	232	Nonhelical region.				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						GTCTTTCCCTCTGGCCCCCCT	0.562000													36	122					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46294229	46294229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46294229G>C	ENST00000270223.6	-	2	603	c.558C>G	c.(556-558)ttC>ttG	p.F186L	DMWD_ENST00000377735.3_Missense_Mutation_p.F186L|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	186					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GACCCGCTGAGAAGCCCACCA	0.562000													40	108					0	0	1	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88926377	88926377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88926377C>G	ENST00000565504.1	+	4	395	c.371C>G	c.(370-372)tCc>tGc	p.S124C	TRAPPC2L_ENST00000564365.1_Missense_Mutation_p.S43C|TRAPPC2L_ENST00000567895.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000561840.1_Missense_Mutation_p.S114C			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	124					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGCATCCAGTCCAGGTGGGCC	0.502000													36	79					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502408	220502408	+	Missense_Mutation	SNP	G	G	A	rs140581019	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220502408G>A	ENST00000358055.3	+	17	3153	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.E908K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E908K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E881K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E881K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	881	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647000													23	77					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	48					2.56e-06	2.63452e-06	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32170230	32170230	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:32170230C>T	ENST00000375023.3	-	21	3516	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1126	EGF-like 28.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGTGGGGTCAGGCAGTCAG	0.642000													5	32					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514904	75514904	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75514904C>T	ENST00000355774.2	-	2	1670	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	MLH3_ENST00000238662.7_Silent_p.E485E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Silent_p.E485E|MLH3_ENST00000556257.1_Silent_p.E485E	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	485					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTTTATGTTTCTCATTTTCTC	0.363000								Mismatch excision repair (MMR)					28	78					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679155	150679155	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150679155C>G	ENST00000368993.2	-	10	783	c.678G>C	c.(676-678)gtG>gtC	p.V226V	HORMAD1_ENST00000322343.7_Silent_p.V219V|HORMAD1_ENST00000361824.2_Silent_p.V226V|HORMAD1_ENST00000368995.4_Silent_p.V146V			Q86X24	HORM1_HUMAN	HORMA domain containing 1	226	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAGTGGTCACTTTTACTT	0.348000													19	82					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399402	46399402	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:46399402C>T	ENST00000292301.4	+	2	869	c.384C>T	c.(382-384)atC>atT	p.I128I	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.I128I|CCR2_ENST00000400888.2_Silent_p.I128I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	128					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTGGCGGAATCTTCTTCATCA	0.468000													76	274					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150738289	150738289	+	Silent	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150738289C>A	ENST00000358849.4	+	13	1680	c.1587C>A	c.(1585-1587)ctC>ctA	p.L529L	ABCB8_ENST00000498578.1_Silent_p.L529L|ABCB8_ENST00000542328.1_Silent_p.L441L|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Silent_p.L546L	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	546	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTGGCTCCGGGGCCAGG	0.697000													13	71					4.3838e-07	4.53616e-07	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126036882	126036882	+	Missense_Mutation	SNP	C	C	T	rs35499702		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:126036882C>T	ENST00000318410.7	-	29	3806	c.3457G>A	c.(3457-3459)Gat>Aat	p.D1153N	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D1005N	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1153					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGAACTCATCAAAAATGAAA	0.318000													10	39					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206904055	206904055	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:206904055G>A	ENST00000367103.3	+	6	907	c.714G>A	c.(712-714)gaG>gaA	p.E238E	MAPKAPK2_ENST00000294981.4_Silent_p.E238E	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	238	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TGGGTCCAGAGAAGTATGACA	0.572000													30	80					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211476905	211476905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:211476905C>G	ENST00000233072.5	+	20	2652	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C	CPS1_ENST00000430249.2_Missense_Mutation_p.S825C|CPS1_ENST00000451903.2_Missense_Mutation_p.S368C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	819					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGCCACCCATCTATAGAAGGT	0.413000													34	89					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94936565	94936565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94936565C>T	ENST00000380009.4	+	7	1316	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	371						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGCTGGAATTCCTCTGCCTCA	0.333000													20	69					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596470	41596470	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:41596470G>T	ENST00000330436.3	+	4	654		c.e4+1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CACGGGGCAGGTAACTGGCTG	0.597000													15	103					2.23348e-06	2.29989e-06	1	1	0
SUSD4	55061	broad.mit.edu	37	1	223536710	223536710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:223536710G>A	ENST00000343846.3	-	1	691	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q20*			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	20						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTtgctgctgctgctgctgc	0.572000													4	17					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117142914	117142914	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117142914C>T	ENST00000369486.3	-	7	2443	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	IGSF3_ENST00000369483.1_Missense_Mutation_p.D580N|IGSF3_ENST00000318837.6_Missense_Mutation_p.D580N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	560	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCAAAGGAGTCGCTGTAGGTC	0.587000													16	38					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:36614675C>G	ENST00000311485.3	-	2	1205	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	348					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383000									Familial Hemophagocytic Lymphohistiocytosis				32	93					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370600	126370600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:126370600C>G	ENST00000394329.3	+	9	8442	c.8429C>G	c.(8428-8430)tCt>tGt	p.S2810C	FAT4_ENST00000335110.5_Missense_Mutation_p.S1108C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2810	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTAGATATTCTATAATGGAT	0.388000													18	63					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037875	105037875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:105037875G>A	ENST00000369849.4	+	1	956	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	303	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCAGCACCGAGGCCATCCG	0.657000													17	48					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190105989	190105989	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:190105989G>A	ENST00000264734.2	+	1	329	c.81G>A	c.(79-81)gtG>gtA	p.V27V	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.V27V	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	27					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGCAGGGCGTGAGAAAAAGTA	0.502000													7	47					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27544708	27544708	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:27544708C>T	ENST00000356183.4	-	5	768	c.753G>A	c.(751-753)agG>agA	p.R251R	GTF3C1_ENST00000561623.1_Splice_Site_p.R251R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	251						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						ATTTGCTCCTCCTGCAAGAAA	0.448000													21	57					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146077090	146077090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:146077090C>T	ENST00000454497.2	-	8	630	c.493G>A	c.(493-495)Gag>Aag	p.E165K	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.E230K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	230							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AAAAATACCTCATTGCCTGAC	0.308000													7	33					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53352146	53352146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:53352146G>A	ENST00000566029.1	+	37	7768	c.7559G>A	c.(7558-7560)aGa>aAa	p.R2520K	CHD9_ENST00000447540.1_Missense_Mutation_p.R2521K|CHD9_ENST00000564845.1_Missense_Mutation_p.R2520K|CHD9_ENST00000398510.3_Missense_Mutation_p.R2536K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2536					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATGAGGGAAGACCCAAACAA	0.338000													3	22					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104113	5104113	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104113G>C	ENST00000396912.1	+	5	1545	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E342D	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	342					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATTCAGGAGAGAAACCCTACG	0.443000													40	104					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415178	105415178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105415178G>A	ENST00000333244.5	-	7	6729	c.6610C>T	c.(6610-6612)Cag>Tag	p.Q2204*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2204						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)			GAAAGGGGCTGAATGCTGAGG	0.642000													81	149					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486125	36486125	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486125C>T	ENST00000342292.4	-	11	3347	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1109						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCGGGACTCTCCTCCACAC	0.652000													20	63					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84883009	84883009	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84883009C>T	ENST00000262424.5	+	4	602	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.F126F|CRISPLD2_ENST00000567845.1_Silent_p.F126F	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	126						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTCCGGGGTTCCATGTGCAGT	0.637000													13	59					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75715054	75715054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:75715054C>G	ENST00000394947.3	-	3	614	c.300G>C	c.(298-300)caG>caC	p.Q100H	SIN3A_ENST00000394949.4_Missense_Mutation_p.Q100H|SIN3A_ENST00000567289.1_Missense_Mutation_p.Q100H|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q100H	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	100					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGCATGACTCTGGACCACCT	0.562000													60	117					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37717293	37717293	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37717293C>T	ENST00000400485.1	+	8	1045	c.969C>T	c.(967-969)ctC>ctT	p.L323L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	323					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAATAGACTCATCAAAGCTT	0.279000													9	26					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681477	70681477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:70681477G>A	ENST00000377844.4	-	1	1114	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	119					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGTAGAAGAGAGTCCTGGCT	0.592000													29	75					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576660	67576660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:67576660C>T	ENST00000310421.4	-	1	2792	c.2534G>A	c.(2533-2535)aGa>aAa	p.R845K		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	845					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TATTGTAATTCTGTCGCCATG	0.428000													20	61					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534235	16534235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:16534235C>T	ENST00000270747.3	-	4	868	c.732G>A	c.(730-732)atG>atA	p.M244I		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	244					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCCCGCTCATCTCTACAC	0.672000													21	77					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1640893	1640893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1640893G>A	ENST00000409644.1	+	10	5740	c.5740G>A	c.(5740-5742)Ggc>Agc	p.G1914S	WDR81_ENST00000446363.1_Missense_Mutation_p.G553S|WDR81_ENST00000309182.5_Missense_Mutation_p.G863S|WDR81_ENST00000545662.1_Missense_Mutation_p.G545S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.G687S|WDR81_ENST00000437219.2_Missense_Mutation_p.G711S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	687										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAACTTCCGCGGCACGCTCAC	0.632000													23	64					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400090	89400090	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89400090G>C	ENST00000439576.2	+	12	4648	c.4274G>C	c.(4273-4275)gGa>gCa	p.G1425A	ACAN_ENST00000561243.1_Missense_Mutation_p.G1425A|ACAN_ENST00000559004.1_Missense_Mutation_p.G1425A|ACAN_ENST00000352105.7_Missense_Mutation_p.G1425A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1425					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACTGCCCCTGGAGTAGATGAG	0.532000													73	202					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36718556	36718556	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:36718556T>C	ENST00000216181.5	-	6	853	c.623A>G	c.(622-624)gAg>gGg	p.E208G		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	208	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCTGCCGCTCCAGCTCGCC	0.687000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				37	59					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34133456	34133456	+	Missense_Mutation	SNP	C	C	G	rs79555426	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:34133456C>G	ENST00000331923.4	-	5	1078	c.889G>C	c.(889-891)Gat>Cat	p.D297H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D297H|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		AAAGCATCATCATCACTCCCC	0.423000													60	194					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042364	59042364	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59042364G>A	ENST00000371225.2	-	1	802	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	155					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					GCAGGTCAATGAGGATGTGGT	0.692000													7	22					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631753	126631753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:126631753C>T	ENST00000359653.4	+	1	1062	c.691C>T	c.(691-693)Cag>Tag	p.Q231*		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	231					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AATGGATTTTCAGAGGATTGA	0.433000													22	54					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224703	2224703	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:2224703C>G	ENST00000399655.1	+	2	628	c.363C>G	c.(361-363)gtC>gtG	p.V121V	CACNA1C_ENST00000327702.7_Silent_p.V121V|CACNA1C_ENST00000399595.1_Silent_p.V121V|CACNA1C_ENST00000399617.1_Silent_p.V121V|CACNA1C_ENST00000399629.1_Silent_p.V121V|CACNA1C_ENST00000399634.1_Silent_p.V121V|CACNA1C_ENST00000335762.5_Silent_p.V121V|CACNA1C_ENST00000399591.1_Silent_p.V121V|CACNA1C_ENST00000399638.1_Silent_p.V121V|CACNA1C_ENST00000399606.1_Silent_p.V121V|CACNA1C_ENST00000399641.1_Silent_p.V121V|CACNA1C_ENST00000406454.3_Silent_p.V121V|CACNA1C_ENST00000399597.1_Silent_p.V121V|CACNA1C_ENST00000399621.1_Silent_p.V121V|CACNA1C_ENST00000399649.1_Silent_p.V121V|CACNA1C_ENST00000399637.1_Silent_p.V121V|CACNA1C_ENST00000344100.3_Silent_p.V121V|CACNA1C_ENST00000399644.1_Silent_p.V121V|CACNA1C_ENST00000480911.1_Silent_p.V121V|CACNA1C_ENST00000399601.1_Silent_p.V121V|CACNA1C_ENST00000347598.4_Silent_p.V121V|CACNA1C_ENST00000402845.3_Silent_p.V121V|CACNA1C_ENST00000399603.1_Silent_p.V121V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	121					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAGCATTGTCGAATGGAAAT	0.647000													20	77					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128253659	128253659	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:128253659C>T	ENST00000295321.4	-	7	1890	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	544					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCGGTTCCGTCTGCGCTTGCC	0.468000													78	249					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93118581	93118581	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:93118581C>G	ENST00000298050.3	+	8	907	c.807C>G	c.(805-807)ctC>ctG	p.L269L	CCDC67_ENST00000525646.1_Silent_p.L11L	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	269										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAGCAGGTCTCTCAGAGGTAA	0.313000													8	36					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094738	72094738	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72094738G>A	ENST00000357763.4	+	8	1305	c.1278G>A	c.(1276-1278)gtG>gtA	p.V426V	HP_ENST00000570083.1_Silent_p.V331V|HP_ENST00000565574.1_Silent_p.V331V|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Silent_p.V331V|HP_ENST00000355906.5_Silent_p.V390V			P00738	HPT_HUMAN	haptoglobin	0					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGTGTATGTGAAGGTGACTT	0.522000													37	131					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52582190	52582190	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52582190C>T	ENST00000356770.4	-	28	4700	c.4698G>A	c.(4696-4698)ctG>ctA	p.L1566L	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Silent_p.L1546L|PBRM1_ENST00000296302.7_Silent_p.L1653L|PBRM1_ENST00000337303.4_Silent_p.L1546L|PBRM1_ENST00000409767.1_Silent_p.L1561L|PBRM1_ENST00000409057.1_Silent_p.L1598L|PBRM1_ENST00000409114.3_Silent_p.L1616L|PBRM1_ENST00000410007.1_Silent_p.L1573L			Q86U86	PB1_HUMAN	polybromo 1	1653	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTGCTTTTCAGCCAGTGAG	0.507000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								46	121					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109865577	109865577	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:109865577G>C	ENST00000256637.6	-	15	2059	c.2001C>G	c.(1999-2001)ctC>ctG	p.L667L	SORT1_ENST00000538502.1_Silent_p.L530L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	667	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAGGGAACAGAGGCAGATGG	0.488000													11	43					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540327	56540327	+	Missense_Mutation	SNP	G	G	C	rs145817491		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:56540327G>C	ENST00000323777.3	-	4	1467	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	453						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S453F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGGTAGAGAGCAGGCAAC	0.483000													29	96					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44388630	44388630	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44388630G>C	ENST00000264664.4	-	1	269	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	52	Poly-Ser.				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GGAGGAAGAAGAGTTGGTGGC	0.547000													28	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640629	179640629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:179640629C>T	ENST00000589042.1	-	28	6186	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	TTN_ENST00000360870.5_Missense_Mutation_p.E1988K|TTN_ENST00000342992.6_Missense_Mutation_p.E1988K|TTN_ENST00000591111.1_Missense_Mutation_p.E1988K|TTN_ENST00000460472.2_Missense_Mutation_p.E1942K|TTN_ENST00000342175.6_Missense_Mutation_p.E1942K|TTN_ENST00000359218.5_Missense_Mutation_p.E1942K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1741							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)			GGCACTTTTTCATGGGTAATT	0.443000													41	149					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230314024	230314024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:230314024G>C	ENST00000366672.4	+	2	259	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	GALNT2_ENST00000543760.1_Missense_Mutation_p.E25Q|GALNT2_ENST00000541865.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	63					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAATGGAGAAGAGAAAGCACA	0.493000													9	53					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117838737	117838737	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:117838737G>A	ENST00000350763.4	-	8	3203	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F	TNC_ENST00000340094.3_Missense_Mutation_p.S931F|TNC_ENST00000535648.1_Missense_Mutation_p.S931F|TNC_ENST00000542877.1_Missense_Mutation_p.S931F|TNC_ENST00000423613.2_Missense_Mutation_p.S931F|TNC_ENST00000345230.3_Missense_Mutation_p.S931F|TNC_ENST00000537320.1_Missense_Mutation_p.S931F|TNC_ENST00000341037.4_Missense_Mutation_p.S931F|TNC_ENST00000346706.3_Missense_Mutation_p.S931F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	931	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCCCCTCCAGAGATGGGGGC	0.507000													64	168					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800901	105800901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:105800901G>A	ENST00000369110.3	-	7	961	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	257					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGTTTACTGGATCACATCCT	0.378000													35	124					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5002362	5002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:5002362C>T	ENST00000380051.2	-	2	285	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RPP40_ENST00000464646.1_Missense_Mutation_p.E21K|RPP40_ENST00000319533.5_Missense_Mutation_p.E81K	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	81					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGATGAATTCAGGTGTAATT	0.403000													21	103					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19376564	19376564	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19376564C>G	ENST00000380394.4	-	5	640	c.582G>C	c.(580-582)ctG>ctC	p.L194L	RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Silent_p.L163L|RPS6_ENST00000315377.4_Silent_p.L163L	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	194					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCTGCTTCTTCAGAGCAATAC	0.448000													26	105					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26217568G>C	ENST00000303910.2	+	1	404	c.366G>C	c.(364-366)gaG>gaC	p.E122D		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542000													19	59					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175772332	175772332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:175772332G>T	ENST00000443967.1	+	12	2910	c.2503G>T	c.(2503-2505)Gag>Tag	p.E835*	SIMC1_ENST00000332772.4_Nonsense_Mutation_p.E296*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.E420*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.E420*					SUMO-interacting motifs containing 1																		GATGCTGGGGGAGCCTCTTGT	0.537000													26	56					5.45024e-15	5.75906e-15	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:31087769G>A	ENST00000394979.2	+	1	547	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZNF646_ENST00000300850.5_Missense_Mutation_p.D42N			O15015	ZN646_HUMAN	zinc finger protein 646	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGAGGAGGCTGACAGCATCCC	0.632000													48	117					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272716	102272716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:102272716G>C	ENST00000398136.2	-	3	799	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	TMEM123_ENST00000361236.3_Missense_Mutation_p.Q108E|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Missense_Mutation_p.Q39E	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	127	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity	p.Q127E(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GTTGATATCTGAGATGTGTTC	0.388000													39	100					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108380728	108380728	+	Missense_Mutation	SNP	C	C	T	rs139764708		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108380728C>T	ENST00000361582.3	+	20	2434	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	DZIP3_ENST00000463306.1_Missense_Mutation_p.S735L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	735					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAATAGGGCTCAGCTGGCAAA	0.358000													10	21					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108598	151108598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151108598G>A	ENST00000341697.3	-	13	2839	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	383	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGAAGAGGAGAACAAGGC	0.592000													11	77					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786586	19786586	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19786586C>G	ENST00000341998.2	-	1	340	c.279G>C	c.(277-279)aaG>aaC	p.K93N	SLC24A2_ENST00000286344.3_Missense_Mutation_p.K93N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	93					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCCAGAATCTTGTCATTTA	0.473000													18	86					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37777576	37777576	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:37777576G>A	ENST00000327441.7	+	10	1146	c.680G>A	c.(679-681)aGa>aAa	p.R227K	MIPOL1_ENST00000556451.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R46K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R227K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R227K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R196K	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	227										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)		TTACTGAACAGAATAAACAAT	0.308000													20	50					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897398	36897398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36897398C>G	ENST00000301807.6	-	12	3930	c.2033G>C	c.(2032-2034)aGa>aCa	p.R678T	TRANK1_ENST00000429976.2_Missense_Mutation_p.R1228T|TRANK1_ENST00000428977.2_Missense_Mutation_p.R678T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1228					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TATGATGGTTCTTTTCAAGCT	0.468000													52	101					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103372196	103372196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:103372196G>A	ENST00000331272.7	-	7	1493	c.875C>T	c.(874-876)cCa>cTa	p.P292L	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	292					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CCCAGCCCCTGGGGGAAAGTC	0.582000													33	127					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948211	133948211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:133948211C>T	ENST00000361069.4	+	19	3539	c.3406C>T	c.(3406-3408)Ctc>Ttc	p.L1136F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1136	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCTGCCATTCTCGCGTCTCT	0.627000													5	18					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123476050	123476050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:123476050G>C	ENST00000373930.3	-	1	698	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MEGF9_ENST00000426959.1_Missense_Mutation_p.S188C	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	196	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AGGAGGCGAAGAGGGGGCCTC	0.682000													6	23					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032749	55032749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:55032749C>T	ENST00000417545.2	+	2	504	c.418C>T	c.(418-420)Cac>Tac	p.H140Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	124						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCACCGGTATCACAGACACTG	0.507000													25	34					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91372534	91372534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:91372534G>A	ENST00000261991.3	-	8	1089	c.916C>T	c.(916-918)Cca>Tca	p.P306S	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P306S|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P227S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	306	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCATCACGTGGACCACATCCC	0.408000													12	69					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49164698	49164698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49164698G>A	ENST00000307885.4	-	19	3801	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	ADCY6_ENST00000357869.3_Missense_Mutation_p.T983I|ADCY6_ENST00000550422.1_Missense_Mutation_p.T983I	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1036					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCCATGTAGGTGCTACCAAT	0.582000													30	74					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526076	66526076	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66526076C>G	ENST00000589228.1	+	10	1035	c.907C>G	c.(907-909)Cta>Gta	p.L303V	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.L303V	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	303					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AGCTGCTGTGCTACAACGTCG	0.393000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				34	103					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100856159	100856159	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100856159G>A	ENST00000223127.3	-	8	1241	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	281					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGGTTGCAGAAGCCACAGC	0.647000													19	43					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811578	140811578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:140811578C>G	ENST00000509479.2	-	2	1868	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	MAML3_ENST00000327122.5_Missense_Mutation_p.E182Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	338					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AATTCTGGCTCCTTCTTCTCT	0.512000													18	56					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183823613	183823613	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:183823613C>G	ENST00000415389.2	+	7	1247	c.781C>G	c.(781-783)Ctg>Gtg	p.L261V	HTR3E_ENST00000335304.2_Missense_Mutation_p.L276V|HTR3E_ENST00000440596.2_Missense_Mutation_p.L287V|HTR3E_ENST00000436361.2_Missense_Mutation_p.L261V|HTR3E_ENST00000425359.2_Missense_Mutation_p.L246V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	261						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCTTTCTGGTTGCCAT	0.547000													29	113					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923523	28923523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28923523G>C	ENST00000257192.4	+	12	2010	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	600					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGCAGTAGAAGGACCACA	0.483000													23	75					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37130859	37130859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37130859C>G	ENST00000588268.1	-	6	615	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	ZNF461_ENST00000360357.4_Missense_Mutation_p.E107Q|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTTAAATTCTTCCATGTTA	0.403000													48	108					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243433447	243433447	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243433447G>A	ENST00000366541.3	+	2	226	c.108G>A	c.(106-108)ctG>ctA	p.L36L	SDCCAG8_ENST00000391846.1_Silent_p.L36L|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Silent_p.L36L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	36					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CATGTGCCCTGAAAGAAGGCG	0.493000													8	35					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111425410	111425410	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:111425410C>G	ENST00000535254.1	-	6	591	c.524G>C	c.(523-525)gGa>gCa	p.G175A	BUB1_ENST00000302759.6_Missense_Mutation_p.G195A|BUB1_ENST00000409311.1_Missense_Mutation_p.G195A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	195	BUB1 N-terminal.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGATATCACTCCAGAAAGCTC	0.323000													14	72					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103017300	103017300	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:103017300C>G	ENST00000306312.3	-	19	2257	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E668Q|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.E99Q|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E636Q|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E634Q|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E629Q|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E634Q|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E666Q	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	666	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCCATATTCTTTTACAATC	0.328000													5	34					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38282030	38282030	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:38282030C>G	ENST00000447712.2	-	7	1874	c.933G>C	c.(931-933)ttG>ttC	p.L311F	FGFR1_ENST00000326324.6_Missense_Mutation_p.L220F|FGFR1_ENST00000356207.5_Missense_Mutation_p.L222F|FGFR1_ENST00000397091.5_Missense_Mutation_p.L309F|FGFR1_ENST00000341462.5_Missense_Mutation_p.L312F|FGFR1_ENST00000397108.4_Missense_Mutation_p.L309F|FGFR1_ENST00000532791.1_Missense_Mutation_p.L311F|FGFR1_ENST00000335922.5_Missense_Mutation_p.L303F|FGFR1_ENST00000397113.2_Missense_Mutation_p.L309F|FGFR1_ENST00000425967.3_Missense_Mutation_p.L342F|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397103.1_Missense_Mutation_p.L220F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	311	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGATTACCTTCAAGATCTGGA	0.567000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						34	73					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18876304	18876304	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18876304C>T	ENST00000338797.6	+	10	1050	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	CRTC1_ENST00000594658.1_Missense_Mutation_p.S285L|CRTC1_ENST00000601916.1_Missense_Mutation_p.S251L|CRTC1_ENST00000321949.8_Missense_Mutation_p.S326L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	326	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAGCAGGCATCGCCCACCCTG	0.662000													37	115					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560286	19560286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19560286G>A	ENST00000397821.3	-	16	1939	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P312L|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P289L|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P513L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	550					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CGGCTTGGGCGGCAGGGATGC	0.632000													31	37					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140625700G>C	ENST00000231173.3	+	1	554	c.554G>C	c.(553-555)cGa>cCa	p.R185P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		185	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R185Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517000													27	62					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567000													19	42					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078795	117078795	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:117078795G>C	ENST00000457047.2	-	3	473	c.420C>G	c.(418-420)gtC>gtG	p.V140V	CD58_ENST00000369487.3_Silent_p.V140V|CD58_ENST00000369489.5_Silent_p.V140V	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	140	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCATGCATTGGACTTCAATGC	0.358000													11	29					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91528126	91528126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:91528126C>T	ENST00000416354.1	+	30	5231	c.5159C>T	c.(5158-5160)tCt>tTt	p.S1720F	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1650F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1690F			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1690	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATAGAAATTCTTCTGTCAAA	0.294000													15	30					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156562250	156562250	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562250C>G	ENST00000368235.3	+	3	428	c.385C>G	c.(385-387)Cga>Gga	p.R129G	APOA1BP_ENST00000368234.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000368233.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	129	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTGTGCTCGACACCTCAA	0.587000													30	126					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766975	124766975	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:124766975C>G	ENST00000306534.3	-	2	738	c.253G>C	c.(253-255)Gat>Cat	p.D85H	ROBO4_ENST00000533054.1_Intron|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	85	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGGTCCCATCAGGCAGGAGG	0.657000													7	31					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987853	123987853	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:123987853G>A	ENST00000360013.3	+	5	841	c.714G>A	c.(712-714)ctG>ctA	p.L238L	KALRN_ENST00000460856.1_Silent_p.L238L|KALRN_ENST00000240874.3_Silent_p.L238L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	238					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						AAAAGGTGCTGAAGGCCCCTG	0.627000													11	32					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	549890	549890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:549890G>A	ENST00000239830.4	+	11	1328	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	CCDC77_ENST00000422000.1_Missense_Mutation_p.M351I|CCDC77_ENST00000540180.1_Missense_Mutation_p.M351I|CCDC77_ENST00000412006.2_Missense_Mutation_p.M351I	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	383						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAGGGAATGAGGAGAGAGA	0.438000													12	45					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107484	14107484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:14107484C>G	ENST00000235372.7	+	8	4050	c.3194C>G	c.(3193-3195)tCt>tGt	p.S1065C	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S864C|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1065C|PRDM2_ENST00000413440.1_Missense_Mutation_p.S864C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1065	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		tcttcgttttcttcttcatct	0.522000													21	48					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073251	131073251	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:131073251C>T	ENST00000357668.1	-	27	2793	c.2766G>A	c.(2764-2766)caG>caA	p.Q922Q	ASAP1_ENST00000518721.1_Silent_p.Q922Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	922	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGATGATTTCTGAAAGATTT	0.512000													42	145					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:5104735G>C	ENST00000396912.1	+	5	2167	c.1648G>C	c.(1648-1650)Gag>Cag	p.E550Q	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E550Q	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E550K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388000													15	44					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150956496	150956496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:150956496G>C	ENST00000368947.4	+	5	694	c.218G>C	c.(217-219)aGa>aCa	p.R73T	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	73					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCGGAGCAGAGAGCAAAGG	0.587000													4	27					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46596309	46596309	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:46596309G>A	ENST00000539173.1	+	4	1128	c.693G>A	c.(691-693)ccG>ccA	p.P231P	ADARB1_ENST00000348831.4_Silent_p.P231P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Silent_p.P231P|ADARB1_ENST00000389863.4_Silent_p.P231P	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	231	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCCCACCCCCGAGTGGGAAGA	0.597000													21	84					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656911	49656911	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:49656911G>A	ENST00000252825.4	-	1	1770	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	HRC_ENST00000595625.1_Silent_p.L528L	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	528					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTTCAGGCTGAGGCCATGAC	0.577000													8	26					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53558413	53558413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:53558413G>A	ENST00000025008.5	-	16	4359	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S1279F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S1279F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1279					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)				TCCTCTGGTAGAGTCAATGGC	0.308000													16	39					0	0	1	0	0
GSX1	219409	broad.mit.edu	37	13	28367224	28367224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:28367224C>T	ENST00000302945.2	+	1	445	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	133					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAGGCAGTTCCACTGCATCTC	0.697000													6	23					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:83195218G>C	ENST00000398309.2	-	17	2402	c.1932C>G	c.(1930-1932)ttC>ttG	p.F644L	DLG2_ENST00000404783.3_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.F683L|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.F749L|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.F611L|DLG2_ENST00000376104.2_Missense_Mutation_p.F749L|DLG2_ENST00000426717.2_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	644						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393000													20	85					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171806117	171806117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:171806117C>G	ENST00000234160.4	+	3	1028	c.213C>G	c.(211-213)atC>atG	p.I71M	GORASP2_ENST00000452526.2_Missense_Mutation_p.I83M|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	71	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AGATGCTTATCTATAGCAGCA	0.438000													31	93					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86474218	86474218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:86474218C>G	ENST00000297814.2	-	14	3146	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K935N|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K904N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1001					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCTGCACATTCTTTTCAGACA	0.423000													19	79					0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110086268	110086268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:110086268G>C	ENST00000358015.3	+	8	1266	c.915G>C	c.(913-915)caG>caC	p.Q305H	RAD23B_ENST00000416373.2_Missense_Mutation_p.Q233H	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	305	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TACTACAGCAGATAGGTCGAG	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					15	46					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47525165	47525165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:47525165G>A	ENST00000273859.3	+	4	891	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E208K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGTCACATTGAGACTTCTGG	0.458000													13	50					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219114098	219114098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:219114098C>T	ENST00000295685.10	+	8	949	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	ARPC2_ENST00000315717.5_Missense_Mutation_p.R230C|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	230					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GCTGTTCCCTCGTCACACCAA	0.542000													11	31					0	0	1	0	0
RPS13	6207	broad.mit.edu	37	11	17099182	17099182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:17099182G>A	ENST00000525634.1	-	1	152	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	RPS13_ENST00000228140.2_Missense_Mutation_p.R3C|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	3					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GCATGCATGCGACCCATGATG	0.652000													14	50					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166574	140166574	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140166574C>T	ENST00000504120.2	+	1	699	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PCDHA1_ENST00000378133.3_Silent_p.L233L|PCDHA1_ENST00000394633.3_Silent_p.L233L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTCCTCGACGTTAATG	0.473000													27	89					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479590	10479590	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:10479590C>T	ENST00000538557.1	+	12	1531	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	PGD_ENST00000270776.8_Silent_p.L442L|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.L420L			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	442					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CAGCCAGCCTCATCCAGGTAA	0.592000													36	141					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96557463	96557463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:96557463G>A	ENST00000456556.1	-	46	2891	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.S187F|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.S357F					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATTCAAAACAGAATCTTTCTC	0.289000													3	6					0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38799901	38799901	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:38799901C>A	ENST00000392124.3	-	2	586	c.272G>T	c.(271-273)aGa>aTa	p.R91I	YIF1B_ENST00000592694.1_Missense_Mutation_p.R91I|YIF1B_ENST00000337679.8_Missense_Mutation_p.R119I|YIF1B_ENST00000591784.1_Missense_Mutation_p.R91I|YIF1B_ENST00000591755.1_Missense_Mutation_p.R119I|YIF1B_ENST00000339413.6_Missense_Mutation_p.R122I|YIF1B_ENST00000329420.8_Missense_Mutation_p.R107I|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592246.1_Intron	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	122						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCAGCTTTCTGCCCACATA	0.597000													73	246					4.03997e-35	4.31999e-35	1	1	0
IFT172	26160	broad.mit.edu	37	2	27676285	27676285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:27676285C>G	ENST00000260570.3	-	35	4020	c.3917G>C	c.(3916-3918)gGa>gCa	p.G1306A		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1306					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGCTGTTTCCAGAGTCTCG	0.587000													19	89					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049437	23049437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:23049437C>T	ENST00000221132.3	-	10	1241	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	393	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	p.E393K(1)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACATCGATCTCATTTTTCGTG	0.522000													47	51					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618697	37618697	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618697G>C	ENST00000399151.3	+	19	4504	c.4419G>C	c.(4417-4419)caG>caC	p.Q1473H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1473					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGAGTGGCAGAGAGCCCTGA	0.647000													8	33					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175380	168175380	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:168175380C>G	ENST00000519560.1	-	20	2616	c.2197G>C	c.(2197-2199)Gag>Cag	p.E733Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E733Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E733Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	733	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACTGTCTCCATACAGGTG	0.632000													28	94					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:248085113C>G	ENST00000319968.4	+	1	794	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493000													22	64					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990886	990886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:990886C>T	ENST00000190165.2	+	2	1338	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	434					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)		GGAAGACCCTCGGATTTCCAT	0.542000													27	100					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945337	88945337	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:88945337G>C	ENST00000556564.1	-	13	2722	c.2438C>G	c.(2437-2439)tCt>tGt	p.S813C	PTPN21_ENST00000328736.3_Missense_Mutation_p.S813C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	813						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCTTCAGAGAGTCCCTCCG	0.662000													42	110					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907342	164907342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:164907342G>A	ENST00000475390.1	-	2	1720	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S426F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	426						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAAAAATCAGAACGGTATAT	0.388000										HNSCC(40;0.11)			11	38					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118847773	118847773	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:118847773C>T	ENST00000378204.2	-	3	1880	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	358					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGCTGAGCATCACAGGGACGC	0.478000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				15	41					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4674988	4674988	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4674988C>G	ENST00000399577.5	+	1	120	c.27C>G	c.(25-27)atC>atG	p.I9M	MGRN1_ENST00000415496.1_Missense_Mutation_p.I9M|MGRN1_ENST00000588994.1_Missense_Mutation_p.I9M|MGRN1_ENST00000262370.7_Missense_Mutation_p.I9M|MGRN1_ENST00000586183.1_Missense_Mutation_p.I9M	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	9					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCGCCGCATCGCGGGGGTGG	0.736000													3	14					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775830	77775830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:77775830G>A	ENST00000521891.2	+	11	10328	c.9880G>A	c.(9880-9882)Gag>Aag	p.E3294K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3245K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3268K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3249K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3245						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)			CTGTGGCATGGAGAGCCTCTT	0.527000										HNSCC(33;0.089)			17	51					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851923	71851923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:71851923G>A	ENST00000377245.4	+	14	2258	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TJP2_ENST00000453658.2_Missense_Mutation_p.D661N|TJP2_ENST00000535702.1_Missense_Mutation_p.D688N|TJP2_ENST00000265384.7_Missense_Mutation_p.D684N|TJP2_ENST00000348208.4_Missense_Mutation_p.D684N|TJP2_ENST00000539225.1_Missense_Mutation_p.D715N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	684	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGACCGGGCAGATTTCTGGAG	0.512000													41	173					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130355	45130355	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:45130355C>T	ENST00000457685.2	-	6	2832	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	ZNF334_ENST00000347606.4_Silent_p.E541E|ZNF334_ENST00000593880.1_Silent_p.E564E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATATGGTCTCTCCCATATAG	0.448000													40	149					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005143	101005143	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:101005143G>A	ENST00000556751.1	-	5	4157	c.753C>T	c.(751-753)gcC>gcT	p.A251A	BEGAIN_ENST00000443071.2_Silent_p.A315A|BEGAIN_ENST00000355173.2_Silent_p.A315A			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	315						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCAGCGTGCTGGCCTGCGCGT	0.672000													9	17					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119469912	119469912	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:119469912G>A	ENST00000273390.5	+	17	2349	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	MAATS1_ENST00000472117.1_3'UTR	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		CATGTTACTTGAGAAAGAAAC	0.418000													16	62					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46658451	46658451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:46658451C>T	ENST00000181383.4	-	3	194	c.178G>A	c.(178-180)Gac>Aac	p.D60N	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.D60N|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	60					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACAATAAGGTCAGCTGTTACC	0.378000													24	53					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77416817	77416817	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:77416817G>C	ENST00000451710.3	-	16	2243	c.2006C>G	c.(2005-2007)tCa>tGa	p.S669*	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.S669*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.S664*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.S664*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.S669*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	669					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTTACTTTGAGTAATTCTT	0.408000													18	66					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22832611	22832611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22832611G>A	ENST00000404138.1	+	7	1748	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	ZBTB40_ENST00000375647.4_Missense_Mutation_p.E413K|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E301K	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	413					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGAATGACTGAAGAGAAGAC	0.483000													7	51					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788081	80788081	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788081C>G	ENST00000269394.3	-	3	2942	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K304N|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	703						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTCGCCTTCTTAGCTCCTT	0.567000													30	93					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106770206	106770206	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:106770206G>C	ENST00000228347.4	+	7	696	c.474G>C	c.(472-474)ctG>ctC	p.L158L	POLR3B_ENST00000539066.1_Silent_p.L100L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	158					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTGCCAAACTGAACGAATGTC	0.368000													15	59					0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13260331	13260331	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13260331C>G	ENST00000589083.1	-	3	334	c.282G>C	c.(280-282)cgG>cgC	p.R94R	STX10_ENST00000587230.1_Silent_p.R94R|STX10_ENST00000242770.5_Silent_p.R94R|STX10_ENST00000343587.5_Intron	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	94					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCTCGCATCCGCTCCACGA	0.517000													32	91					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436660	120436660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:120436660C>T	ENST00000369400.1	-	1	2458	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	767	5 X 9 AA approximate repeats.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTCTTCCTGTCCAGTTTTTGC	0.358000													54	190					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044269	94044269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:94044269C>T	ENST00000553484.1	+	18	2447	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	UNC79_ENST00000256339.4_Missense_Mutation_p.R588W|UNC79_ENST00000555664.1_Missense_Mutation_p.R765W|UNC79_ENST00000393151.2_Missense_Mutation_p.R765W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	765						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTCCGTTTCGGAGTCCTTT	0.448000													37	168					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68217796	68217796	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:68217796G>C	ENST00000347230.4	-	41	7527	c.7389C>G	c.(7387-7389)atC>atG	p.I2463M	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.I309M	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2463					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATTGCCTGGATCAGGCCCT	0.552000													24	60					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12885536	12885536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12885536C>T	ENST00000264827.5	-	3	321	c.151G>A	c.(151-153)Gag>Aag	p.E51K	HOOK2_ENST00000397668.3_Missense_Mutation_p.E51K|HOOK2_ENST00000589965.1_5'UTR	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	51	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCCATGCCTCGTTGAACCAG	0.567000													14	39					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212274365	212274365	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212274365G>A	ENST00000366991.4	+	14	2347	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	DTL_ENST00000542077.1_Missense_Mutation_p.R636Q|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	678					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCATCTCCACGAAGTCCGTCA	0.488000													13	53					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091378	147091378	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091378C>T	ENST00000234739.3	+	8	2157	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	473	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATAGCGTGGCTGAAACTGCA	0.517000			T	"""IGH@, IGL@"""	B-ALL								34	84					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154956263	154956263	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:154956263C>G	ENST00000368433.1	+	1	436	c.93C>G	c.(91-93)ctC>ctG	p.L31L	FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000292180.3_Silent_p.L31L|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368432.1_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	31					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.L31L(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTCTTCCTCGAAGGAAGCA	0.552000													36	101					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117244524	117244524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117244524G>A	ENST00000278935.3	+	10	1357	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	404					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CATAGCTTCTGACCCCAAGTC	0.498000													24	54					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2056767	2056767	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:2056767G>C	ENST00000382203.1	+	7	1478	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L	SMARCA2_ENST00000357248.2_Silent_p.L423L|SMARCA2_ENST00000382194.1_Silent_p.L423L|SMARCA2_ENST00000349721.2_Silent_p.L423L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	423					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)		GCCAGACTCTGAGAGAAGCTC	0.572000													15	29					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143143	232143143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:232143143C>A	ENST00000349938.4	+	16	1717	c.1523C>A	c.(1522-1524)tCg>tAg	p.S508*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	508							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AAAGTCCTTTCGGATCTTCTT	0.527000													40	106					2.95478e-19	3.1398e-19	1	1	0
DCUN1D1	54165	broad.mit.edu	37	3	182683333	182683333	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:182683333C>G	ENST00000292782.4	-	2	365	c.212G>C	c.(211-213)aGa>aCa	p.R71T	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.R56T	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	71	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACCTTTGTATCTATTGTACAG	0.328000													5	11					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50374939	50374939	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50374939C>G	ENST00000374148.1	-	3	267	c.213G>C	c.(211-213)ctG>ctC	p.L71L	C10orf128_ENST00000374151.3_Silent_p.L71L|C10orf128_ENST00000374153.2_Silent_p.L71L|C10orf128_ENST00000474718.1_Silent_p.L71L|C10orf128_ENST00000470884.1_5'UTR			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	71						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						GCGTGCTTTTCAGGTCGGAAG	0.612000													28	80					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706018	77706018	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77706018C>T	ENST00000298351.4	+	12	1023	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	293						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGATCAGGATCCACCCCTGTG	0.612000													13	33					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678589	37678589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:37678589C>G	ENST00000379800.3	-	1	1214	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	269	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E269K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGGACTTCCTCAAAGCGCAGC	0.443000													38	112					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89131686	89131686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:89131686G>A	ENST00000554922.1	-	22	3520	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L	EML5_ENST00000352093.5_Missense_Mutation_p.S1053L|EML5_ENST00000380664.5_Missense_Mutation_p.S1091L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1091						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTACCAGGTGAAAATCGAAT	0.333000													6	18					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853555	122853555	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:122853555C>T	ENST00000264811.5	-	1	1057	c.639G>A	c.(637-639)tcG>tcA	p.S213S	TRPC3_ENST00000379645.3_Silent_p.S286S|TRPC3_ENST00000513531.1_Silent_p.S213S	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	201					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTGATCCTCGAGCGTGAGT	0.612000													13	55					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580452	53580452	+	Missense_Mutation	SNP	C	C	G	rs149844615	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53580452C>G	ENST00000371494.4	-	3	536	c.409G>C	c.(409-411)Gat>Cat	p.D137H	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.D137H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	137						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AACAGGGCATCGGCTGAGCTC	0.642000													14	42					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689307	49689307	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49689307C>T	ENST00000257860.4	+	1	1823	c.324C>T	c.(322-324)ttC>ttT	p.F108F	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	108	Coil 1A.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						ACGACCGCTTCGCCAACTTCA	0.682000													8	13					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262519	140262519	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140262519G>A	ENST00000289272.2	+	1	666	c.666G>A	c.(664-666)ctG>ctA	p.L222L	PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L222L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCGAGCTGACTGGCACAG	0.453000													18	70					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158843	77158843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:77158843C>T	ENST00000372524.4	-	2	2091	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.L535L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					AGTGGCTCAGCAGCTCTTCGG	0.652000													17	53					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215615	84215615	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:84215615C>T	ENST00000567759.1	-	8	953	c.771G>A	c.(769-771)ggG>ggA	p.G257G	TAF1C_ENST00000566732.1_Silent_p.G257G|TAF1C_ENST00000378541.4_Silent_p.G257G|TAF1C_ENST00000341690.6_Silent_p.G190G|TAF1C_ENST00000541676.1_Silent_p.G190G|TAF1C_ENST00000570117.1_5'UTR	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	257					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTCCAGGTTTCCCAAGGAATT	0.547000													39	119					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74203900	74203900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203900C>T	ENST00000286523.5	-	3	2332	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R517Q	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		ACTGTCTTCTCGTGCTCGCTT	0.552000													15	52					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203847053	203847053	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:203847053G>C	ENST00000402905.3	+	15	2269	c.1948G>C	c.(1948-1950)Gaa>Caa	p.E650Q	CARF_ENST00000428585.1_Missense_Mutation_p.E574Q|CARF_ENST00000414439.1_Missense_Mutation_p.E548Q|CARF_ENST00000438828.2_Missense_Mutation_p.E650Q|CARF_ENST00000320443.8_Missense_Mutation_p.E650Q|CARF_ENST00000545253.1_Missense_Mutation_p.E562Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E574Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CGAGCTGGTAGAAGTTGGAGA	0.428000													10	42					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361525	112361525	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:112361525G>A	ENST00000361804.4	+	24	2901	c.2775G>A	c.(2773-2775)atG>atA	p.M925I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	925					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAAAAGATGACAAATCGGC	0.378000													24	60					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218674590	218674590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:218674590G>C	ENST00000171887.4	-	30	5369	c.4917C>G	c.(4915-4917)ttC>ttG	p.F1639L	TNS1_ENST00000430930.1_Missense_Mutation_p.F1618L|TNS1_ENST00000419504.1_Missense_Mutation_p.F1625L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1639						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGAGACTTTGAAGTGAACGA	0.552000													13	43					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100417166	100417166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:100417166C>T	ENST00000375147.3	+	12	1431	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	392					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCACAGCTTGCACAGGCAACT	0.358000													11	38					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70411792	70411792	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:70411792G>A	ENST00000370577.3	-	10	1198	c.969C>T	c.(967-969)ctC>ctT	p.L323L	LMBRD1_ENST00000370570.1_Silent_p.L250L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	323					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TTGACAAGAAGAGAGAAATTA	0.289000													9	26					0	0	1	0	0
MIR1302-3	100302128	broad.mit.edu	37	2	114340656	114340656	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:114340656C>G	ENST00000408128.1	-	0	17					NR_031632.1																						atctaaaattcaaactagctg	0.398000													30	127					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348546	3348546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3348546G>T	ENST00000378398.3	+	17	3620	c.3538G>T	c.(3538-3540)Gaa>Taa	p.E1180*	PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.E1180*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E1180*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1180	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGAGGACCACGAAGGCGGTCT	0.592000			T	EVI1	"""MDS, AML"""								16	69					4.96729e-08	5.16197e-08	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865552	118865552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:118865552G>C	ENST00000295622.1	+	1	556	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	172										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CATCTGACCAGAGAGGTTCCA	0.527000													24	80					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379918	231379918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:231379918G>A	ENST00000264052.5	+	25	2558	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	735					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAATTTGAAGATATGGC	0.388000													23	73					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911760	12911760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911760G>A	ENST00000301522.2	-	3	355	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PRDX2_ENST00000334482.5_Missense_Mutation_p.S76L|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.S76L	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	76	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAGTCCACCGAGACGCCCAG	0.587000													7	31					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69902716	69902716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:69902716G>T	ENST00000358913.5	+	3	1410	c.922G>T	c.(922-924)Gag>Tag	p.E308*	MYPN_ENST00000354393.2_Nonsense_Mutation_p.E33*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E308*|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E308*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	308	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAAGGCAAGGAGCTTGAAAA	0.453000													14	60					2.23348e-06	2.29989e-06	1	1	0
HTT	3064	broad.mit.edu	37	4	3176447	3176447	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3176447G>A	ENST00000355072.5	+	32	4311		c.e32-1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATTTGGCAGATGGTTTGAT	0.423000													14	31					0	0	1	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847289	65847289	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:65847289G>A	ENST00000261875.5	+	3	361	c.195G>A	c.(193-195)gtG>gtA	p.V65V	PTPLAD1_ENST00000568793.1_Silent_p.V40V|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.V103V|PTPLAD1_ENST00000442729.2_Silent_p.V65V	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	65	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGACCTTGTGAAACCAGAGG	0.413000													39	115					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188377	140188377	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140188377G>T	ENST00000530339.1	+	1	1605	c.1605G>T	c.(1603-1605)gtG>gtT	p.V535V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V535V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V535V	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCAGGTGACCGCTCGCG	0.652000													59	106					2.66076e-39	2.84877e-39	1	1	0
SSBP2	23635	broad.mit.edu	37	5	80742738	80742738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:80742738G>A	ENST00000320672.4	-	12	937	c.727C>T	c.(727-729)Cct>Tct	p.P243S	SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000509053.1_Missense_Mutation_p.P213S|SSBP2_ENST00000515395.1_Missense_Mutation_p.P221S|SSBP2_ENST00000505980.1_Missense_Mutation_p.P223S|SSBP2_ENST00000514493.1_Missense_Mutation_p.P213S	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	243	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCTCCTGGAGGACCCTAAATA	0.343000													14	32					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72418254	72418254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:72418254G>C	ENST00000359373.5	-	12	2540	c.1689C>G	c.(1687-1689)atC>atG	p.I563M	ARAP1_ENST00000393609.3_Missense_Mutation_p.I563M|ARAP1_ENST00000393605.3_Missense_Mutation_p.I323M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I563M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I318M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I318M|ARAP1_ENST00000334211.8_Missense_Mutation_p.I318M			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	563	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACAGAGGTTGATGGAGGCCC	0.647000													5	22					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345339	224345339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:224345339G>C	ENST00000366862.5	+	5	1041	c.998G>C	c.(997-999)gGa>gCa	p.G333A	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	333										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGTGCTGTAGGAAATTCCTCA	0.478000													28	113					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13494604	13494604	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:13494604C>G	ENST00000341083.3	-	7	1258	c.962G>C	c.(961-963)aGa>aCa	p.R321T	BEND7_ENST00000378605.3_Missense_Mutation_p.R334T|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Missense_Mutation_p.R373T|BEND7_ENST00000396898.2_Missense_Mutation_p.R386T	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	373	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TACCCAATCTCTTGGGCCAGG	0.363000													21	70					0	0	1	0	0
FNTB	2342	broad.mit.edu	37	14	65521359	65521359	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:65521359C>T	ENST00000246166.2	+	11	1368	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	CHURC1-FNTB_ENST00000549987.1_Silent_p.S413S|MAX_ENST00000341653.2_Intron|FNTB_ENST00000447296.2_Silent_p.S412S|FNTB_ENST00000542227.1_Silent_p.S332S	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTTCGGCAGCGGAGCCATGT	0.612000													8	28					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94809914	94809914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:94809914G>C	ENST00000262554.2	-	10	970	c.965C>G	c.(964-966)tCt>tGt	p.S322C		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	322						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AATTACAAAAGACCTGCCACA	0.388000													5	19					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177859	92177859	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:92177859G>C	ENST00000212355.4	-	13	2572	c.2107C>G	c.(2107-2109)Cta>Gta	p.L703V	TGFBR3_ENST00000525962.1_Missense_Mutation_p.L703V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.L702V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	703	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCACACTGTAGAAAGAGCAGT	0.488000													16	53					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559962	140559962	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140559962G>C	ENST00000239444.2	+	1	2592	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		783					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGGGCCAGAAATGGAACA	0.378000													21	98					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157776905	157776905	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:157776905G>A	ENST00000358292.3	-	2	90	c.39C>T	c.(37-39)ctC>ctT	p.L13L	FCRL1_ENST00000491942.1_Silent_p.L13L|FCRL1_ENST00000368176.3_Silent_p.L13L	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	13						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGTTCACAGAGTGGAGCTG	0.478000													15	45					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61439527	61439527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61439527G>A	ENST00000370461.1	+	1	2290	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	OGFR_ENST00000290291.6_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	0					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCGCCTCCCCGAAAGACACGG	0.622000											OREG0026118	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42863100	42863100	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42863100G>A	ENST00000334370.4	+	29	5771	c.5136G>A	c.(5134-5136)ctG>ctA	p.L1712L	MEGF8_ENST00000251268.6_Silent_p.L1779L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1779						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACCTCACCTGAAGGAGGTGA	0.577000													5	16					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59844459	59844459	+	Missense_Mutation	SNP	C	C	A	rs146728237	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:59844459C>A	ENST00000371218.4	+	5	688	c.504C>A	c.(502-504)ttC>ttA	p.F168L	FGGY_ENST00000303721.7_Missense_Mutation_p.F168L|FGGY_ENST00000371212.1_Missense_Mutation_p.F80L|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	168					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CGGGACATTTCTTTGATCTCC	0.403000													13	57					2.61681e-11	2.74119e-11	1	1	0
C12orf55	144535	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:97157951C>T	ENST00000524981.4	+	59	8086	c.8063C>T	c.(8062-8064)tCt>tTt	p.S2688F						chromosome 12 open reading frame 55																		AGAAGTAGTTCTGTTAAAGAA	0.333000													4	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557991	76557991	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:76557991G>C	ENST00000389840.5	-	12	1765	c.1641C>G	c.(1639-1641)gtC>gtG	p.V547V	DNAH17_ENST00000585328.1_Silent_p.V547V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGCATGACTGAATACC	0.577000													7	31					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851626	47851626	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:47851626G>C	ENST00000359568.5	+	38	8355	c.8248G>C	c.(8248-8250)Gag>Cag	p.E2750Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2750					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTGCGGCTGAGAAGAGCCG	0.647000													7	36					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161785	141161785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141161785G>C	ENST00000514251.1	+	4	834	c.555G>C	c.(553-555)ttG>ttC	p.L185F	ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	185					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L185F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CGCTGGACTTGAGGGCAAGTT	0.498000													24	122					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154002700	154002700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:154002700C>T	ENST00000496811.1	-	18	2188	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E	DHX36_ENST00000544526.1_Missense_Mutation_p.G689E|DHX36_ENST00000329463.5_Missense_Mutation_p.G689E|DHX36_ENST00000308361.6_Missense_Mutation_p.G703E	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	703						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATCATTTTTCCAATATGTGG	0.418000													22	57					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107571819	107571819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:107571819G>A	ENST00000374736.3	-	30	4596	c.4202C>T	c.(4201-4203)aCc>aTc	p.T1401I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1401					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGTTCCAGGGTTCCCGTGTC	0.483000													10	35					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168318	64168318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:64168318C>T	ENST00000395391.1	+	4	3011	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	ZNF107_ENST00000344930.3_Missense_Mutation_p.H546Y|ZNF107_ENST00000423627.1_Missense_Mutation_p.H546Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAAATTATTCATACTGGAGA	0.348000													11	35					0	0	1	0	0
SSR3	6747	broad.mit.edu	37	3	156271470	156271470	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:156271470C>T	ENST00000265044.2	-	2	328	c.234G>A	c.(232-234)aaG>aaA	p.K78K	SSR3_ENST00000467789.1_Silent_p.K78K|SSR3_ENST00000476217.1_Silent_p.K78K|SSR3_ENST00000463503.1_Silent_p.K26K|SSR3_ENST00000496050.1_Silent_p.K26K	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	78					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTCACATTCTTGTATGCAA	0.333000													10	37					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750290	8750290	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:8750290G>C	ENST00000276282.6	-	1	865	c.279C>G	c.(277-279)gtC>gtG	p.V93V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	93										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCTGCGCAGGACCAGGACGC	0.721000													5	14					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720716	135720716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:135720716G>C	ENST00000264977.3	+	2	993	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	126					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAATAAAAGAATTTTCCTT	0.378000													5	27					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475825	228475825	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:228475825C>T	ENST00000570156.2	+	42	11236	c.11162C>T	c.(11161-11163)aCg>aTg	p.T3721M	OBSCN_ENST00000422127.1_Missense_Mutation_p.T3292M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T411M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3292M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2139M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T411M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2754	Ig-like 38.				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)				GCCACGGCCACGCTGCGGTGT	0.612000													51	112					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100405533	100405533	+	Splice_Site	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405533G>T	ENST00000262233.6	+	21	2330		c.e21-1		EML1_ENST00000327921.9_Splice_Site|EML1_ENST00000334192.4_Splice_Site	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTTTGTTTTAGGAGTGTGGCC	0.572000													16	77					1.02788e-11	1.07941e-11	1	1	0
MAEA	10296	broad.mit.edu	37	4	1305911	1305911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:1305911G>T	ENST00000303400.4	+	2	277	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	MAEA_ENST00000510794.1_Missense_Mutation_p.D71Y|MAEA_ENST00000514708.1_Missense_Mutation_p.D72Y|MAEA_ENST00000264750.6_Missense_Mutation_p.D72Y|MAEA_ENST00000452175.2_Missense_Mutation_p.D61Y|MAEA_ENST00000505839.1_Missense_Mutation_p.D24Y|MAEA_ENST00000505177.2_Missense_Mutation_p.D72Y	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	72	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CAGCCTGCTGGACGGCGTGGT	0.632000													11	54					3.07112e-06	3.15668e-06	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217784238	217784238	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:217784238G>A	ENST00000366935.3	-	4	1121	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	GPATCH2_ENST00000366934.3_Silent_p.S337S	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	337						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GACCTCTTCTGCTTGGGTGTG	0.413000													14	41					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510634	5510634	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:5510634C>T	ENST00000322641.5	+	1	720	c.698C>T	c.(697-699)tCt>tTt	p.S233F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTTCCATCTCATGATGCC	0.512000													35	161					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105397102	105397102	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:105397102C>T	ENST00000540372.1	+	7	954	c.762C>T	c.(760-762)atC>atT	p.I254I	PLD4_ENST00000392593.4_Silent_p.I247I			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	247					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCGCTGTCATCTATAACTGCA	0.617000													39	119					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156562243	156562243	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156562243C>T	ENST00000368235.3	+	3	421	c.378C>T	c.(376-378)gtC>gtT	p.V126V	APOA1BP_ENST00000368234.3_Silent_p.V126V|APOA1BP_ENST00000368233.3_Silent_p.V126V|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	126	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGTCTGGTCTGTGCTCGAC	0.582000													34	122					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12043687	12043687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:12043687G>C	ENST00000356352.2	-	5	2115	c.1642C>G	c.(1642-1644)Ctt>Gtt	p.L548V	UPF2_ENST00000357604.5_Missense_Mutation_p.L548V|UPF2_ENST00000397053.2_Missense_Mutation_p.L548V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	548					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	p.L548I(1)		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)				TGTTCATCAAGAAGTTTCTTT	0.333000													3	26					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48290643	48290643	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:48290643G>A	ENST00000285737.4	+	3	684	c.591G>A	c.(589-591)gaG>gaA	p.E197E	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	197	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAACAAAGAGAAACTCCAGG	0.393000													15	55					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61524224	61524224	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:61524224C>G	ENST00000266070.4	-	13	3517	c.3192G>C	c.(3190-3192)caG>caC	p.Q1064H	DIDO1_ENST00000395335.2_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395340.1_Missense_Mutation_p.Q1064H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1064					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGCCACACTCTGCATGTTAA	0.448000													17	64					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126105	31126105	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:31126105C>T	ENST00000304166.4	+	10	1066	c.777C>T	c.(775-777)ttC>ttT	p.F259F	ADCYAP1R1_ENST00000409363.1_Silent_p.F238F|ADCYAP1R1_ENST00000396211.2_Silent_p.F259F|ADCYAP1R1_ENST00000409489.1_Silent_p.F259F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	259					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGAGACCTTCTTCCCTGAAA	0.532000													9	48					0	0	1	0	0
LINC00336	401253	broad.mit.edu	37	6	33561114	33561114	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33561114C>G	ENST00000477984.1	-	0	1					NR_027908.1																						GCGCTCGCATCTGAGAACTGC	0.692000													4	20					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100181787	100181787	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:100181787G>A	ENST00000376387.4	+	4	590	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	134					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGAGAAAGCTGAAGACAAACA	0.313000													22	31					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7303849	7303849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:7303849C>T	ENST00000244763.4	-	3	300	c.214G>A	c.(214-216)Gat>Aat	p.D72N	SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000462112.1_Missense_Mutation_p.D72N|SSR1_ENST00000534851.1_Intron|SSR1_ENST00000489567.1_Missense_Mutation_p.D72N|SSR1_ENST00000397511.2_Missense_Mutation_p.D72N|SSR1_ENST00000479365.1_Missense_Mutation_p.D72N|SSR1_ENST00000474597.1_Missense_Mutation_p.D72N	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	72					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					CCAGACACATCTTCTTCCTCT	0.333000													55	57					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15311338	15311338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:15311338C>G	ENST00000537676.1	-	4	483	c.411G>C	c.(409-411)caG>caC	p.Q137H	ASB11_ENST00000380470.3_Missense_Mutation_p.Q141H|ASB11_ENST00000344384.4_Missense_Mutation_p.Q137H|ASB11_ENST00000480796.1_Missense_Mutation_p.Q158H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	158					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCACCTCCAACTGGGCCTTGG	0.552000													58	65					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:24201626G>A	ENST00000536471.1	-	3	740	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CNR2_ENST00000374472.4_Missense_Mutation_p.S161L			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587000													23	64					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965463	18965463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18965463G>A	ENST00000262803.5	+	9	1482	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	UPF1_ENST00000599848.1_Missense_Mutation_p.E415K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	415	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGCACCTGTGGAGGTGACTCA	0.547000													69	202					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189416	29189416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:29189416C>T	ENST00000234961.2	+	3	982	c.740C>T	c.(739-741)tCg>tTg	p.S247L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	247					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CGCCTGCTGTCGGGCTCCAAG	0.632000													14	34					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345153	20345153	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:20345153C>T	ENST00000298642.2	+	1	763	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTACAGCTCATTTCATTGT	0.378000													28	214					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148457547	148457547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:148457547G>T	ENST00000325222.4	+	7	1027	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.E250*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E250*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGAGAGTACTGAATTCTTGCA	0.348000													42	99					3.7052e-28	3.95953e-28	1	1	0
GGT7	2686	broad.mit.edu	37	20	33440073	33440073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33440073G>A	ENST00000336431.5	-	12	1516	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	491					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CTGGTTCAGGGAGCTGGGGGC	0.637000													18	46					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572556	108572556	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:108572556C>G	ENST00000295756.6	+	6	623	c.393C>G	c.(391-393)ttC>ttG	p.F131L	TRAT1_ENST00000426646.1_Missense_Mutation_p.F94L	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	131					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATACTCATTTCTCAGACAAGG	0.463000													13	59					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87023143	87023143	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:87023143C>T	ENST00000395169.3	-	7	1074	c.354G>A	c.(352-354)gtG>gtA	p.V118V	MAPK10_ENST00000395157.3_Silent_p.V11V|MAPK10_ENST00000395166.1_Silent_p.V118V|MAPK10_ENST00000395161.2_Silent_p.V156V|MAPK10_ENST00000449047.2_Silent_p.V11V|MAPK10_ENST00000395160.3_Silent_p.V11V|MAPK10_ENST00000361569.2_Silent_p.V156V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000359221.3_Silent_p.V156V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	156	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCATCTGAATCACTTGACATA	0.408000													31	133					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37107346	37107346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:37107346G>C	ENST00000421307.1	-	24	2076	c.1654C>G	c.(1654-1656)Cag>Gag	p.Q552E	MLH1_ENST00000536378.1_3'UTR|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q334E|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q255E|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q231E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.Q552E|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q255E	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	552					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAGCTTCCTGAGACACAACA	0.483000													27	84					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1478943G>C	ENST00000301335.5	-	14	1753	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	SLC43A2_ENST00000382147.4_Silent_p.L559L|SLC43A2_ENST00000412517.3_Silent_p.L418L|SLC43A2_ENST00000571650.1_Silent_p.L559L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617000													8	33					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003061	20003061	+	Silent	SNP	A	A	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:20003061A>T	ENST00000589717.1	+	4	1097	c.1005A>T	c.(1003-1005)acA>acT	p.T335T	ZNF253_ENST00000355650.4_Silent_p.T259T	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	335				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATTCATACAGGAGAGAAAC	0.383000													5	48					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68386284	68386284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68386284C>T	ENST00000339507.5	+	15	2377	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	PRMT7_ENST00000441236.1_Missense_Mutation_p.S466L|PRMT7_ENST00000348497.4_Missense_Mutation_p.S368L|PRMT7_ENST00000449359.3_Missense_Mutation_p.S466L			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	516					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGCAGCCTCGCTGCACGCT	0.617000													27	81					0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132375791	132375791	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132375791C>G	ENST00000372478.4	-	5	1167	c.966G>C	c.(964-966)gaG>gaC	p.E322D	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	322										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGGGCAAACTCTCCAGCCGTT	0.632000													32	84					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978565	63978565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:63978565G>A	ENST00000279227.5	+	4	531	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E146K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	146					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGGGCTCCTGagaagaagga	0.617000													5	12					0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167409970	167409970	+	Silent	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:167409970G>T	ENST00000392122.3	-	2	237	c.93C>A	c.(91-93)ctC>ctA	p.L31L	CD247_ENST00000362089.5_Silent_p.L31L|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	31					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GCAGGTAGCAGAGTTTGGGAT	0.547000													8	31					1	1	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:134080563C>T	ENST00000514516.1	-	6	1718	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	AMOTL2_ENST00000249883.5_Missense_Mutation_p.E456K|AMOTL2_ENST00000422605.2_Missense_Mutation_p.E456K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E456K	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652000													13	33					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231348	7231348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:7231348C>A	ENST00000383467.2	+	1	226	c.212C>A	c.(211-213)tCc>tAc	p.S71Y		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	71										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGGCTTGTCCGAGGTCCAG	0.607000													23	75					1.9806e-07	2.05319e-07	1	1	0
PGR	5241	broad.mit.edu	37	11	100998975	100998975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:100998975G>A	ENST00000325455.5	-	1	2280	c.827C>T	c.(826-828)tCa>tTa	p.S276L	PGR_ENST00000263463.5_Missense_Mutation_p.S276L|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	276	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCTGGGCGCTGAGAAGCGGGA	0.731000													7	18					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415550	43415550	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:43415550C>T	ENST00000244533.3	+	16	4109	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	ABCC10_ENST00000372530.4_Silent_p.I1278I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1278	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTGGGCATCGTGGGCCGCA	0.642000													70	211					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108547945	108547945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108547945C>A	ENST00000526794.1	+	4	544	c.512C>A	c.(511-513)tCa>tAa	p.S171*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.S171*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	171	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CATGACTTCTCAGCTGGTCTC	0.468000			T	NUP98	AML*								29	111					1.06801e-11	1.12016e-11	1	1	0
TFCP2L1	29842	broad.mit.edu	37	2	122004422	122004422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:122004422G>A	ENST00000263707.5	-	6	726	c.629C>T	c.(628-630)tCa>tTa	p.S210L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	210					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCAGCTGGCTGAGTGCAGGTG	0.602000													31	137					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464510	17464510	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:17464510G>A	ENST00000380647.3	+	21	3504	c.3420G>A	c.(3418-3420)gaG>gaA	p.E1140E	CNTLN_ENST00000262360.5_Silent_p.E1140E|CNTLN_ENST00000425824.1_Silent_p.E1140E			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1140						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCGAATGGAGAGGGATATAA	0.303000													16	34					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108192065G>C	ENST00000278616.4	+	45	6875	c.6490G>C	c.(6490-6492)Gag>Cag	p.E2164Q	ATM_ENST00000452508.2_Missense_Mutation_p.E2164Q|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			29	119					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840340	57840340	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:57840340G>A	ENST00000321545.4	+	4	1855	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		TCACACTGGAGAGAAACCCTA	0.517000													24	83					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:27729502C>T	ENST00000354914.3	-	9	1922	c.1437G>A	c.(1435-1437)gtG>gtA	p.V479V	SCARA5_ENST00000380385.2_Silent_p.V254V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577000													23	78					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32673000	32673000	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:32673000G>C	ENST00000537469.1	+	5	1005	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	IQCC_ENST00000291358.6_Missense_Mutation_p.E240Q	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	240										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GACCACTGGAGAGCTAGAACA	0.547000													22	49					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46801788	46801788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46801788C>T	ENST00000529230.1	-	20	2435	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	CKAP5_ENST00000415402.1_Missense_Mutation_p.E797K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E797K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E797K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	797					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCAGGCTTCTCATCCTCAAAG	0.443000													12	55					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179526363	179526363	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526363G>A	ENST00000367615.4	-	5	605	c.537C>T	c.(535-537)atC>atT	p.I179I	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	179					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTTGGTCACGATCTAGGCAG	0.413000													12	39					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150835257	150835257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:150835257C>T	ENST00000397238.2	+	12	1523	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	472	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AGCAGCGCATCCCTGCACTCT	0.682000													7	27					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569108	49569108	+	Silent	SNP	T	T	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49569108T>C	ENST00000545947.1	+	6	1886	c.1164T>C	c.(1162-1164)acT>acC	p.T388T	DAG1_ENST00000308775.2_Silent_p.T388T|DAG1_ENST00000538711.1_Silent_p.T388T|DAG1_ENST00000515359.2_Silent_p.T388T|DAG1_ENST00000541308.1_Silent_p.T388T|DAG1_ENST00000539901.1_Silent_p.T388T	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	388	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCAGCCTACTCGGGTGTCAG	0.587000													59	152					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618604	37618604	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37618604G>A	ENST00000399151.3	+	19	4411	c.4326G>A	c.(4324-4326)ctG>ctA	p.L1442L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1442					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGAGCTGCTGAAGCTGCTGC	0.612000													16	43					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063335	76063335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:76063335G>C	ENST00000260045.3	-	5	964	c.859C>G	c.(859-861)Cat>Gat	p.H287D		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	287					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CTTAGGTTATGAGATTCATCA	0.423000													7	34					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961944	68961944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:68961944G>C	ENST00000261778.1	+	13	2613	c.2601G>C	c.(2599-2601)caG>caC	p.Q867H	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GGATAGAGCAGAGAGAAGCAA	0.488000													5	9					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151107335	151107335	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151107335G>C	ENST00000341697.3	-	16	3288	c.1597C>G	c.(1597-1599)Cag>Gag	p.Q533E				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	533						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGGGTCCTGAGAAGCCAAA	0.522000													18	65					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174131031	174131031	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:174131031C>G	ENST00000375213.3	+	20	2034	c.1956C>G	c.(1954-1956)ctC>ctG	p.L652L	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.L652L|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					CCCTACATCTCAACTCTAGGG	0.468000													17	74					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722102	56722102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56722102C>T	ENST00000425394.2	-	4	869	c.493G>A	c.(493-495)Gac>Aac	p.D165N	PAN2_ENST00000440411.3_Missense_Mutation_p.D165N|PAN2_ENST00000548043.1_Missense_Mutation_p.D165N|PAN2_ENST00000257931.5_Missense_Mutation_p.D165N	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	165					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GTGCTGCTGTCAGTCAGTAGG	0.512000													50	130					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73321094	73321094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:73321094G>C	ENST00000390667.5	+	10	1424	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	BORA_ENST00000377815.3_Missense_Mutation_p.D373H	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	443					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AGAGATAGCAGATGAGACCAC	0.413000													24	87					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50074583	50074583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:50074583G>A	ENST00000298288.6	+	3	1072	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	250										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCAGCTCCAGGAACTTAAGAA	0.403000													11	47					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12516150	12516150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:12516150G>A	ENST00000358136.3	+	66	12560	c.12430G>A	c.(12430-12432)Gaa>Aaa	p.E4144K	VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4119K|VPS13D_ENST00000543766.1_Missense_Mutation_p.E142K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4143					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)		CACAAGTGGTGAACACCTTGT	0.527000													18	77					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113241408	113241408	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113241408G>C	ENST00000369644.1	+	18	3441	c.2412G>C	c.(2410-2412)ttG>ttC	p.L804F	MOV10_ENST00000413052.2_Missense_Mutation_p.L860F|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.L860F|MOV10_ENST00000369645.1_Missense_Mutation_p.L860F			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	860					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCAAGGACTTGAAGGTGACAT	0.557000													52	166					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37617864G>A	ENST00000399151.3	+	19	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1196					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCAGCGACGAGGAGGCGGA	0.617000													22	71					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476255	13476255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13476255C>T	ENST00000360228.5	-	5	659	c.660G>A	c.(658-660)atG>atA	p.M220I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M220I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	220					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCATCGCCTTCATGATCGACT	0.478000													16	50					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22297645	22297645	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:22297645G>C	ENST00000324559.8	+	21	2737	c.2420G>C	c.(2419-2421)aGa>aCa	p.R807T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	807						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCAGGTACAGAGATTACAGA	0.323000													11	29					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62483065	62483065	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:62483065G>A	ENST00000301785.5	-	13	2262	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.F690F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	690	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATCGATCATAGAAATTACGGT	0.423000													27	95					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134999708	134999708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:134999708G>A	ENST00000304613.3	+	6	877	c.856G>A	c.(856-858)Gag>Aag	p.E286K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E286K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E221K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	286					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTGGATGCCGAGCGCACCCT	0.701000													5	17					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291284	2291284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:2291284G>T	ENST00000585527.1	-	1	739	c.492C>A	c.(490-492)ttC>ttA	p.F164L	LINGO3_ENST00000404279.1_Missense_Mutation_p.F164L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	164						integral to membrane				lung(1)|urinary_tract(1)	2						GGCGCGAGACGAATACCAGGT	0.657000													9	54					0.000274275	0.000277878	1	1	0
PEX6	5190	broad.mit.edu	37	6	42936706	42936706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42936706C>T	ENST00000304611.8	-	6	1454	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	PEX6_ENST00000244546.4_Missense_Mutation_p.G462E	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	462					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACTGCTAGTTCCTGTCAGCAG	0.537000													23	73					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64863366	64863366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:64863366G>C	ENST00000261308.5	+	2	295	c.223G>C	c.(223-225)Gat>Cat	p.D75H	PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.D45H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	75					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGTCTATCTTGATAATCTCCC	0.313000													11	36					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:25611305G>A	ENST00000330688.4	+	4	926	c.505G>A	c.(505-507)Gag>Aag	p.E169K	RARB_ENST00000458646.1_Missense_Mutation_p.E57K|RARB_ENST00000437042.2_Missense_Mutation_p.E57K|RARB_ENST00000404969.1_Missense_Mutation_p.E176K|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488000													29	89					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810410	47810410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:47810410C>T	ENST00000285106.6	-	10	1981	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CXXC1_ENST00000412036.2_Missense_Mutation_p.E427K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E423K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	423					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGTGCTCTTCAGCAATGCAA	0.587000													43	114					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62483543	62483543	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:62483543C>T	ENST00000371158.2	+	29	3997	c.3883C>T	c.(3883-3885)Ctg>Ttg	p.L1295L	INADL_ENST00000545929.1_Intron|INADL_ENST00000543708.1_Silent_p.L79L|INADL_ENST00000316485.6_Silent_p.L1295L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1295	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAATCAGATTCTGTATGGAAG	0.338000													25	53					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908550	48908550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:48908550C>G	ENST00000263269.3	+	3	1113	c.1025C>G	c.(1024-1026)cCt>cGt	p.P342R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	342						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGTTTCCTTCCTGAGCTCGGC	0.682000													6	17					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661423	18661423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:18661423G>T	ENST00000251296.1	+	4	726	c.343G>T	c.(343-345)Gag>Tag	p.E115*		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	115	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGTCCCTATGAGTGCCATGT	0.622000													22	52					1.40151e-16	1.48369e-16	1	1	0
SEMA4A	64218	broad.mit.edu	37	1	156146608	156146608	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:156146608C>T	ENST00000368285.3	+	15	2373	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	SEMA4A_ENST00000368284.1_Silent_p.L570L|SEMA4A_ENST00000355014.2_Silent_p.L702L|SEMA4A_ENST00000368286.2_Silent_p.L570L|SEMA4A_ENST00000368282.1_Silent_p.L702L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	702					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCATCATCCTCGTGGCCTCCC	0.632000													19	87					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47372904	47372904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:47372904C>T	ENST00000545968.1	-	2	232	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E60K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E60K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	60					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGTGTGCCCTCTGTGGCCAGG	0.632000													3	21					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27458964	27458964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27458964G>A	ENST00000375946.4	+	8	1679	c.1076G>A	c.(1075-1077)gGt>gAt	p.G359D	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.G359D|MASTL_ENST00000342386.6_Missense_Mutation_p.G359D	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	359	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGACGAAAGGTTTCAATAAA	0.433000													18	73					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201017798	201017798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201017798C>T	ENST00000362061.3	-	36	4579	c.4353G>A	c.(4351-4353)atG>atA	p.M1451I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1432I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1451					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGGCATGTTCATGCCCACCA	0.617000													10	34					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39318616	39318616	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:39318616C>G	ENST00000381897.1	-	10	1255	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	RFC1_ENST00000349703.2_Missense_Mutation_p.K374N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	374					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGTGCGTTTCTTTTCAGAAT	0.378000													15	31					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417171	89417171	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:89417171G>C	ENST00000439576.2	+	17	7806	c.7432G>C	c.(7432-7434)Gag>Cag	p.E2478Q	ACAN_ENST00000561243.1_Missense_Mutation_p.E2478Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2440Q|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2478					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGTGCACAGAGGGGTTTGT	0.642000													8	39					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:150840608G>A	ENST00000474524.1	+	3	281	c.243G>A	c.(241-243)ctG>ctA	p.L81L	MED12L_ENST00000273432.4_Silent_p.L81L|MED12L_ENST00000309237.4_Silent_p.L81L|MED12L_ENST00000422248.2_Silent_p.L81L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378000													4	28					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29440222	29440222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:29440222G>C	ENST00000222792.6	+	6	884	c.354G>C	c.(352-354)aaG>aaC	p.K118N	CHN2_ENST00000495789.2_Missense_Mutation_p.K131N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.K193N|CHN2_ENST00000546235.1_Missense_Mutation_p.K103N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	118	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGGTGAGAAGAGGTTTGAGT	0.448000													24	65					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653779	69653779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:69653779G>C	ENST00000370598.1	+	6	1909	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	363	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACATGTGGTCGAGGCCAAAGA	0.438000													22	68					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697599	124697599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:124697599G>A	ENST00000481909.1	-	5	949	c.725C>T	c.(724-726)tCc>tTc	p.S242F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	242										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGTAGATGAGGATTGTAGTCC	0.403000													32	102					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431347	117431347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:117431347G>A	ENST00000160373.3	-	4	1994	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	635										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCACCCACCTGAGACGTGGCC	0.552000													15	55					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865621	23865621	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23865621G>A	ENST00000405093.3	-	20	2371	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	MYH6_ENST00000356287.3_Silent_p.F767F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	767	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTGCCTTGAAGAACACCT	0.637000													22	50					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788419	80788419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788419C>G	ENST00000269394.3	-	3	2604	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E192Q|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	591						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCCATCCTCAGAACCTTCT	0.677000													24	89					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998854	176998854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:176998854C>A	ENST00000367654.3	-	5	1247	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E346*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E346*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E346*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAATCCCCTTCAGGGTTCAAG	0.493000													11	19					0.00829132	0.00836526	1	1	0
KRT24	192666	broad.mit.edu	37	17	38859916	38859916	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38859916G>A	ENST00000264651.2	-	1	86	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	10	Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTCCAGCCCTGGAGGAGGAGG	0.607000													15	49					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229779297	229779297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:229779297C>T	ENST00000258243.2	+	5	3788	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1218						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AATTCCTGTTCAGGTCACTCA	0.448000													19	72					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180677	212180677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:212180677G>C	ENST00000366994.3	-	6	775	c.671C>G	c.(670-672)tCc>tGc	p.S224C	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S224C|INTS7_ENST00000366993.3_Missense_Mutation_p.S224C|INTS7_ENST00000440600.2_Missense_Mutation_p.S175C	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	224					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGACGGATAGGATGTGACCAG	0.433000													14	45					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465586	26465586	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26465586G>A	ENST00000429381.1	+	5	1098	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	BTN2A1_ENST00000469185.1_Missense_Mutation_p.E296K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.E296K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E235K			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	296					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCTCTAAAGGAACTGGAGAA	0.423000													58	69					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262970	159262970	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:159262970C>G	ENST00000522287.1	-	0	373					NR_028496.1																						TTCATTTACTCTGTAGGCCAA	0.418000													23	84					0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132584879	132584879	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:132584879G>C	ENST00000351698.4	-	2	473	c.425C>G	c.(424-426)tCa>tGa	p.S142*	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	142					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GGTGATGTTTGAAGCATGTGG	0.463000													14	67					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373870	57373870	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57373870C>T	ENST00000403558.1	+	5	1374	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000378323.4_Intron|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000278407.4_Intron	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	296					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTCCCACCTCTTCCCTCTAG	0.433000													15	78					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788126	80788126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80788126C>G	ENST00000269394.3	-	3	2897	c.2064G>C	c.(2062-2064)aaG>aaC	p.K688N	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K289N|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	688						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACTTGTCCTCTTTTGTCCTT	0.592000													38	103					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42289312	42289312	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:42289312G>C	ENST00000302904.4	-	9	1326	c.834C>G	c.(832-834)acC>acG	p.T278T	UBTF_ENST00000527034.1_Silent_p.T241T|UBTF_ENST00000533177.1_Silent_p.T241T|UBTF_ENST00000436088.1_Silent_p.T278T|UBTF_ENST00000343638.5_Silent_p.T241T|UBTF_ENST00000393606.3_Silent_p.T241T|UBTF_ENST00000526094.1_Silent_p.T241T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.T278T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	278					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGTGGACTTGGTGATACCCT	0.612000													35	124					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19345995	19345995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:19345995G>C	ENST00000380432.2	+	18	2406	c.2373G>C	c.(2371-2373)aaG>aaC	p.K791N	DENND4C_ENST00000434457.2_Missense_Mutation_p.K1076N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K1027N			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	791						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTAATCTCAAGAAGAATGGTG	0.358000													19	65					0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9727726	9727726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9727726G>A	ENST00000302851.3	-	4	599	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZNF561_ENST00000424629.1_Missense_Mutation_p.S10F|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.S79F	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTTACCCACAGAGGCCAGGTT	0.537000													14	62					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42995194	42995194	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:42995194C>T	ENST00000244496.5	+	6	632	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	208					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCAGGGCCATCGGCCATACTT	0.572000													29	76					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457247	25457247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:25457247C>T	ENST00000264709.3	-	23	2977	c.2640G>A	c.(2638-2640)atG>atA	p.M880I	DNMT3A_ENST00000380746.4_Missense_Mutation_p.M691I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M880I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.M657I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	880					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGCGGCTCATGTTGGAGA	0.597000			"""Mis, F, N, S"""		AML								28	58					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37620841	37620841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:37620841C>G	ENST00000399151.3	+	21	5058	c.4973C>G	c.(4972-4974)tCt>tGt	p.S1658C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1658					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGGGATCCTCTTCCGTTTAC	0.438000													12	54					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6193699	6193699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:6193699G>A	ENST00000306177.5	+	15	2672	c.2514G>A	c.(2512-2514)atG>atA	p.M838I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	838	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAAAGGGGATGATCGCGGAGG	0.701000													32	94					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220752866	220752866	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:220752866C>T	ENST00000366918.4	+	2	819	c.222C>T	c.(220-222)gtC>gtT	p.V74V	MARK1_ENST00000366917.4_Silent_p.V74V|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	74	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGCCAAAGTCAAATTGGCAA	0.413000													9	58					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48140806	48140806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:48140806C>G	ENST00000381501.3	-	17	1845	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	563	Protein kinase.		R -> K (in a lung adenocarcinoma sample; somatic mutation).		intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R563K(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AAAAGGCATTCTGCCTTCCGT	0.458000													14	50					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022245	31022245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:31022245C>G	ENST00000375687.4	+	13	2154	c.1730C>G	c.(1729-1731)tCa>tGa	p.S577*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S572*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	577					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.S577*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATTCAACTTTCACGTATCAAA	0.473000			"""F, N, Mis"""		"""MDS, CMML"""								18	103					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959695	8959695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:8959695C>T	ENST00000325884.1	-	2	73	c.14G>A	c.(13-15)aGa>aAa	p.R5K	ASCL3_ENST00000531618.1_Missense_Mutation_p.R5K	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	4					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGTTGCCTCTGTTGTCCAT	0.443000													80	227					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379227	114379227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:114379227C>G	ENST00000312719.5	-	5	1423	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79Q|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	79					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGAACCTGCTCCTTGGAAGCG	0.597000													14	69					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97403767	97403767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:97403767C>T	ENST00000264963.4	-	2	247	c.225G>A	c.(223-225)atG>atA	p.M75I	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.M75I|LMAN2L_ENST00000534882.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	75	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGGCATTGCCCATCAGATTCC	0.493000													16	24					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65618826	65618826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:65618826C>T	ENST00000308342.6	+	8	1162	c.737C>T	c.(736-738)tCa>tTa	p.S246L		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	246					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		ATCCCTATCTCAGCTGCGCTG	0.562000											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40655912	40655912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:40655912C>T	ENST00000267889.3	+	2	293	c.206C>T	c.(205-207)tCt>tTt	p.S69F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	69					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTTCCAGCTCTTCAGGACCC	0.637000													48	149					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896558	18896558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:18896558G>A	ENST00000542601.2	-	13	1883	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	COMP_ENST00000425807.1_Silent_p.F478F|COMP_ENST00000222271.2_Silent_p.F531F			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	531					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGAAGGCCCTGAAGTCGGTGA	0.632000													28	65					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44573623	44573623	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:44573623G>C	ENST00000372409.3	+	11	1486	c.1122G>C	c.(1120-1122)cgG>cgC	p.R374R		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	374						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACGTCAAACGGATCCGAGAGA	0.572000													7	36					0	0	1	0	0
CTC-360G5.8	0	broad.mit.edu	37	19	39435635	39435635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:39435635G>T	ENST00000599996.1	-	4	379	c.380C>A	c.(379-381)tCa>tAa	p.S127*	FBXO17_ENST00000292852.4_Missense_Mutation_p.Q223K|FBXO17_ENST00000595329.1_Missense_Mutation_p.Q223K|SARS2_ENST00000448145.2_Missense_Mutation_p.Q58K																							TCAGTCCACTGAAGGACCGGG	0.612000													24	112					7.33532e-06	7.51693e-06	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48741345	48741345	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48741345C>T	ENST00000285238.8	+	10	1291	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	ABCC3_ENST00000427699.1_Missense_Mutation_p.S404F	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	404	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAACGTGCGTCCACTGTGGGG	0.577000													54	68					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212219	49212219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:49212219G>C	ENST00000332780.2	+	4	795	c.586G>C	c.(586-588)Gat>Cat	p.D196H	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	196						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGCCTTTGATCTGGAGGC	0.632000													22	58					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61693580	61693580	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:61693580C>T	ENST00000423902.2	+	3	2166	c.1687C>T	c.(1687-1689)Cta>Tta	p.L563L	CHD7_ENST00000525508.1_Silent_p.L563L|CHD7_ENST00000524602.1_Silent_p.L563L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	563	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGCCCTTTCTAGAGAAACC	0.433000													5	16					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109771587	109771587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:109771587C>G	ENST00000368952.4	-	8	1454	c.1164G>C	c.(1162-1164)atG>atC	p.M388I	MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000358807.3_Missense_Mutation_p.M369I			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	369					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGCCCGCATCATGCTCGTGA	0.607000													30	83					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874440	33874440	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33874440G>C	ENST00000374408.3	-	4	2238	c.2142C>G	c.(2140-2142)gtC>gtG	p.V714V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	714										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCATCCCTGACCAGGTCAC	0.552000													39	102					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43308331	43308331	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:43308331G>C	ENST00000328249.3	+	9	1624	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.E286Q|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.E286Q|ERMAP_ENST00000487556.1_3'UTR			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	286			Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTAGGCTCTGAGTACTTCAC	0.507000													27	124					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123597521	123597521	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:123597521C>T	ENST00000336139.4	-	8	1493	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	ZNF202_ENST00000529691.1_Silent_p.V377V|ZNF202_ENST00000530393.1_Silent_p.V377V			O95125	ZN202_HUMAN	zinc finger protein 202	377					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CAAAACTATTCACTTGAGAAA	0.433000													21	107					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387253	150387253	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:150387253C>T	ENST00000367339.2	-	2	162	c.134G>A	c.(133-135)aGa>aAa	p.R45K	ULBP3_ENST00000438272.2_Missense_Mutation_p.R45K			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TTGCCCATGTCTGGGCAAATG	0.468000													12	67					0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	677928	677928	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:677928G>A	ENST00000166139.4	+	2	272	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	80	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGAACAAGATCAACCTCC	0.627000			T	CCND1	B-CLL								29	109					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33165597	33165597	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33165597C>T	ENST00000374680.3	-	4	973	c.762G>A	c.(760-762)cgG>cgA	p.R254R	RXRB_ENST00000374685.4_Silent_p.R254R|RXRB_ENST00000544186.1_Silent_p.R64R|RXRB_ENST00000413614.2_Silent_p.R158R	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACAGCGGTTCCGCTGGCGCT	0.582000													9	48					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20078127	20078127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:20078127C>T	ENST00000540292.1	+	22	4745	c.4745C>T	c.(4744-4746)tCa>tTa	p.S1582L	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.S1651L|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.S1580L|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron			Q8IVL1	NAV2_HUMAN	neuron navigator 2	1651	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTTCACAGCTCACTTCATTTC	0.408000													9	43					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90106743	90106743	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:90106743C>T	ENST00000268699.4	+	9	1169	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	GAS8_ENST00000536122.1_Silent_p.F324F|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	349					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ATCGGAAGTTCACCGCAGCCA	0.622000													4	15					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71915560	71915560	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:71915560G>A	ENST00000373545.3	-	4	890	c.452C>T	c.(451-453)tCa>tTa	p.S151L	PHKA1_ENST00000339490.3_Missense_Mutation_p.S151L|PHKA1_ENST00000373542.4_Missense_Mutation_p.S151L|PHKA1_ENST00000373539.3_Missense_Mutation_p.S151L|PHKA1_ENST00000541944.1_Missense_Mutation_p.S151L|PHKA1-AS1_ENST00000420998.1_RNA			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	151					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTACTGACCTGAGGCAGTCAT	0.498000													16	19					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6152170	6152170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:6152170G>A	ENST00000264870.3	-	14	2186	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	641					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAACTACCTGAGTGCCACGG	0.438000													22	23					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933742	36933742	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36933742C>T	ENST00000373103.1	-	13	2204	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	CSF3R_ENST00000338937.5_Missense_Mutation_p.E553K|CSF3R_ENST00000361632.4_Missense_Mutation_p.E553K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E553K|CSF3R_ENST00000373104.1_Missense_Mutation_p.E553K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E553K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373106.1_Missense_Mutation_p.E553K|CSF3R_ENST00000440588.2_Missense_Mutation_p.E553K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	553	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCCCAGCTCAGGGGGCTCA	0.592000													30	81					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166747063	166747063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:166747063C>G	ENST00000243344.7	-	24	3326	c.3189G>C	c.(3187-3189)atG>atC	p.M1063I	TTC21B_ENST00000536175.1_Start_Codon_SNP_p.M1I	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1063						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AGATCTCTATCATATTATAAA	0.388000													14	35					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207035	121207035	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121207035C>T	ENST00000264233.5	-	16	4871	c.4743G>A	c.(4741-4743)aaG>aaA	p.K1581K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1581					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGTATGATTCTTCTCTTGGA	0.383000								DNA polymerases (catalytic subunits)					29	83					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678885	50678885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:50678885G>A	ENST00000355832.5	-	18	3199	c.3121C>T	c.(3121-3123)Caa>Taa	p.Q1041*	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Nonsense_Mutation_p.Q411*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1041					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGGCTGGTTGAATCCTTCTT	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)					24	89					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55238517	55238517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:55238517G>A	ENST00000381298.2	-	16	2312	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	IL6ST_ENST00000381293.2_Missense_Mutation_p.H180Y|IL6ST_ENST00000381294.3_Missense_Mutation_p.S606L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.S667L|IL6ST_ENST00000381286.3_Missense_Mutation_p.H43Y|IL6ST_ENST00000502326.3_Missense_Mutation_p.S667L|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	667					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTGTGAGGTGACCACTGGGC	0.368000			O		hepatocellular ca								10	34					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361413	83361413	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:83361413C>T	ENST00000262752.2	-	15	1332	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R442Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	442	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGTATGCATCGCTTGCAAAC	0.353000													4	7					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100549608	100549608	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100549608C>G	ENST00000379458.4	+	2	189	c.189C>G	c.(187-189)ctC>ctG	p.L63L	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCCCCAGCTCGCCTCTCCTG	0.572000													30	134					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78569172	78569172	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:78569172G>C	ENST00000397909.2	+	25	5241	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H	NAV3_ENST00000536525.2_Missense_Mutation_p.D1690H|NAV3_ENST00000228327.6_Missense_Mutation_p.D1690H|NAV3_ENST00000266692.7_Missense_Mutation_p.D1513H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1690						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTGGTAATGATGCCGACTC	0.398000										HNSCC(70;0.22)			6	46					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884475	50884475	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:50884475G>A	ENST00000404795.3	-	3	1883	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	DMRTA2_ENST00000418121.1_Silent_p.F497F	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	497	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						TGGGTGGGCGGAAGCCGAGCG	0.726000													8	17					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835629	15835629	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15835629C>T	ENST00000452625.2	-	22	2748	c.2661G>A	c.(2659-2661)caG>caA	p.Q887Q	MYH11_ENST00000396324.3_Silent_p.Q887Q|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Silent_p.Q880Q|MYH11_ENST00000300036.5_Silent_p.Q880Q	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	880				EEK -> NSE (in Ref. 4).	axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGAGTGCTTCTGTTCCAGCT	0.612000			T	CBFB	AML								86	245					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204002904	204002904	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204002904G>C	ENST00000449802.1	+	29	4831	c.4498G>C	c.(4498-4500)Gaa>Caa	p.E1500Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1500							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGATGTTAGAATGGGCAAT	0.358000													12	32					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73208116C>T	ENST00000245544.4	+	4	391	c.320C>T	c.(319-321)tCa>tTa	p.S107L	NUP85_ENST00000579298.1_Missense_Mutation_p.S107L|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.S61L|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000449421.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	107					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.458000													6	35					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123237989	123237989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:123237989G>A	ENST00000264501.4	+	62	11015	c.10642G>A	c.(10642-10644)Gaa>Aaa	p.E3548K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3548K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3548K			Q2LD37	K1109_HUMAN	KIAA1109	3548					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAACTGAATGAACAGGCCAA	0.353000													13	52					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429171	25429171	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:25429171G>A	ENST00000424208.1	+	0	399					NR_003305.1																						TGGGTCCATGGAAGGCGAGCA	0.572000													4	4					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54163918	54163918	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:54163918G>T	ENST00000404125.1	-	6	797	c.742C>A	c.(742-744)Ctc>Atc	p.L248I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	248					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)			CATTGTGGGAGATTTTGCACT	0.353000													21	56					1.10513e-12	1.16196e-12	1	1	0
NEB	4703	broad.mit.edu	37	2	152468834	152468834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:152468834C>G	ENST00000427231.2	-	78	11873	c.11671G>C	c.(11671-11673)Gag>Cag	p.E3891Q	NEB_ENST00000603639.1_Missense_Mutation_p.E3891Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3891Q|NEB_ENST00000172853.10_Missense_Mutation_p.E3648Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3891Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3648Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3891					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)		TTCACTTTCTCGACCTCTACA	0.438000													7	38					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2581056	2581056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:2581056C>T	ENST00000382350.1	-	1	364	c.19G>A	c.(19-21)Gac>Aac	p.D7N	CEMP1_ENST00000565480.1_Missense_Mutation_p.D7N|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.D7N|AMDHD2_ENST00000565570.1_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	7						cytoplasm				lung(1)|skin(1)	2						TGCTGGCTGTCAGTGCTTGAT	0.617000													16	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071650	9071650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9071650C>T	ENST00000397910.4	-	3	15999	c.15796G>A	c.(15796-15798)Gaa>Aaa	p.E5266K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5268	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCGTCATTTCTGCAGATTTT	0.512000													11	93					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855658	140855658	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140855658G>A	ENST00000308177.3	+	0	79				PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGACCCCGCTGAGAGGAA	0.592000													23	84					0	0	1	0	0
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:46733686G>C	ENST00000437936.1	+	3	258	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	79						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572000													40	145					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796494	127796494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:127796494C>G	ENST00000556132.1	-	6	3541	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q	SOGA3_ENST00000481848.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000525778.1_Missense_Mutation_p.E893Q|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000368268.2_Missense_Mutation_p.E893Q	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	893						integral to membrane											TTGGGCACCTCGAGGCGGTCG	0.657000													39	124					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75567556	75567556	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:75567556G>A	ENST00000603027.1	-	3	1214	c.591C>T	c.(589-591)ctC>ctT	p.L197L	NDST2_ENST00000299641.4_Silent_p.L74L|NDST2_ENST00000309979.6_Silent_p.L197L						197																	GGTAGTCCCGGAGCCCCAAGT	0.577000													17	63					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775109	24775109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24775109G>A	ENST00000221166.5	+	3	2523	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	NEFM_ENST00000518131.1_Missense_Mutation_p.E581K|NEFM_ENST00000433454.2_Missense_Mutation_p.E205K|NEFM_ENST00000437366.2_Missense_Mutation_p.E581K|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	581	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaagccgaagctaaaga	0.502000													5	23					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9546976	9546976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:9546976G>T	ENST00000360635.3	-	8	1486	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.S147Y|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_3'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.S197Y|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.S147Y			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	197	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GGGTTTCTCAGATGTTAATAC	0.368000													18	46					5.3912e-06	5.53136e-06	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115969571	115969571	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:115969571G>C	ENST00000238256.3	-	3	292	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	59					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGTGTTGCCTGATTTCCTGAA	0.428000													48	207					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330240	58330240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:58330240C>T	ENST00000371015.1	+	4	829	c.362C>T	c.(361-363)gCt>gTt	p.A121V	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A80V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A118V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A80V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	121						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTGTAGATGCTGAAAGCAAA	0.537000													13	43					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64542728	64542728	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:64542728C>G	ENST00000357395.3	+	54	11162	c.18C>G	c.(16-18)atC>atG	p.I6M	SYNE2_ENST00000344113.4_Missense_Mutation_p.I3644M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3677M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I278M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3644M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I6M			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3644	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGCGAATCAAGTATTCCG	0.368000													8	19					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121547744	121547744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547744C>G	ENST00000310864.6	-	3	278	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E22Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	22					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		ACATTCTGCTCAGGGCTTTTT	0.348000													8	38					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201019552	201019552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:201019552G>C	ENST00000362061.3	-	34	4432	c.4206C>G	c.(4204-4206)ttC>ttG	p.F1402L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.F1383L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1402	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCTTGAACTCATCCA	0.547000													25	52					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9921757	9921757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:9921757G>A	ENST00000247977.4	-	3	1037	c.796C>T	c.(796-798)Cca>Tca	p.P266S	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P213S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.P213S|FBXL12_ENST00000588922.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	266							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GGCATTTCTGGGGTGACGAGG	0.662000													5	24					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48194939	48194939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48194939C>T	ENST00000330175.4	-	4	648	c.331G>A	c.(331-333)Gag>Aag	p.E111K	SAMD14_ENST00000503131.1_Missense_Mutation_p.E111K|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	111										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCTCGTCCTCGTCCAGGCTG	0.761000													3	9					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56349603	56349603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:56349603C>T	ENST00000548747.1	-	8	2178	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	PMEL_ENST00000536427.1_Missense_Mutation_p.E464K|PMEL_ENST00000550447.1_Missense_Mutation_p.E135K|PMEL_ENST00000449260.2_Missense_Mutation_p.E506K|PMEL_ENST00000548493.1_Missense_Mutation_p.E506K|PMEL_ENST00000360714.4_Missense_Mutation_p.E506K|PMEL_ENST00000550464.1_Missense_Mutation_p.E420K|PMEL_ENST00000539511.1_Missense_Mutation_p.E420K|PMEL_ENST00000552882.1_Missense_Mutation_p.E506K			P40967	PMEL_HUMAN	premelanosome protein	506					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCATCCCCCTCACCGGACGGC	0.537000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	71					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111632423	111632423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:111632423C>G	ENST00000435970.1	-	31	9226	c.8410G>C	c.(8410-8412)Gat>Cat	p.D2804H	REV3L_ENST00000368802.3_Missense_Mutation_p.D2882H|REV3L_ENST00000368805.1_Missense_Mutation_p.D2882H|REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.D2882H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2882					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACTTATATCTCTCGTTTCA	0.348000								DNA polymerases (catalytic subunits)					30	89					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380803	28380803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:28380803G>C	ENST00000394835.3	+	10	2023	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	EFCAB5_ENST00000541045.1_Missense_Mutation_p.E268Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E611Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E555Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E611Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E611Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	611							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTCACGCAGAGAGTCTATTGC	0.478000													54	140					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1008107	1008107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:1008107G>A	ENST00000448903.2	+	18	2533	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	AP2A2_ENST00000332231.5_Missense_Mutation_p.E799K|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	798					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)		CGACTTCACGGAGGCGCCAGT	0.657000													9	19					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121282363	121282363	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:121282363C>A	ENST00000297848.3	+	26	3433	c.3163C>A	c.(3163-3165)Cta>Ata	p.L1055I	COL14A1_ENST00000309791.4_Missense_Mutation_p.L1055I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.L960I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1055	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATCAGCTTTCTATACAGCAC	0.383000													6	36					3.59834e-05	3.66749e-05	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53858606	53858606	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:53858606C>T	ENST00000603815.1	+	9	1004	c.654C>T	c.(652-654)ctC>ctT	p.L218L	PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000439930.3_Silent_p.L218L|PCBP2_ENST00000546463.1_Silent_p.L214L|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000552296.2_Silent_p.L214L|PCBP2_ENST00000541275.1_Silent_p.L214L|PCBP2_ENST00000359462.5_Silent_p.L218L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000455667.3_Intron	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	218					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ccatgtgcctcaaccctgacc	0.582000													20	60					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41174209	41174209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41174209G>T	ENST00000355653.3	-	1	226	c.131C>A	c.(130-132)tCg>tAg	p.S44*	VAT1_ENST00000587173.1_Nonsense_Mutation_p.S44*	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	44						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		cagtggcggcgaggcggcggc	0.756000													3	8					0.00909568	0.00917134	1	1	0
ACP5	54	broad.mit.edu	37	19	11687567	11687567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11687567G>A	ENST00000592828.1	-	5	755	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ACP5_ENST00000218758.5_Missense_Mutation_p.S118F|ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.S118I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATCTGGGCAGAGACATTGCC	0.572000													42	131					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830852	38830852	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:38830852C>G	ENST00000436693.2	-	2	362	c.243G>C	c.(241-243)ttG>ttC	p.L81F	TLR6_ENST00000381950.1_Missense_Mutation_p.L81F	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	81					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGAAAGTCTCAAAACTGTCA	0.373000													14	49					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:17772713G>A	ENST00000581396.1	-	7	798	c.702C>T	c.(700-702)gtC>gtT	p.V234V	TOM1L2_ENST00000478943.1_Silent_p.V17V|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000535933.1_Silent_p.V231V|TOM1L2_ENST00000379504.3_Silent_p.V284V|TOM1L2_ENST00000318094.10_Silent_p.V239V|TOM1L2_ENST00000540946.1_Silent_p.V186V|TOM1L2_ENST00000542206.1_Silent_p.V136V|TOM1L2_ENST00000395739.4_Silent_p.V239V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	284	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527000													20	70					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573148	41573148	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41573148G>T	ENST00000263253.7	+	31	6652	c.5433G>T	c.(5431-5433)caG>caT	p.Q1811H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1811	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACATCAAGCAGAAGCTCCGGC	0.597000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				31	90					1.55811e-20	1.65775e-20	1	1	0
DHH	50846	broad.mit.edu	37	12	49485101	49485101	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49485101C>T	ENST00000266991.2	-	2	681	c.375G>A	c.(373-375)gtG>gtA	p.V125V	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	125					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGCCCTCAGTCACTCGTAGGC	0.597000													32	76					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66890330	66890330	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66890330C>T	ENST00000269080.2	-	21	3037	c.2900G>A	c.(2899-2901)aGa>aAa	p.R967K	ABCA8_ENST00000430352.2_Missense_Mutation_p.R1007K|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1007K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	967						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R967I(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAATGTACTTCTTTCAGTTCG	0.368000													5	25					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668138	94668138	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:94668138C>G	ENST00000260526.6	-	11	1287	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E369Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	369					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CGCTTTTTTTCTAGTTGCTTG	0.393000													29	89					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41006357	41006357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:41006357G>A	ENST00000372699.3	+	3	366	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF684_ENST00000372697.3_Missense_Mutation_p.E39K|ZNF684_ENST00000372696.3_Missense_Mutation_p.E39K|ZNF684_ENST00000493756.1_Intron	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGTGATGTTGGAGAACTATAG	0.433000													34	117					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273593	210273593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:210273593G>C	ENST00000537238.1	+	7	1228	c.837G>C	c.(835-837)caG>caC	p.Q279H	SYT14_ENST00000367019.1_Missense_Mutation_p.Q317H|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Missense_Mutation_p.Q317H|SYT14_ENST00000367015.1_Missense_Mutation_p.Q279H|SYT14_ENST00000472886.1_Missense_Mutation_p.Q317H|SYT14_ENST00000422431.1_Missense_Mutation_p.Q362H|SYT14_ENST00000534859.1_Missense_Mutation_p.Q317H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	317	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAGCATCCAGAGAGGACCAT	0.403000													14	38					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933172	6933172	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:6933172C>G	ENST00000311268.3	+	2	895	c.108C>G	c.(106-108)ctC>ctG	p.L36L	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	36						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGATCATCCTCAGCATCTCGG	0.657000													15	34					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211612	17211612	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:17211612C>T	ENST00000261381.6	-	11	2532	c.2448G>A	c.(2446-2448)ctG>ctA	p.L816L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	816					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.L816L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCAGGCCTCAGGGGCAAGT	0.552000													13	77					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95527162	95527162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:95527162C>A	ENST00000297591.5	-	11	2761	c.2686G>T	c.(2686-2688)Gaa>Taa	p.E896*	KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E896*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E896*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	896					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAGAGGTTCAAGCCACTTG	0.264000													10	14					0.0581538	0.0584292	1	1	0
AKT3	10000	broad.mit.edu	37	1	243727132	243727132	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:243727132C>G	ENST00000366539.1	-	10	1038	c.838G>C	c.(838-840)Gac>Cac	p.D280H	AKT3_ENST00000263826.5_Missense_Mutation_p.D280H|AKT3_ENST00000336199.5_Missense_Mutation_p.D280H|AKT3_ENST00000366540.1_Missense_Mutation_p.D280H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	280	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCATCTTTGTCCAGCATTAGA	0.348000													16	51					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19427037	19427037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:19427037G>A	ENST00000261537.6	+	16	2608	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	782					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TCTCTGTCCTGATCCGAATCT	0.393000													21	55					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681737	144681737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:144681737C>T	ENST00000321385.3	+	1	1664	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L	TIGD5_ENST00000504548.2_Missense_Mutation_p.P555L			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	555					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCTGCCCCCTGCAGCGCCT	0.716000													3	11					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66218798	66218798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66218798C>G	ENST00000273854.3	-	13	2860	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.E732Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.E591Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.E755Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	754	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCATATACTCTGTCACGATC	0.358000										TSP Lung(17;0.13)			14	26					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59770842	59770842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:59770842G>C	ENST00000259008.2	-	18	2791	c.2524C>G	c.(2524-2526)Ctt>Gtt	p.L842V	BRIP1_ENST00000577598.1_Missense_Mutation_p.L842V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	842					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						ACTAGAATAAGAGCTCCCCAA	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					17	44					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200377314	200377314	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:200377314G>C	ENST00000294740.3	-	2	1644	c.1520C>G	c.(1519-1521)tCa>tGa	p.S507*	ZNF281_ENST00000367352.3_Nonsense_Mutation_p.S471*|ZNF281_ENST00000367353.1_Nonsense_Mutation_p.S507*	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACTATTATTTGATACTATGCC	0.373000													26	44					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146275900	146275900	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:146275900C>G	ENST00000367503.3	-	2	957	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	SHPRH_ENST00000438092.2_Missense_Mutation_p.E187Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.E187Q|SHPRH_ENST00000367505.2_Missense_Mutation_p.E187Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	187					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCCAAATCTTCTAACATTTCA	0.363000													15	70					0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108820810	108820810	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:108820810C>T	ENST00000394684.4	+	4	1092	c.535C>T	c.(535-537)Cta>Tta	p.L179L	SGMS2_ENST00000394686.3_Silent_p.L179L|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Silent_p.L179L	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	179					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TGTTACTACTCTACCTGTGCC	0.398000													25	81					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616111	35616111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:35616111C>G	ENST00000310123.3	-	9	2119	c.1600G>C	c.(1600-1602)Gac>Cac	p.D534H	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	534						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAGGTCGATCTCGTGA	0.647000													18	58					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	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													23	37					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828402	72828402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:72828402C>A	ENST00000268489.5	-	9	8851	c.8179G>T	c.(8179-8181)Gag>Tag	p.E2727*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1813*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2727					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATATGAGCCTCAAGAGCAGTC	0.562000													26	87					9.90768e-06	1.01407e-05	1	1	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	8041426	8041426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:8041426G>A	ENST00000439343.2	-	3	258	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Missense_Mutation_p.L27F|BLOC1S5_ENST00000397457.2_Missense_Mutation_p.L91F																							CATTTGGGAAGAGTATGTTCA	0.368000													28	77					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53540288	53540288	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:53540288G>C	ENST00000371500.3	+	6	845	c.504G>C	c.(502-504)gaG>gaC	p.E168D	PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.E187D|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	139					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCTCCCAGAGAAGGCGTTTG	0.607000													62	212					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17781078	17781078	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:17781078G>A	ENST00000378814.5	-	30	3689	c.3690C>T	c.(3688-3690)gtC>gtT	p.V1230V	KIF13A_ENST00000259711.6_Silent_p.V1243V|KIF13A_ENST00000378843.2_Silent_p.V1230V|KIF13A_ENST00000378816.5_Silent_p.V1243V|KIF13A_ENST00000378826.2_Silent_p.V1243V	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1243					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTGTGGTGTGACCCTATTCA	0.448000													18	54					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88822583	88822583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:88822583C>T	ENST00000277865.4	-	6	847	c.751G>A	c.(751-753)Gca>Aca	p.A251T	GLUD1_ENST00000537649.1_Missense_Mutation_p.A84T|GLUD1_ENST00000544149.1_Missense_Mutation_p.A118T	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	251					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAGGCGTGTGCATTAATATCC	0.418000													7	25					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45548494	45548494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr21:45548494G>A	ENST00000291576.7	+	20	2699	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	858						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCACCTGGACGACCTGTCGAA	0.632000													8	36					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000358	16000358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:16000358C>T	ENST00000221700.6	-	7	888	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CYP4F2_ENST00000011989.7_Missense_Mutation_p.D116N	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTGTGAAGTCGTGCACCAGG	0.547000													68	156					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44104156	44104156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:44104156G>C	ENST00000259746.9	+	5	532	c.349G>C	c.(349-351)Gac>Cac	p.D117H	TMEM63B_ENST00000323267.6_Missense_Mutation_p.D117H			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	117						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCTCCGTTGACTTTGACCA	0.577000													18	54					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38449865	38449865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:38449865C>T	ENST00000209728.4	+	5	1289	c.818C>T	c.(817-819)gCa>gTa	p.A273V		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	273					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CATATGACTGCAGAGAAGGGC	0.428000													12	34					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46609643	46609643	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:46609643C>T	ENST00000263734.3	+	15	2877	c.2367C>T	c.(2365-2367)atC>atT	p.I789I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	789					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATCTGCCATCAGTCCCGGGG	0.592000													36	137					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193729	60193729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:60193729G>A	ENST00000267484.5	-	3	2008	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	558					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGAACTCGAGTCTTCTTC	0.622000													9	38					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179050806	179050806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179050806G>A	ENST00000326361.3	+	6	644	c.199G>A	c.(199-201)Gac>Aac	p.D67N	ZNF639_ENST00000484866.1_Missense_Mutation_p.D67N|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.D67N	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	67					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			gacgtcaaatgacttgccaaa	0.363000													2	1					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89777028	89777028	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89777028C>T	ENST00000561976.1	-	9	1391	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	VPS9D1_ENST00000389386.3_Silent_p.L408L					VPS9 domain containing 1																		CCGCGGTCTTCAGCTGCTGCA	0.657000													15	40					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610035	95610035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:95610035C>T	ENST00000395505.2	-	3	1018	c.926G>A	c.(925-927)aGa>aAa	p.R309K	ZNF484_ENST00000332591.6_Missense_Mutation_p.R309K|ZNF484_ENST00000395506.3_Missense_Mutation_p.R347K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R345K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCTGGCATCTGAACAGATC	0.363000													15	47					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463153	62463153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:62463153C>G	ENST00000430451.2	+	1	613	c.416C>G	c.(415-417)tCt>tGt	p.S139C	SYT16_ENST00000446982.2_Missense_Mutation_p.S139C	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	139										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGCTTTCTTCTATTGCGGAG	0.478000													39	119					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179533669	179533669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:179533669G>A	ENST00000467460.1	-	10	1393	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	PEX5L_ENST00000476138.1_Nonsense_Mutation_p.Q312*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.Q320*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.Q353*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.Q163*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.Q331*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.Q296*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	355					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAGGGTCCTGAAGAATTGCT	0.507000													20	68					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147757	43147757	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:43147757G>A	ENST00000522175.2	+	0	132							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACAACATGGGTGCTTGGAG	0.602000													41	113					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153662	45153662	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:45153662C>G	ENST00000296129.1	-	3	702	c.568G>C	c.(568-570)Gaa>Caa	p.E190Q	CDCP1_ENST00000425231.2_Missense_Mutation_p.E190Q	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	190						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTCACTCCTTCTTGCATCTTG	0.537000													41	104					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484270	8484270	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:8484270G>A	ENST00000381196.4	-	27	3805	c.3262C>T	c.(3262-3264)Cgt>Tgt	p.R1088C	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1088C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1088C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R674C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R674C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R667C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1075C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1066C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R677C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R677C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R667C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1088	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTTTCCACGATTTGTCAGC	0.478000										TSP Lung(15;0.13)			20	65					0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82714735	82714735	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:82714735C>G	ENST00000396330.2	-	8	1325		c.e8-1		SNX16_ENST00000353788.4_Splice_Site|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000345957.4_Splice_Site	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16						cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGACAATGTTCTAAAAGTATG	0.368000													5	21					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13427306	13427306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:13427306C>G	ENST00000278174.5	-	7	1151	c.906G>C	c.(904-906)caG>caC	p.Q302H	BTBD10_ENST00000528120.1_Missense_Mutation_p.Q254H|BTBD10_ENST00000530907.1_Missense_Mutation_p.Q310H	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	302						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GTTCCCCACTCTGGGCACTAG	0.428000													44	117					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661773	4661773	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:4661773C>G	ENST00000357605.2	+	1	829	c.753C>G	c.(751-753)ttC>ttG	p.F251L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGGCTTTCAACACCTGCA	0.557000													33	94					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262095	46262095	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:46262095C>T	ENST00000336915.6	-	7	626	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SKAP1_ENST00000584924.1_Missense_Mutation_p.R186H	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	186	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTCATAGCTGCGCCTATCCTG	0.522000													60	136					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133918366	133918366	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:133918366C>T	ENST00000298622.4	+	1	192	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGAGGCCCTCGCGGCGCTGC	0.667000													3	6					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99520266	99520266	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:99520266C>A	ENST00000376460.1	-	29	3171		c.e29-1		DOCK9_ENST00000442173.1_Splice_Site|DOCK9_ENST00000448493.2_Splice_Site|DOCK9_ENST00000339416.2_Splice_Site	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAACATCTCTGTGGAGGAA	0.408000													4	19					0.0215528	0.0216805	1	1	0
TDG	6996	broad.mit.edu	37	12	104377149	104377149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:104377149G>C	ENST00000392872.3	+	7	1008	c.774G>C	c.(772-774)aaG>aaC	p.K258N	TDG_ENST00000544861.1_Missense_Mutation_p.K115N|TDG_ENST00000266775.9_Missense_Mutation_p.K254N|TDG_ENST00000542036.1_Missense_Mutation_p.K54N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	258					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AGCCCCATAAGATTCCAGACA	0.289000								Base excision repair (BER), DNA glycosylases					7	49					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406874	2406874	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:2406874G>A	ENST00000381223.4	-	2	2090	c.1887C>T	c.(1885-1887)gtC>gtT	p.V629V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.V629V|ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381218.3_Silent_p.V629V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	629						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTGGCGCTGACCACGTTGG	0.677000													86	217					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66231707	66231707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:66231707C>A	ENST00000273854.3	-	11	2593	c.1993G>T	c.(1993-1995)Gaa>Taa	p.E665*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E643*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E502*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E666*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	665					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTAGCAAATTCGTGGACAGCT	0.363000										TSP Lung(17;0.13)			21	66					1.2644e-06	1.30596e-06	1	1	0
ANAPC5	51433	broad.mit.edu	37	12	121757561	121757561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121757561G>A	ENST00000261819.3	-	13	1697	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	ANAPC5_ENST00000541887.1_Missense_Mutation_p.H513Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.H414Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.H414Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.H192Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGCCAAATGATATTTGCCA	0.333000													9	16					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465551	70465551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70465551C>T	ENST00000373998.1	-	17	3488	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	ZMYM3_ENST00000373984.3_Missense_Mutation_p.E945K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E945K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E943K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.E943K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	943					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTAACTCCTCAGCCTCTGCA	0.547000													10	12					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	36003428	36003428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36003428G>A	ENST00000349699.2	-	1	65	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586163.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	8						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCGAGCCGGCGAAAGAGATCG	0.637000													12	66					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713821	19713821	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:19713821C>G	ENST00000397821.3	-	5	719	c.429G>C	c.(427-429)aaG>aaC	p.K143N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K143N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K106N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	143	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACATTCCAGTCTTCCCGTTGA	0.483000													31	37					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66423333	66423333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:66423333G>A	ENST00000262139.5	-	11	1134	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Nonsense_Mutation_p.Q297*	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	379					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GCATAAGACTGAGGTAAGGAA	0.502000													21	86					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004382	145004382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145004382C>A	ENST00000322810.4	-	21	3122	c.2953G>T	c.(2953-2955)Gag>Tag	p.E985*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.E826*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E816*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E834*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E875*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E852*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E871*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	985	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGCGGCCTCGCTGCCGGAG	0.716000													5	13					0.184627	0.184845	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48273724	48273724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:48273724G>A	ENST00000435803.1	+	8	897	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	291					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACAGATCCTGAACTCTTCAG	0.502000													26	78					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113627832	113627832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113627832G>A	ENST00000358160.4	+	9	1309	c.817G>A	c.(817-819)Gag>Aag	p.E273K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E106K|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E68K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	273						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCCCAAAATGAGAAACAGAC	0.338000													12	29					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36641826	36641826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36641826G>C	ENST00000316156.4	+	6	1219	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.E293Q|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E293Q			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	293						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGCGCATGGGAGAGCAGCAT	0.667000													9	53					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555347	125555347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:125555347G>C	ENST00000522532.1	+	2	168	c.121G>C	c.(121-123)Gct>Cct	p.A41P	NDUFB9_ENST00000518008.1_Missense_Mutation_p.A41P|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Missense_Mutation_p.A41P			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	41					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CCGATACTTTGCTTGTTTGAT	0.448000													15	67					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38404477	38404477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:38404477C>T	ENST00000207870.3	+	4	350	c.260C>T	c.(259-261)tCt>tTt	p.S87F	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	87					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGACTTCTCTCAAGTCCTA	0.522000													20	90					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41547924	41547924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41547924G>T	ENST00000263253.7	+	15	4124	c.2905G>T	c.(2905-2907)Gag>Tag	p.E969*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	969					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCCATTGCTGAGAAGCAGCC	0.483000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				28	101					2.41591e-17	2.56398e-17	1	1	0
EML1	2009	broad.mit.edu	37	14	100405640	100405640	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:100405640C>G	ENST00000262233.6	+	21	2437	c.2298C>G	c.(2296-2298)ttC>ttG	p.F766L	EML1_ENST00000327921.9_Missense_Mutation_p.F754L|EML1_ENST00000334192.4_Missense_Mutation_p.F785L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	766						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.F785L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCACCTCTTCTCATACCCCT	0.537000													20	67					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155180751	155180751	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:155180751G>A	ENST00000357232.4	-	20	5369	c.5370C>T	c.(5368-5370)agC>agT	p.S1790S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGGTAAATGCTTTGTTCAA	0.408000													11	146					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209805953	209805953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:209805953G>A	ENST00000391911.1	-	7	1186	c.797C>T	c.(796-798)tCt>tTt	p.S266F	LAMB3_ENST00000356082.4_Missense_Mutation_p.S266F|LAMB3_ENST00000367030.3_Missense_Mutation_p.S266F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	266	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGGCCTGCAGAGGCCCCAGG	0.652000													24	53					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21795329	21795329	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:21795329C>G	ENST00000318220.6	+	6	1162	c.114C>G	c.(112-114)ctC>ctG	p.L38L	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Silent_p.L94L|NBPF3_ENST00000342104.5_Silent_p.L94L			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	94						cytoplasm		p.L94L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAGAAACCTCAAACAGAAAT	0.473000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	128					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79970869	79970869	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:79970869C>T	ENST00000265081.6	+	7	1175	c.1095C>T	c.(1093-1095)acC>acT	p.T365T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	365					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACTTCTACCAGCTATCTTC	0.328000								Mismatch excision repair (MMR)					22	65					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821987	64821987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64821987G>A	ENST00000358658.3	-	5	854	c.827C>T	c.(826-828)tCc>tTc	p.S276F	NAALADL1_ENST00000340252.4_Missense_Mutation_p.S276F|NAALADL1_ENST00000355721.3_Missense_Mutation_p.S235F|NAALADL1_ENST00000339885.2_Missense_Mutation_p.S276F|NAALADL1_ENST00000356632.3_Missense_Mutation_p.S276F|NAALADL1_ENST00000355369.2_Missense_Mutation_p.S276F	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	276	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGAAATCCGGAGACATTGGC	0.597000													10	35					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130619	140130619	+	Silent	SNP	C	C	T	rs139559169		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140130619C>T	ENST00000538474.1	+	13	1775	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	SLC34A3_ENST00000361134.2_Silent_p.V517V	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	517					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCCGCTGTCGGGGGTCCCC	0.726000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	31					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96237258	96237258	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:96237258T>G	ENST00000437043.3	+	11	2332	c.1621T>G	c.(1621-1623)Tgg>Ggg	p.W541G	ERAP2_ENST00000379904.4_Missense_Mutation_p.W496G|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	541					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATGACTACATGGACTCTCCA	0.498000													25	76					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74203808	74203808	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:74203808C>G	ENST00000286523.5	-	3	2424	c.1642G>C	c.(1642-1644)Gat>Cat	p.D548H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.D548H	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCGTCCTCATCAAGACCTCCA	0.607000													33	72					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535486	130535486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:130535486G>C	ENST00000532763.1	-	3	394	c.265C>G	c.(265-267)Cga>Gga	p.R89G	SAMD3_ENST00000457563.2_Missense_Mutation_p.R113G|SAMD3_ENST00000439090.2_Missense_Mutation_p.R89G|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R89G|SAMD3_ENST00000368134.2_Missense_Mutation_p.R89G|SAMD3_ENST00000324172.6_Missense_Mutation_p.R89G			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	89										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACTCACTCTCGAGCTGCTTCT	0.423000													34	121					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066917	145066917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:145066917G>A	ENST00000313269.5	+	7	1302	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	GRINA_ENST00000395068.4_Missense_Mutation_p.E342K	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	342						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAGCCCAGAAGAGTATGT	0.562000													11	45					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141272699	141272699	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141272699C>T	ENST00000286364.3	+	6	563	c.528C>T	c.(526-528)caC>caT	p.H176H	RASA2_ENST00000452898.1_Splice_Site_p.H176H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	176	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCTACCTTAGCATCAAGGCAT	0.333000													19	62					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	8926117	8926117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:8926117G>A	ENST00000173229.2	+	2	534	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	NTN1_ENST00000546090.1_Missense_Mutation_p.E143K|NTN1_ENST00000538852.1_Missense_Mutation_p.E143K	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	143	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAAGAAGTTCGAAGTGACCTA	0.607000													7	30					0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173242	33173242	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:33173242C>G	ENST00000374662.3	+	4	433	c.406C>G	c.(406-408)Cag>Gag	p.Q136E	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	136					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CCTAGTCACTCAGGCTGCAGC	0.572000													29	104					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045555	76045555	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:76045555G>A	ENST00000238667.4	+	1	596	c.240G>A	c.(238-240)gtG>gtA	p.V80V	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	80					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGATCAAGGTGAGCAGGCGCC	0.597000													43	141					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275251	62275251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:62275251G>C	ENST00000370053.1	-	3	230	c.149C>G	c.(148-150)tCa>tGa	p.S50*	STMN3_ENST00000540534.1_Nonsense_Mutation_p.S39*	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	50					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GCTCTGGCCTGAGGCCCGCTT	0.627000													31	110					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59466040	59466040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:59466040C>G	ENST00000288235.4	-	21	2638	c.2239G>C	c.(2239-2241)Ggg>Cgg	p.G747R		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	747					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TCTTCCATCCCAATATAATCC	0.458000													55	182					0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99050001	99050001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:99050001G>C	ENST00000436336.2	+	6	669	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000292476.5_Missense_Mutation_p.E170Q|CPSF4_ENST00000451876.1_Missense_Mutation_p.E138Q|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E117Q	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	170					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCTCGATTTGAACTGCCCAT	0.592000													71	243					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553558	27553558	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:27553558G>A	ENST00000544915.1	+	9	1128	c.909G>A	c.(907-909)aaG>aaA	p.K303K	ARNTL2_ENST00000546179.1_Silent_p.K300K|ARNTL2_ENST00000311001.5_Silent_p.K323K|ARNTL2_ENST00000261178.5_Silent_p.K289K|ARNTL2_ENST00000395901.2_Silent_p.K300K|ARNTL2_ENST00000542388.1_Silent_p.K252K|ARNTL2_ENST00000266503.5_Silent_p.K337K|RP11-165P7.1_ENST00000500498.2_RNA	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	337					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGAACAGTAAGAAAGACAACA	0.378000													23	50					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71718466	71718466	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71718466G>A	ENST00000393524.2	-	4	1381	c.648C>T	c.(646-648)ttC>ttT	p.F216F	PHLPP2_ENST00000360429.3_Silent_p.F216F|PHLPP2_ENST00000568954.1_Silent_p.F216F|PHLPP2_ENST00000356272.3_Silent_p.F216F|PHLPP2_ENST00000567016.1_Silent_p.F251F			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	216	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGCTGAGCTGAAAGCAAGGG	0.468000													22	77					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Missense_Mutation	SNP	G	G	C	rs139948292		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:12264384G>C	ENST00000320477.9	+	3	327	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GGACACAGAAGAGTTCTTTCA	0.512000													19	58					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66718772	66718772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:66718772G>A	ENST00000247815.4	+	11	2595	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	846					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATGTAACTGATGTAACTTT	0.328000													18	56					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050816	160050816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:160050816G>A	ENST00000263635.6	+	17	3028	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	TANC1_ENST00000454300.1_Missense_Mutation_p.E825K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	931						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACAGGACAGAAGTGTTAAA	0.517000													24	87					0	0	1	0	0
DUT	1854	broad.mit.edu	37	15	48623792	48623792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:48623792G>C	ENST00000331200.3	+	1	173	c.80G>C	c.(79-81)cGa>cCa	p.R27P	RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000559416.1_Intron|DUT_ENST00000558813.1_Intron|DUT_ENST00000559935.1_Intron|RP11-154J22.1_ENST00000559134.1_RNA	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	27					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CAAAACGCGCGAGGCGCACGG	0.701000								Modulation of nucleotide pools					3	12					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204354725	204354725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:204354725G>A	ENST00000319170.5	-	4	613	c.314C>T	c.(313-315)tCa>tTa	p.S105L	RAPH1_ENST00000453034.1_Missense_Mutation_p.S105L|RAPH1_ENST00000374488.2_Missense_Mutation_p.S105L|RAPH1_ENST00000439222.1_Missense_Mutation_p.S105L|RAPH1_ENST00000418114.1_Missense_Mutation_p.S105L|RAPH1_ENST00000423104.1_Missense_Mutation_p.S105L|RAPH1_ENST00000374489.2_Missense_Mutation_p.S105L|RAPH1_ENST00000374493.3_Missense_Mutation_p.S105L|RAPH1_ENST00000457812.1_Missense_Mutation_p.S105L|RAPH1_ENST00000419464.1_Missense_Mutation_p.S105L|RAPH1_ENST00000308091.4_Missense_Mutation_p.S105L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	105					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTTTCCTGAACCAATGCT	0.443000													32	120					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344284	233344284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:233344284G>A	ENST00000258229.9	-	13	3077	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	PCNXL2_ENST00000430153.1_Missense_Mutation_p.S247L|PCNXL2_ENST00000488780.2_Missense_Mutation_p.S81L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCCCTAGCTGATTGTAGAAA	0.468000													15	41					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:74764516G>T	ENST00000358399.3	+	1	134	c.41G>T	c.(40-42)cGa>cTa	p.R14L	GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701000													18	29					1.33834e-09	1.39764e-09	1	1	0
SH3D19	152503	broad.mit.edu	37	4	152096430	152096430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:152096430G>C	ENST00000409598.4	-	7	1253	c.86C>G	c.(85-87)tCa>tGa	p.S29*	SH3D19_ENST00000514152.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000424281.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000409252.2_Nonsense_Mutation_p.S29*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.S29*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.S29*			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	29					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGGCAGTCCTGAGGTTTCTAT	0.433000													38	122					0	0	1	0	0
LOC643923	643923	broad.mit.edu	37	11	107463110	107463110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:107463110G>A	ENST00000600612.1	+	2	321	c.308G>A	c.(307-309)gGa>gAa	p.G103E	ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR																							CTGTCATTTGGAGAGACCAAT	0.498000													15	27					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201768234	201768234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:201768234G>A	ENST00000409020.1	+	7	1261	c.967G>A	c.(967-969)Gat>Aat	p.D323N	NIF3L1_ENST00000409357.1_Missense_Mutation_p.D323N|NIF3L1_ENST00000359683.4_Missense_Mutation_p.D296N|NIF3L1_ENST00000409588.1_Missense_Mutation_p.M276I|NIF3L1_ENST00000416651.1_Missense_Mutation_p.D323N			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	323					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GTCCCATCATGATACTTTGGA	0.408000													23	68					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33772145	33772145	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:33772145G>A	ENST00000530401.1	-	8	877	c.857C>T	c.(856-858)tCg>tTg	p.S286L	FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.S291L|FBXO3_ENST00000526785.1_Missense_Mutation_p.S178L|FBXO3_ENST00000448981.2_Missense_Mutation_p.S291L|FBXO3_ENST00000532057.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.S291L			Q9UK99	FBX3_HUMAN	F-box protein 3	291	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGGCAGAAACGATGTGGAAAC	0.373000													10	34					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562719	22562719	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:22562719G>A	ENST00000419308.2	-	2	1345	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	FOXA2_ENST00000377115.4_Silent_p.L381L	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	387	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L381L(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGAGGACATGAGGTTGTTGA	0.637000													13	33					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44811174	44811174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:44811174G>A	ENST00000507110.1	+	2	703	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	222					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGTGGTCATCGAAGAGGTCGA	0.373000													15	47					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916386	28916386	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:28916386C>A	ENST00000257192.4	+	9	1287	c.1075C>A	c.(1075-1077)Cat>Aat	p.H359N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	359	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATTTCATCATTCAATTAT	0.343000													5	25					0.184627	0.184845	1	1	0
CDHR5	53841	broad.mit.edu	37	11	624652	624652	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:624652C>T	ENST00000358353.3	-	3	488	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000349570.7_Missense_Mutation_p.E56K|CDHR5_ENST00000397542.2_Missense_Mutation_p.E56K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	56					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCCTGGCCCTCCGGGACGTGG	0.552000													36	127					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60685465	60685465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60685465G>A	ENST00000582809.1	+	22	2291	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	TLK2_ENST00000343388.7_Missense_Mutation_p.E647K|TLK2_ENST00000326270.9_Missense_Mutation_p.E701K|TLK2_ENST00000346027.5_Missense_Mutation_p.E679K|TLK2_ENST00000542523.1_Missense_Mutation_p.E647K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	701	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TAAAGCTACTGAAGTGCAGTT	0.423000													9	28					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68609618	68609618	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:68609618G>A	ENST00000423218.2	-	21	2795	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	ITGA11_ENST00000315757.7_Silent_p.F900F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	900					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCTTGGCCCGGAAGAAGGGAT	0.602000													26	112					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698857	111698857	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:111698857C>T	ENST00000340433.2	+	1	1131	c.901C>T	c.(901-903)Ccg>Tcg	p.P301S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	301							nucleic acid binding|zinc ion binding	p.P301S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTCGAGCTCCGGCAACGAC	0.478000													22	25					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47307990	47307990	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:47307990C>T	ENST00000337137.4	+	8	1087	c.921C>T	c.(919-921)ttC>ttT	p.F307F	TBC1D22A_ENST00000380995.1_Silent_p.F260F|TBC1D22A_ENST00000406733.1_Silent_p.F260F|TBC1D22A_ENST00000355704.3_Silent_p.F229F|TBC1D22A_ENST00000407381.3_Silent_p.F248F	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	307	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGATCTTGTTCATATGGGCGA	0.373000													35	85					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	397158	397158	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:397158C>T	ENST00000380956.4	+	5	669	c.543C>T	c.(541-543)taC>taT	p.Y181Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	181					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGAGGGACTACGTCCCGGATC	0.572000			T	IGH@	MM								42	179					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587730	36587730	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:36587730C>T	ENST00000273183.3	+	11	1458	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STAC_ENST00000457375.2_Silent_p.L325L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	386					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TCAGAGTCCTCAGTGGAAAAA	0.438000													29	88					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48603971	48603971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48603971C>G	ENST00000328333.8	-	112	8437	c.8330G>C	c.(8329-8331)cGa>cCa	p.R2777P	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2745P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2777	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGAGGACCGGC	0.667000													44	142					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992533	159992533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:159992533C>G	ENST00000327245.5	-	26	5159	c.4313G>C	c.(4312-4314)aGa>aCa	p.R1438T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1438					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTGTCCTCTTGAGTAGGC	0.537000													47	116					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911751	12911751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12911751G>A	ENST00000301522.2	-	3	364	c.236C>T	c.(235-237)tCt>tTt	p.S79F	PRDX2_ENST00000334482.5_Missense_Mutation_p.S79F|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.S79F	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	79	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTGAACTGAGAGTCCACCGA	0.587000													6	25					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186320521	186320521	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:186320521G>C	ENST00000367478.4	-	20	2847	c.2551C>G	c.(2551-2553)Cta>Gta	p.L851V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTTCTTTAGATGAGAGATC	0.378000			T	NTRK1	papillary thyroid								13	48					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091483	147091483	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:147091483C>T	ENST00000234739.3	+	8	2262	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	508	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.R508W(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GCACGGGCCTCGGGGAGTGGT	0.567000			T	"""IGH@, IGL@"""	B-ALL								36	152					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265128	265128	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:265128C>T	ENST00000419098.1	-	4	1528	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTTGCCACACTCTTCACATT	0.388000													4	19					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168060	140168060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:140168060G>A	ENST00000504120.2	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTGAGGGTGCGTA	0.642000													24	75					0	0	1	0	0
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:49334843C>T	ENST00000256682.4	-	2	370	c.36G>A	c.(34-36)ctG>ctA	p.L12L	RP11-302B13.5_ENST00000398092.4_Silent_p.L12L|ARF3_ENST00000447318.2_Silent_p.L12L|ARF3_ENST00000541959.1_Silent_p.L12L	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCTTCCCAATCAGGCTCTTGA	0.547000													53	191					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045914	26045914	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:26045914G>A	ENST00000540144.1	+	1	276	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CGGTGATGGCGCTGCAGGAGG	0.582000													22	80					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29367150	29367150	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:29367150G>A	ENST00000558402.1	+	6	1577	c.978G>A	c.(976-978)agG>agA	p.R326R	APBA2_ENST00000561069.1_Silent_p.R326R|APBA2_ENST00000558330.1_Silent_p.R326R|APBA2_ENST00000558259.1_Silent_p.R326R|APBA2_ENST00000411764.1_Silent_p.R326R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	326					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCAGCCAAGGAAGCAGCAGC	0.418000													13	28					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34489432	34489432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:34489432G>C	ENST00000242317.4	+	5	544	c.373G>C	c.(373-375)Gat>Cat	p.D125H	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	125					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCATTACCGCGATGAATTAGT	0.527000									Kartagener syndrome				19	83					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310839	57310839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:57310839G>A	ENST00000457912.1	+	2	778	c.778G>A	c.(778-780)Gag>Aag	p.E260K	SMTNL1_ENST00000399154.2_Intron|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E242K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	242										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGAGGATGCAGAGGAGGCAGT	0.567000													13	55					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256940	7256940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:7256940C>G	ENST00000333751.3	+	1	1733	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	227					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTCCAGGTCTCTGCGCTTTGT	0.592000													18	42					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149206	142149206	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:142149206C>G	ENST00000390372.3	-	0	71																											TTGGGTGACTCCAGCGTCCAC	0.542000													28	96					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789062	80789062	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789062C>T	ENST00000269394.3	-	2	2102	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.T24T|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	423						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCTGGCTCGTCTGCATGA	0.652000													37	110					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8293139	8293139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:8293139C>T	ENST00000307358.2	+	4	955	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	HTRA3_ENST00000382512.3_Missense_Mutation_p.R251W	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	251	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCCGACCTGCGGCCTGGGGA	0.612000													22	105					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210440	37210440	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37210440C>A	ENST00000585696.1	+	3	1951	c.721C>A	c.(721-723)Cag>Aag	p.Q241K	ZNF567_ENST00000536254.2_Missense_Mutation_p.Q272K|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q241K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q241K|ZNF567_ENST00000360729.4_Missense_Mutation_p.Q241K			Q8N184	ZN567_HUMAN	zinc finger protein 567	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTCTGCATCAGGGAATTCA	0.333000													6	22					4.096e-09	4.27223e-09	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61601526	61601526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:61601526C>T	ENST00000583023.1	+	2	114	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000580652.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q35*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	35					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGCCAATGCTCAGATGGAGAA	0.567000													83	275					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891158	2891158	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:2891158G>A	ENST00000254528.3	+	4	1192	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	345					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAACTCATGTGAGTACAAGCT	0.522000													38	123					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26240221	26240221	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:26240221G>C	ENST00000354667.4	-	0	145				HNRNPA2B1_ENST00000356674.7_De_novo_Start_OutOfFrame	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						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						GCTTCAGCCCGATTTCCCGCA	0.577000			T	ETV1	prostate								48	166					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:34376949G>C	ENST00000334295.4	-	7	1149	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TPGS2_ENST00000593035.1_Missense_Mutation_p.S206C|TPGS2_ENST00000383056.3_Missense_Mutation_p.S198C|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000590652.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	241						cytoplasm|microtubule											ATTCACAAAGGAGTCGGTCTC	0.443000													52	143					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544555	39544555	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:39544555G>C	ENST00000318578.3	+	2	587	c.219G>C	c.(217-219)atG>atC	p.M73I	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.M73I	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	73										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGTCAGAAATGACTTTCAGGG	0.423000													66	144					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1639411	1639411	+	Missense_Mutation	SNP	G	G	A	rs141513894	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:1639411G>A	ENST00000409644.1	+	9	5404	c.5404G>A	c.(5404-5406)Gtg>Atg	p.V1802M	WDR81_ENST00000446363.1_Missense_Mutation_p.V441M|WDR81_ENST00000309182.5_Missense_Mutation_p.V751M|WDR81_ENST00000545662.1_Missense_Mutation_p.V433M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.V575M|WDR81_ENST00000437219.2_Missense_Mutation_p.V599M	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	575										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGTAGTGTCGTGGCCGGCTT	0.667000													28	68					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613150	48613150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:48613150C>G	ENST00000328333.8	-	72	5995	c.5888G>C	c.(5887-5889)tGg>tCg	p.W1963S	COL7A1_ENST00000454817.1_Missense_Mutation_p.W1931S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1963	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCTCATCCCAGGTCTCCAC	0.667000													20	89					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124427	76124427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:76124427C>A	ENST00000393004.2	-	2	483	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	FILIP1_ENST00000237172.7_Nonsense_Mutation_p.E88*			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	88				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AACTCCCCTTCCATTATACTG	0.388000													47	145					4.10826e-27	4.38749e-27	1	1	0
MTFP1	51537	broad.mit.edu	37	22	30822740	30822740	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:30822740C>T	ENST00000439838.1	+	7	619	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	MTFP1_ENST00000355143.4_Missense_Mutation_p.L35F|MTFP1_ENST00000407550.3_Missense_Mutation_p.L35F|MTFP1_ENST00000266263.5_Missense_Mutation_p.L35F																							TTTCCGCTCTCTTGTGCCAGC	0.602000											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	58					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393552	145393552	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:145393552C>T	ENST00000511217.1	+	4	1039	c.987C>T	c.(985-987)atC>atT	p.I329I	SH3RF2_ENST00000359120.4_Silent_p.I329I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTCATCAGCTCCAGCA	0.562000													47	142					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679963	3679963	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:3679963G>C	ENST00000294600.2	+	7	1330	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	416	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCCAGCTGGAGGAGTACGA	0.637000													30	71					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121465473	121465473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:121465473C>T	ENST00000257570.5	-	4	1075	c.805G>A	c.(805-807)Gag>Aag	p.E269K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	269					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTCATACTCCAGGAGCAGG	0.438000													34	63					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193855564	193855564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:193855564G>C	ENST00000232424.3	+	4	621	c.385G>C	c.(385-387)Gag>Cag	p.E129Q		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	129	Orange.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GTCCACGTGCGAGGGCGTTAA	0.657000													21	86					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64514790	64514790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64514790G>A	ENST00000164139.3	-	18	2616	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W	PYGM_ENST00000377432.3_Missense_Mutation_p.R652W	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	740					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ATGACCTGCCGAAGCTCAGGA	0.567000													30	63					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22203044	22203044	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:22203044G>A	ENST00000374695.3	-	22	2866	c.2787C>T	c.(2785-2787)gtC>gtT	p.V929V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	929	Laminin EGF-like 5; first part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGGCGACTGACACCCATGC	0.622000													19	52					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28032180	28032180	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:28032180G>C	ENST00000375790.5	-	2	597	c.165C>G	c.(163-165)ctC>ctG	p.L55L	MKX_ENST00000419761.1_Silent_p.L55L			Q8IYA7	MKX_HUMAN	mohawk homeobox	55					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GTCTCAGGCCGAGGTTGTCCT	0.746000													4	22					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151859702	151859702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151859702G>A	ENST00000355193.2	-	43	11178	c.10960C>T	c.(10960-10962)Caa>Taa	p.Q3654*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3654*					lysine (K)-specific methyltransferase 2C																		TCGGCTTGTTGAGGAAGCTCA	0.532000													35	100					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955831	113955831	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:113955831C>T	ENST00000482457.2	-	1	594	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	31						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GAGTCACATTCATGGAGATTG	0.507000													18	90					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848659	73848659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:73848659G>A	ENST00000523207.1	+	3	1657	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	357					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATTTTTTGCTGAGAAGGATGA	0.448000													42	128					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11772015	11772015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:11772015G>C	ENST00000294485.5	+	4	885	c.750G>C	c.(748-750)aaG>aaC	p.K250N		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CCTCTGCAAAGAAGAAAGGTA	0.582000													7	16					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52620683	52620683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:52620683C>T	ENST00000356770.4	-	19	3051	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	PBRM1_ENST00000394830.3_Missense_Mutation_p.E1024K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E1049K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1049K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1064K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1049K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1064K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1024K			Q86U86	PB1_HUMAN	polybromo 1	1049	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGGAAGTTTTCTGGGCATAAC	0.358000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								14	66					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027545	37027545	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:37027545C>G	ENST00000358047.3	+	1	1114	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	354										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCCATCTCTGCCCGGAAC	0.627000													73	50					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141545369	141545369	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:141545369C>G	ENST00000442267.2	-	20	3053	c.2979G>C	c.(2977-2979)aaG>aaC	p.K993N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	993						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATTTGCTCTCTTCCCTACAA	0.353000													5	10					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206882459	206882459	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:206882459G>A	ENST00000403263.1	-	8	1891	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	496					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTCAAAAACTGGCACAGAGCA	0.428000													11	32					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130922009	130922009	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:130922009C>T	ENST00000409031.1	-	10	2067	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_Silent_p.L20L|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000339679.7_Missense_Mutation_p.E194K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E307K|SMPD4_ENST00000452225.2_Silent_p.L20L|SMPD4_ENST00000453750.1_Missense_Mutation_p.E85K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E234K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	268					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCCACATTTCAACAAAAACC	0.433000													15	33					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671659	10671659	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:10671659C>T	ENST00000302079.6	-	51	7934	c.7935G>A	c.(7933-7935)ttG>ttA	p.L2645L	PIEZO2_ENST00000285141.4_Silent_p.L500L|PIEZO2_ENST00000580640.1_Silent_p.L2733L|PIEZO2_ENST00000503781.3_Silent_p.L2708L|PIEZO2_ENST00000538948.1_Silent_p.L665L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2708						integral to membrane	ion channel activity										TGCACAACTTCAAAATTCGAT	0.393000													8	39					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486274	36486274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486274C>T	ENST00000342292.4	-	11	3198	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1060						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCGTCCACATCATTAGCTTCC	0.572000													34	70					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75563842	75563842	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:75563842C>T	ENST00000238616.5	-	17	2292	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	712					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CAAGACAGGTCCGGGACATGA	0.522000													12	45					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719909	1719909	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1719909G>A	ENST00000313871.3	+	5	1706	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	504					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGCCCACCCAGAGGCCGACGG	0.721000													7	32					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111888513	111888513	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:111888513G>A	ENST00000440460.2	+	20	2169	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.V413V	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	625	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGGAGGTGACGTTAAAGG	0.433000													3	15					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	130982830	130982830	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:130982830C>G	ENST00000307968.7	-	16	3290	c.3291G>C	c.(3289-3291)ctG>ctC	p.L1097L	FNIP1_ENST00000307954.8_Silent_p.L1080L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.L1125L	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGCCCCCTCAGGTATTCAG	0.468000													34	128					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683407	6683407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:6683407G>A	ENST00000321535.4	+	2	350	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	74										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACATGCATCTGAAGTTGAGTC	0.463000													34	112					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2946264	2946264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:2946264C>T	ENST00000380574.1	+	11	1543	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000312221.5_Missense_Mutation_p.S371F|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S371F|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S273F			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	371					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTGCGCCTCTGTACAACCA	0.652000													35	103					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43294805	43294805	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:43294805G>A	ENST00000290650.4	-	32	3685	c.3607C>T	c.(3607-3609)Ctg>Ttg	p.L1203L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1203					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.L1203V(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTATTGCACAGAGATTTGCAA	0.373000													14	72					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	31024573	31024573	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:31024573C>T	ENST00000298139.5	+	34	4267	c.4018C>T	c.(4018-4020)Cct>Tct	p.P1340S		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1340					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATGTTAGTTCCTGAAAACAT	0.343000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				18	35					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73725400	73725400	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:73725400C>T	ENST00000200181.3	+	7	808	c.621C>T	c.(619-621)atC>atT	p.I207I	ITGB4_ENST00000579662.1_Silent_p.I207I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.I207I|ITGB4_ENST00000449880.2_Silent_p.I207I|ITGB4_ENST00000339591.3_Silent_p.I207I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	207	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAACGTCATCAGCCTGACAG	0.597000													19	79					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079487	10079487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:10079487C>T	ENST00000382452.2	-	13	1741	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	WDR1_ENST00000382451.2_Missense_Mutation_p.E347K|WDR1_ENST00000502702.1_Missense_Mutation_p.E347K|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.E487K	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	487					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCTTGGCCTCTAGGAGCTTG	0.642000													7	26					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117988106	117988106	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:117988106G>A	ENST00000534111.1	+	12	1498	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	TMPRSS4_ENST00000522824.1_Silent_p.P408P|TMPRSS4_ENST00000522307.1_Silent_p.P266P|TMPRSS4_ENST00000523251.1_Silent_p.P373P|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000437212.3_Silent_p.P413P	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	413	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCGGGGGCCCGAGCACCCCAG	0.572000													48	163					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084635	100084635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:100084635C>T	ENST00000423930.1	+	3	419	c.260C>T	c.(259-261)tCg>tTg	p.S87L	NYAP1_ENST00000300179.2_Missense_Mutation_p.S87L|NYAP1_ENST00000454988.1_Missense_Mutation_p.S30L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	87																	TCCTGCCACTCGGTGGGCAGC	0.711000													7	34					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052131	132052131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:132052131C>T	ENST00000286355.5	-	1	2541	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	150					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R150Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATGACCCCTCGGTAGCTATA	0.577000										HNSCC(32;0.087)			17	29					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197157303	197157303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:197157303C>T	ENST00000260983.3	-	14	3168	c.2986G>A	c.(2986-2988)Gat>Aat	p.D996N	HECW2_ENST00000409111.1_Missense_Mutation_p.D640N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.|WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCTGGTGATCATGTTTCATT	0.552000													29	84					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72649680	72649680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:72649680C>G	ENST00000273951.8	-	1	399	c.56G>C	c.(55-57)aGa>aCa	p.R19T	GC_ENST00000513476.1_Missense_Mutation_p.R19T|GC_ENST00000504199.1_Missense_Mutation_p.R38T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	19	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AATCTTACCTCTCTCTAAAGC	0.363000													16	44					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945714	4945714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:4945714G>A	ENST00000345988.2	-	10	1065	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	PPL_ENST00000590782.2_Missense_Mutation_p.H324Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	326					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.H326Y(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTCTTCGTGAAACTAGGGG	0.582000													38	97					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239769	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24239769G>A	ENST00000338315.4	+	4	402	c.402G>A	c.(400-402)ctG>ctA	p.L134L	MFSD2B_ENST00000406420.3_Silent_p.L134L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	134					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCA	0.672000													20	78					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62533747	62533747	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:62533747G>A	ENST00000556440.2	+	20	2826	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L	CEP95_ENST00000553412.1_Silent_p.L608L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	772						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAGGGAGCTGAGATCTAAGA	0.453000													12	26					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58128216	58128216	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:58128216G>A	ENST00000184956.6	-	15	2428	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	HEATR6_ENST00000585976.1_Silent_p.F692F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	804							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)			GCAGATTGCTGAAGGCCTCTG	0.502000													15	51					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167159651	167159651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:167159651C>T	ENST00000303354.6	-	7	1193	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	SCN9A_ENST00000409435.1_Missense_Mutation_p.E284K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E284K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E285K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	284						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTAATGTTTCATTATTTTCA	0.343000													6	17					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26697287	26697287	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:26697287G>C	ENST00000226218.4	-	0	556				TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_De_novo_Start_InFrame|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCTCCGCTCTGATGCCTGAGG	0.597000													16	36					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113507724	113507724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:113507724C>T	ENST00000505019.1	-	13	3918	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGCACAGCTCAGAGCCACTT	0.353000													8	47					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242368	113242368	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:113242368G>A	ENST00000369644.1	+	19	3506	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	MOV10_ENST00000413052.2_Missense_Mutation_p.R882Q|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R882Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R882Q			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCACCGTGCGAAGCAGCCAG	0.552000													54	171					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800989	12800989	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:12800989G>C	ENST00000380339.3	-	6	945	c.909C>G	c.(907-909)ctC>ctG	p.L303L	FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Silent_p.L293L			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	303							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCAGCCCATGAGAGCATCCC	0.612000													15	19					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44395417	44395417	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:44395417G>T	ENST00000406477.3	+	2	205	c.75G>T	c.(73-75)agG>agT	p.R25S		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.498000													35	105					8.73648e-17	9.26613e-17	1	1	0
PHF3	23469	broad.mit.edu	37	6	64389966	64389966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:64389966G>A	ENST00000262043.3	+	3	650	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PHF3_ENST00000393387.1_Missense_Mutation_p.E104K|PHF3_ENST00000509330.1_Missense_Mutation_p.E104K			Q92576	PHF3_HUMAN	PHD finger protein 3	104					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCATTGATGAAGAAGAACT	0.333000													15	74					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	926275	926275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:926275G>A	ENST00000407192.1	+	2	2662	c.145G>A	c.(145-147)Gac>Aac	p.D49N	GET4_ENST00000265857.3_Missense_Mutation_p.D102N			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	102					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGGTGGCTGACGAGCTGCT	0.607000													30	76					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10483090	10483090	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:10483090G>A	ENST00000396554.3	+	2	392	c.51G>A	c.(49-51)ctG>ctA	p.L17L	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	8					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TTCCCAAGCTGAACATCTCTG	0.537000													49	166					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1499937	1499937	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:1499937C>G	ENST00000331035.4	+	11	1351	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L	IL3RA_ENST00000381469.2_Silent_p.L256L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	334						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAGAGACTCTTTCCCCGCA	0.537000													95	279					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15718642	15718642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:15718642G>A	ENST00000396368.3	-	10	2460	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q609*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q430*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q751*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	751						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACCAAGACTGAGATGCGAGC	0.423000													28	97					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77746776	77746776	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:77746776C>T	ENST00000261534.4	-	16	1886	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	562					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GACGTGAACTCATTGTCCTTG	0.532000													30	64					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42828958	42828958	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:42828958C>G	ENST00000301204.3	+	15	1512	c.1471C>G	c.(1471-1473)Cga>Gga	p.R491G		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	491						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)				TGGCCCCCTTCGAGACCTCTG	0.716000													8	27					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34065903	34065903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:34065903G>T	ENST00000397527.1	+	17	2791	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E691*|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	691	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAGAAGGAAGAAATTCAAAA	0.433000													4	36					0.014758	0.0148631	1	1	0
HAT1	8520	broad.mit.edu	37	2	172803292	172803292	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:172803292C>G	ENST00000264108.4	+	3	213	c.177C>G	c.(175-177)ctC>ctG	p.L59L	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	59					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCATCAACTCTTTGGGGATG	0.264000													16	37					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419000	46419000	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:46419000C>T	ENST00000458649.2	-	18	4315	c.3897G>A	c.(3895-3897)taG>taA	p.*1299*	AMBRA1_ENST00000533727.1_Silent_p.*1180*|AMBRA1_ENST00000298834.3_Silent_p.*1239*|AMBRA1_ENST00000314845.3_Silent_p.*1209*|AMBRA1_ENST00000426438.1_Silent_p.*1270*|AMBRA1_ENST00000528950.1_Silent_p.*1270*|AMBRA1_ENST00000534300.1_Silent_p.*1239*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	0					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGTTTGTCTCTACCTGTTCC	0.592000													31	95					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121547358	121547358	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:121547358C>T	ENST00000310864.6	-	4	436	c.222G>A	c.(220-222)caG>caA	p.Q74Q	IQCB1_ENST00000349820.6_Silent_p.Q74Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	74					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCCAACCACCCTGGATTCGAG	0.363000													16	50					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98087257	98087257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:98087257G>A	ENST00000419175.1	+	7	1077	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	DNTT_ENST00000371174.2_Missense_Mutation_p.V303M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	303	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGTCAGCTGTGTGACCAGGGC	0.517000													73	188					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548985	23548985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23548985G>C	ENST00000262710.1	-	6	2060	c.1733C>G	c.(1732-1734)tCt>tGt	p.S578C	ACIN1_ENST00000605057.1_Missense_Mutation_p.S520C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S538C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S578C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	578	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGACCGGCTAGAGGATGAATC	0.498000													26	131					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151492649	151492649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:151492649C>G	ENST00000271636.7	+	3	1014	c.881C>G	c.(880-882)tCa>tGa	p.S294*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	288	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTTCAAATCAACTCCAGAC	0.468000													9	41					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23899054	23899054	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:23899054G>A	ENST00000355349.3	-	12	1230	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	356	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAAAGTGCATGATGGCGCCTG	0.562000													34	99					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441842	37441842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:37441842C>G	ENST00000415168.1	+	5	1971	c.1595C>G	c.(1594-1596)tCt>tGt	p.S532C	ZNF568_ENST00000333987.7_Missense_Mutation_p.S596C|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTTCTCAGTGCTCA	0.403000													19	72					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139865267	139865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:139865267C>T	ENST00000297183.6	+	13	2216	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P698S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P698S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCAGTTCCCACCACAGA	0.383000													19	41					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337072	162337072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:162337072G>C	ENST00000493151.1	+	2	2818	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	NOS1AP_ENST00000361897.5_Missense_Mutation_p.E446Q|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E441Q	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	446	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCGCAGGGCGAGGCGCTCCT	0.667000													17	56					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50753332	50753332	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:50753332C>G	ENST00000413817.3	-	10	848	c.777G>C	c.(775-777)ctG>ctC	p.L259L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		GCATATGAGTCAGCACAGGCC	0.672000													12	36					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328358	141328358	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:141328358G>A	ENST00000286364.3	+	22	2357	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K	RASA2_ENST00000452898.1_Silent_p.K775K|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	774					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGCTGCAGAAGATGGAAGGTA	0.313000													16	27					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24801006	24801006	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:24801006C>T	ENST00000310677.4	-	5	770	c.657G>A	c.(655-657)gaG>gaA	p.E219E	ADCY4_ENST00000418030.2_Silent_p.E219E|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Silent_p.E219E	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	219					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGTGCTTCTTCTCGGTGTCCA	0.637000													11	27					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15602891	15602891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:15602891C>G	ENST00000424120.1	+	37	4960	c.4706C>G	c.(4705-4707)tCt>tGt	p.S1569C	CC2D2A_ENST00000389652.5_Missense_Mutation_p.S1461C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.S1569C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.S1569C			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1569					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATGCCTTATTCTGAAGTGAAG	0.333000													6	14					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80708323	80708323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80708323G>C	ENST00000300784.7	+	6	684	c.622G>C	c.(622-624)Gag>Cag	p.E208Q		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	208					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGTGGCCTAGAGATTGTCCC	0.582000													34	102					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13135824	13135824	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:13135824G>T	ENST00000358552.3	+	1	14	c.14G>T	c.(13-15)tGc>tTc	p.C5F	NFIX_ENST00000360105.4_Intron|NFIX_ENST00000587260.1_Missense_Mutation_p.C5F|NFIX_ENST00000588228.1_Intron|NFIX_ENST00000585575.1_Intron|NFIX_ENST00000397661.2_Intron|NFIX_ENST00000592199.1_Intron|NFIX_ENST00000587760.1_Intron			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	6					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCCCGGCTTGCCGCCTGCAG	0.632000													4	6					0.0215528	0.0216805	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30913193	30913193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:30913193G>C	ENST00000383096.3	-	10	1006	c.824C>G	c.(823-825)tCt>tGt	p.S275C	CCDC178_ENST00000300227.8_Missense_Mutation_p.S275C|CCDC178_ENST00000583930.1_Missense_Mutation_p.S275C|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.S275C|CCDC178_ENST00000406524.2_Missense_Mutation_p.S275C|CCDC178_ENST00000579947.1_Missense_Mutation_p.S275C|CCDC178_ENST00000402325.1_Missense_Mutation_p.S275C					coiled-coil domain containing 178																		ATTCTGCTTAGAGTCCAGTAG	0.328000													9	40					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26176157	26176157	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:26176157C>G	ENST00000335473.7	+	9	2453	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	MYO18B_ENST00000536101.1_Missense_Mutation_p.Q735E|MYO18B_ENST00000407587.2_Missense_Mutation_p.Q735E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	735	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACAGCTGCTCAGCTCCAGGT	0.657000													6	22					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4574817	4574817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:4574817C>T	ENST00000301396.4	-	17	3967	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N	PELP1_ENST00000436683.2_Missense_Mutation_p.D880N|PELP1_ENST00000269230.7_Missense_Mutation_p.D1014N|PELP1_ENST00000574876.1_Missense_Mutation_p.D1104N|PELP1_ENST00000572293.1_Missense_Mutation_p.D1154N			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1104					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGCTGTGTCATCCTGCTCC	0.512000													7	33					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94278072	94278072	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:94278072C>G	ENST00000515393.1	-	4	1040	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	MCTP1_ENST00000429576.2_Silent_p.L126L|MCTP1_ENST00000312216.8_Silent_p.L126L|MCTP1_ENST00000505208.1_Silent_p.L126L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	347					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCAATTGTGTCAGATCCAGAA	0.413000													18	45					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227204633	227204633	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:227204633C>G	ENST00000366769.3	-	32	5920	c.4629G>C	c.(4627-4629)caG>caC	p.Q1543H	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1523H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1578H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1515H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1543H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1556H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1462H	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1556					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTACCTCCTCTGCTGCATCC	0.398000													15	48					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88694373	88694373	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:88694373G>C	ENST00000301011.5	+	15	2515	c.2315G>C	c.(2314-2316)aGg>aCg	p.R772T	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R796T	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	772						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAGCGGAAAAGGGATTCGTCC	0.547000													35	96					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985056	64985056	+	RNA	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:64985056C>T	ENST00000525437.1	+	0	569							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCAGCTTCGGGGGCCGCC	0.602000													13	27					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980182	13980182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:13980182C>T	ENST00000261643.3	+	3	385	c.308C>T	c.(307-309)tCa>tTa	p.S103L	COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Missense_Mutation_p.S103L|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	103					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AGACCTCTCTCACCGCCCAGC	0.428000													11	61					0	0	1	0	0
HIST1H4L	8368	broad.mit.edu	37	6	27840978	27840978	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:27840978C>A	ENST00000355981.2	-	1	311	c.311G>T	c.(310-312)tGa>tTa	p.*104L		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	0					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GTAAAACACTCAGCCGCCAAA	0.512000													9	57					2.17888e-05	2.22209e-05	1	1	0
ITSN2	50618	broad.mit.edu	37	2	24524067	24524067	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:24524067G>A	ENST00000355123.4	-	11	1480	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ITSN2_ENST00000406921.3_Missense_Mutation_p.S346L|ITSN2_ENST00000361999.3_Missense_Mutation_p.S346L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	346					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGATATGAAGGCAGAGT	0.338000													17	35					0	0	1	0	0
RPS28	6234	broad.mit.edu	37	19	8386542	8386542	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:8386542C>T	ENST00000600659.2	+	2	73	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	14					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										TCCTCCAGGTCACCAAGGTCC	0.637000													6	18					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179526245	179526245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:179526245G>A	ENST00000367615.4	-	5	723	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	219					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ATAGTGGTTTGCACAAGGAAT	0.423000													8	41					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140051410	140051410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140051410G>C	ENST00000371561.3	+	6	1986	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	GRIN1_ENST00000350902.5_Missense_Mutation_p.E297Q|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000371555.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000371560.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000371546.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000371550.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000371553.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000315048.3_Missense_Mutation_p.E297Q	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	297					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGAGCTCCTCGAGAAGGAGAA	0.682000													13	26					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36698504	36698504	+	Silent	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:36698504C>G	ENST00000399881.3	+	16	1723	c.1686C>G	c.(1684-1686)ctC>ctG	p.L562L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	562						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGTCCCTCTTTACGGATG	0.403000													15	39					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151802337	151802337	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:151802337G>A	ENST00000434507.1	+	7	1031	c.594G>A	c.(592-594)ttG>ttA	p.L198L	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Silent_p.L198L|GALNT11_ENST00000452146.2_Silent_p.L117L|GALNT11_ENST00000320311.2_Silent_p.L198L			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	198	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGATGATTTGAAAGGAGAAC	0.328000													10	44					0	0	1	0	0
VPS29	51699	broad.mit.edu	37	12	110933819	110933819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:110933819C>T	ENST00000549578.1	-	2	258	c.193G>A	c.(193-195)Gag>Aag	p.E65K	VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.E97K|VPS29_ENST00000360579.7_Missense_Mutation_p.E69K	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	65					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TACATCACCTCATCGAAGTCT	0.403000													24	50					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70338683	70338683	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chrX:70338683C>G	ENST00000333646.6	+	1	278	c.79C>G	c.(79-81)Cag>Gag	p.Q27E	MED12_ENST00000374080.3_Missense_Mutation_p.Q27E|MED12_ENST00000374102.1_Missense_Mutation_p.Q27E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	27					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTTTACCCTCAGGACCCCAA	0.677000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						12	14					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131030767	131030767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131030767C>T	ENST00000421699.2	-	3	256	c.244G>A	c.(244-246)Gat>Aat	p.D82N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D70N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	82						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACGGTGTCATCAGATGGTTGT	0.592000													11	35					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18249902	18249902	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:18249902C>G	ENST00000397239.3	-	7	1189	c.742G>C	c.(742-744)Gat>Cat	p.D248H	DEK_ENST00000244776.7_Missense_Mutation_p.D214H	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	248	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTCTTTATCTTCATCATCT	0.333000			T	NUP214	AML								7	23					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486362	36486362	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:36486362C>A	ENST00000342292.4	-	11	3110	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1030						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGAGGGCCCTCCAGAGCCTGG	0.602000													28	77					1.2476e-16	1.32241e-16	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43924477	43924477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:43924477G>A	ENST00000282406.4	+	7	780	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	224						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGTTCACTGAAGGAAAAGA	0.358000													15	44					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767007	23767007	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:23767007G>A	ENST00000300113.2	+	2	516	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	31	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGCTCCGCCTGCACCACCGGT	0.637000													22	87					0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48046847	48046847	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:48046847C>T	ENST00000240306.3	+	1	310	c.15C>T	c.(13-15)ccC>ccT	p.P5P	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Silent_p.P5P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	5				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCTCTTTGCCCTGCCCCCTCC	0.677000													39	164					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21453131	21453131	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr18:21453131C>T	ENST00000269217.6	+	1	328	c.123C>T	c.(121-123)ccC>ccT	p.P41P	LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000587184.1_Silent_p.P41P	NM_000227.3	NP_000218.2	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					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)	TTCAGCCTCCCGGTCAAAGTC	0.522000													56	150					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849480	98849480	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr12:98849480G>A	ENST00000554295.1	-	0	1443					NR_033801.1																						ATCGTGTGTTGAAAATTCCAG	0.532000													5	40					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382527	108382527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:108382527G>A	ENST00000265843.4	-	6	3817	c.3707C>T	c.(3706-3708)tCt>tTt	p.S1236F	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1160F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1229F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1048F	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1236					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAGAAACAGAAAACGTACT	0.373000													19	61					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789532	80789532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:80789532C>G	ENST00000269394.3	-	2	1632	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	267						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTCACACTCAGGCGAGCTC	0.612000													38	118					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220046485	220046485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:220046485G>A	ENST00000430297.2	+	8	1139	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	335						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGACTGATGTCTCCGA	0.577000													21	88					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515056	131515056	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:131515056G>A	ENST00000291900.2	-	5	1225	c.819C>T	c.(817-819)ctC>ctT	p.L273L		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	273					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCTGCACAAAGAGGCTCAGCA	0.557000													13	70					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37458641	37458641	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:37458641C>G	ENST00000234170.5	-	1	215	c.70G>C	c.(70-72)Gat>Cat	p.D24H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	24					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCGTCCGGATCTTCTACTGCC	0.602000													34	103					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513766	41513766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr22:41513766C>T	ENST00000263253.7	+	2	1889	c.670C>T	c.(670-672)Cag>Tag	p.Q224*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	224					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGAGCCTCTTCAGCAGGGCTC	0.532000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				16	34					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414278	213414278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:213414278G>A	ENST00000366960.3	+	11	1609	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E475K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E275K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E190K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	487					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCAACCAGGAAGATGATGG	0.413000													20	71					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30880497	30880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:30880497G>A	ENST00000454381.3	-	9	941	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	GADL1_ENST00000282538.5_Missense_Mutation_p.H299Y			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	299					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACATCTACATGAAGCCAGAGG	0.418000													4	65					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273377	145273377	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:145273377G>C	ENST00000369340.3	+	4	675	c.231G>C	c.(229-231)ctG>ctC	p.L77L	NOTCH2NL_ENST00000344859.3_Silent_p.L77L|RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000362074.6_Silent_p.L77L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	77	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACCTTGCCTGAATGGCGGCA	0.532000													40	574					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139503	3139503	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:3139503G>A	ENST00000252463.2	-	5	1854	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	ZSCAN10_ENST00000538082.2_Silent_p.S507S|ZSCAN10_ENST00000575108.1_Silent_p.S250S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	589					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGGCGCTCTGGCTGAAGCCCT	0.697000													10	43					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47868907	47868907	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:47868907C>T	ENST00000446256.2	+	6	650	c.78C>T	c.(76-78)ctC>ctT	p.L26L	DHX30_ENST00000457607.1_Silent_p.L93L|DHX30_ENST00000348968.4_Silent_p.L37L|DHX30_ENST00000445061.1_Silent_p.L65L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	65						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGAGCCCTCGGCATCTCAC	0.418000													23	59					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088739	42088739	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:42088739G>T	ENST00000244020.3	+	4	554	c.448G>T	c.(448-450)Gta>Tta	p.V150L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	150	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAATGAGGGTGTAATTGAGTT	0.428000													13	61					2.27111e-07	2.35148e-07	1	1	0
MED13	9969	broad.mit.edu	37	17	60140470	60140470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:60140470C>T	ENST00000397786.2	-	2	335	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	87					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGGGTCTTCACCCCACCAA	0.418000													28	69					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396271	139396271	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:139396271G>A	ENST00000277541.6	-	30	5642	c.5567C>T	c.(5566-5568)tCt>tTt	p.S1856F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1856					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCATGGCAGACATGCGCAG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			14	47					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740098	133740098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:133740098G>A	ENST00000356838.3	-	6	707	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Nonsense_Mutation_p.Q208*	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	208						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACTGGGACTGAAGAGACAAG	0.463000													38	112					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319120	155319120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:155319120C>T	ENST00000368346.3	-	19	8206	c.7567G>A	c.(7567-7569)Gag>Aag	p.E2523K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2518K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2523	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAATACCTCAGCATTCCGA	0.378000													15	44					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997647	101997647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr13:101997647C>G	ENST00000251127.6	-	7	850	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	NALCN_ENST00000376196.3_Missense_Mutation_p.E257Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	257						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E257*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCCAGCTCTTGCCTGCTA	0.418000													45	107					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36475127	36475127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:36475127C>G	ENST00000373191.4	+	9	1430	c.1081C>G	c.(1081-1083)Cag>Gag	p.Q361E	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.Q127E	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AACAGACAATCAGACTTCCAC	0.343000													13	40					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41610076	41610076	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr17:41610076G>A	ENST00000319349.5	-	8	1075	c.777C>T	c.(775-777)atC>atT	p.I259I	ETV4_ENST00000591713.1_Silent_p.I259I|ETV4_ENST00000545954.1_Silent_p.I220I|ETV4_ENST00000538265.1_Silent_p.I220I|ETV4_ENST00000393664.2_Silent_p.I259I|ETV4_ENST00000545089.1_Silent_p.I205I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	259					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTTCCTGTTTGATCACCACCC	0.587000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								31	98					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527044	3527044	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:3527044C>A	ENST00000441788.2	+	6	690	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	FZR1_ENST00000395095.3_Missense_Mutation_p.P152T|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	152					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTGTCTCCCGTCAGCAA	0.642000													32	112					6.05902e-23	6.45459e-23	1	1	0
OR6B3	150681	broad.mit.edu	37	2	240984886	240984886	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr2:240984886G>C	ENST00000319423.4	-	1	603	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGAAGGCCAGAATGAAATCC	0.577000													15	71					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103266703	103266703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:103266703C>T	ENST00000520539.1	-	59	8833	c.8227G>A	c.(8227-8229)Gaa>Aaa	p.E2743K	UBR5_ENST00000518205.1_Missense_Mutation_p.E471K|UBR5_ENST00000521922.1_Missense_Mutation_p.E2736K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2742K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2743	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCTTCTTCACTGGCTGGC	0.418000													15	46					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558333	11558333	+	Missense_Mutation	SNP	C	C	T	rs142627856		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr19:11558333C>T	ENST00000252455.2	+	11	1265	c.929C>T	c.(928-930)tCg>tTg	p.S310L	PRKCSH_ENST00000591462.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000589838.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000587327.1_Missense_Mutation_p.S310L	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	310					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GTGCCCTCGTCGCCCACAgag	0.657000													6	35					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086160	56086160	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:56086160C>T	ENST00000312711.1	+	1	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTGGCCATCTGTAACCCTC	0.413000													20	62					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:50769684G>A	ENST00000433963.1	+	11	1706	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	USP8_ENST00000396444.3_Silent_p.K402K|USP8_ENST00000425032.3_Silent_p.K325K|USP8_ENST00000307179.4_Silent_p.K402K			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.373000													20	81					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015047	161015047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:161015047G>A	ENST00000447678.1	-	23	3692	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F	LPA_ENST00000316300.5_Missense_Mutation_p.S1191F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3699	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAGGACCAAGACTGACATGT	0.498000													34	84					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27294520	27294520	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:27294520C>G	ENST00000376087.4	-	34	5297	c.5132G>C	c.(5131-5133)tGa>tCa	p.*1711S	ANKRD26_ENST00000436985.2_Nonstop_Mutation_p.*1727S|ANKRD26_ENST00000376070.3_Nonstop_Mutation_p.*1268S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	0						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTTATCTTTCAGATCATATA	0.279000													17	55					0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601337	55601337	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:55601337C>G	ENST00000457326.2	+	1	754	c.669C>G	c.(667-669)ttC>ttG	p.F223L	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	223	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TTCGTGCCTTCAAGTCTCTGG	0.443000													58	153					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3213724	3213724	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:3213724G>A	ENST00000355072.5	+	48	6628	c.6483G>A	c.(6481-6483)aaG>aaA	p.K2161K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2161					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCCAGAAGAGTGCCCTTT	0.532000													26	94					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437939	140437939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:140437939C>G	ENST00000406427.1	-	6	787	c.451G>C	c.(451-453)Gac>Cac	p.D151H	PNPLA7_ENST00000277531.4_Missense_Mutation_p.D126H	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTCTTCACGTCAAACTCCGTG	0.597000													43	106					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109713	98109713	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr3:98109713G>C	ENST00000383695.1	+	1	204	c.204G>C	c.(202-204)ctG>ctC	p.L68L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCTAGTTCTGATGGATTCCT	0.398000													52	209					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203667470	203667470	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:203667470G>A	ENST00000357681.5	+	3	1502	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E127K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E127K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	127					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGCTGGTGAAGAAAATGA	0.488000													27	76					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134060783	134060783	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr5:134060783G>A	ENST00000398844.2	+	23	3569	c.3281G>A	c.(3280-3282)tGa>tAa	p.*1094*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	0					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	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAATAAATGAATGAATGAA	0.308000													6	18					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354358	118354358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118354358G>C	ENST00000528052.1	+	5	518	c.447G>C	c.(445-447)caG>caC	p.Q149H	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.Q149H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.Q149H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	149					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTGGCCCAGATGCTCGACA	0.587000													11	49					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:88247959G>A	ENST00000357081.3	-	14	1777	c.1633C>T	c.(1633-1635)Caa>Taa	p.Q545*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.Q505*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.Q383*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.Q557*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGGCTGTTTGAGAAGGAATA	0.423000													15	56					0	0	1	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600699	22600699	+	RNA	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr14:22600699G>A	ENST00000390456.3	+	0	50																											GTTGCAGGAGGAACCAGAACC	0.463000													18	42					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45811142	45811142	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:45811142G>C	ENST00000372086.3	-	11	1486	c.1086C>G	c.(1084-1086)atC>atG	p.I362M	TESK2_ENST00000341771.6_Missense_Mutation_p.I333M|TESK2_ENST00000538496.1_Missense_Mutation_p.I279M|TESK2_ENST00000372084.1_Missense_Mutation_p.I333M|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	362					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GAGACAGCCAGATGGTACGTC	0.537000													15	57					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98186463	98186463	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:98186463G>C	ENST00000306031.5	-	6	629	c.503C>G	c.(502-504)tCt>tGt	p.S168C	DPYD_ENST00000423006.2_Intron|DPYD_ENST00000370192.3_Intron|DPYD_ENST00000474241.1_5'UTR	NM_001160301.1	NP_001153773	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	0					'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			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)	ATTCATTAAAGAGAAAGCCAG	0.353000													6	18					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811727	24811727	+	RNA	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:24811727C>G	ENST00000221169.5	-	0	1731							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAAAGCCATCTTCACGTTGA	0.393000													36	139					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669725	119669725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:119669725C>G	ENST00000368468.3	-	2	947	c.506G>C	c.(505-507)aGa>aCa	p.R169T	MAN1A1_ENST00000368466.2_Missense_Mutation_p.R169T	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	169					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGCAGGCCTCTGAACGGCGC	0.632000													28	99					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9111371	9111371	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:9111371C>G	ENST00000457346.2	-	2	213	c.139G>C	c.(139-141)Gat>Cat	p.D47H	SCUBE2_ENST00000520467.1_Missense_Mutation_p.D47H|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D47H|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D47H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	47	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACACTCATCTACATCTGCA	0.597000													27	106					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73437306	73437306	+	Silent	SNP	G	G	A			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:73437306G>A	ENST00000224721.6	+	15	1628	c.1623G>A	c.(1621-1623)cgG>cgA	p.R541R	CDH23_ENST00000299366.7_Silent_p.R581R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	536	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCATTGCCCGGGACGGGGGCG	0.602000													8	18					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33439105	33439105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr20:33439105C>T	ENST00000336431.5	-	13	1698	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	552					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CAGAGCCCCTCCGCGGGTCGG	0.622000													28	67					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702903	154702903	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr4:154702903C>T	ENST00000274063.4	-	3	872	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	196	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTTTTATTTTCAGTGCTATGA	0.458000													30	98					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610277	71610277	+	Silent	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:71610277G>C	ENST00000355962.4	-	2	175	c.42C>G	c.(40-42)ctC>ctG	p.L14L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	14					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GAATTGAGGGGAGGTTGCCTT	0.527000													20	76					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	C	T			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr9:99795232C>T	ENST00000259470.5	-	8	1253	c.1004G>A	c.(1003-1005)tGa>tAa	p.*335*	CTSV_ENST00000538255.1_Silent_p.*335*	NM_001333.3	NP_001324.2			cathepsin V																		TCCATCAGCTCACACATTGGG	0.468000													11	51					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72558264	72558264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr15:72558264G>C	ENST00000569795.1	-	5	837	c.150C>G	c.(148-150)atC>atG	p.I50M	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.I50M|PARP6_ENST00000260376.7_Missense_Mutation_p.I50M			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	50							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCTCACTGTAGATCTCCTTCA	0.498000													15	56					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													5	3	---	---	---	---					
HLA-A	3105	broad.mit.edu	37	6	29910640	29910640	+	Frame_Shift_Del	DEL	C	C	-	rs75855780	byFrequency	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:29910640delC	ENST00000396634.1	+	4	521	c.180delC	c.(178-180)ttcfs	p.F60fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.F60fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	60	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCGTGCGGTTCGACAGCGACG	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			19	68	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653003	30653003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr6:30653003delA	ENST00000274853.3	-	1	2669	c.793delT	c.(793-795)tcafs	p.S265fs	PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.S265fs|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	265						cytoplasm|cytoskeleton	actin binding										TCTTCTCCTGACCTCAGCCTC	0.522													9	396	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72280990	72280991	+	RNA	DEL	AC	AC	-	rs6960315		TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr7:72280990_72280991delAC	ENST00000438904.2	-	0	531				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										gtgtgtgtgtacgtgtgtgtgc	0.381													9	85	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68150658	68150658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:68150658delG	ENST00000262215.3	-	22	3598	c.3209delC	c.(3208-3210)tctfs	p.S1070fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.S524fs|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1070					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTGTTCCAGAAATGTATCG	0.398													15	49	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113504853	113504853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr8:113504853delT	ENST00000297405.5	-	31	5387	c.5143delA	c.(5143-5145)atgfs	p.M1715fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.M1675fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.M1611fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.M1715fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1715	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATAATCCATTCCAAGTCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	83	---	---	---	---					
EIF4EBP2	1979	broad.mit.edu	37	10	72179690	72179691	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:72179690_72179691delAG	ENST00000373218.4	+	2	189_190	c.166_167delAG	c.(166-168)agafs	p.R56fs		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	56					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CATTTATGACAGAAAGTTTCTG	0.421													29	112	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													6	7	---	---	---	---					
MYEOV	26579	broad.mit.edu	37	11	69063227	69063257	+	Frame_Shift_Del	DEL	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	GGTGACCGGGAGAGAAACAAGGGAGACAAGG	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	ENST00000535407.1	+	2	779_809	c.136_166delGGTGACCGGGAGAGAAACAAGGGAGACAAGG	c.(136-168)ggtgaccgggagagaaacaagggagacaagggtfs	p.GDRERNKGDKG46fs	MYEOV_ENST00000308946.3_Frame_Shift_Del_p.GDRERNKGDKG104fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.GDRERNKGDKG104fs			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	104								p.R106M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC	0.636													17	154	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89348573	89348573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3WW-01A-22D-A23M-08	TCGA-DK-A3WW-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08aa63b7-bc56-419b-b07b-a3fabf2463f2	daddf34c-2e30-4c6e-8895-6a84a389f760	g.chr16:89348573delC	ENST00000301030.4	-	9	4837	c.4377delG	c.(4375-4377)aagfs	p.K1461fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.K1461fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1461	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)		ctctcttcttcttctctttTA	0.468													30	76	---	---	---	---					
