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
ZNF718	255403	broad.mit.edu	37	4	155318	155318	+	RNA	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:155318A>C	ENST00000510175.1	+	0	753							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGCACAAAAATACTACAAAT	0.363000													5	29					0	0	0.001168	0	0
AGO2	27161	broad.mit.edu	37	8	141583013	141583013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:141583013C>T	ENST00000220592.5	-	3	346	c.234G>A	c.(232-234)atG>atA	p.M78I	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Missense_Mutation_p.M78I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AGTGCTGGACCATGTGTTCCA	0.443000													5	64					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167085246	167085246	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167085246C>T	ENST00000375387.4	-	22	4504	c.4164G>A	c.(4162-4164)gtG>gtA	p.V1388V	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.V1388V|SCN9A_ENST00000409672.1_Silent_p.V1376V|SCN9A_ENST00000409435.1_Silent_p.V1387V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1387						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)	TATCAAAGTTCACTTTCAGGT	0.398000													5	127					0	0	0.001168	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256429	15256429	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:15256429C>T	ENST00000378116.4	-	8	1164	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	386						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCGGGGGCCTCGGGGCGGC	0.607000													9	38					0	0	0.004482	0	0
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577000			Mis		DLBCL								9	112					0	0	0.008291	0	0
LILRB5	10990	broad.mit.edu	37	19	54758820	54758820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54758820G>A	ENST00000450632.1	-	6	1083	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	LILRB5_ENST00000449561.2_Nonsense_Mutation_p.Q345*|LILRB5_ENST00000345866.6_Nonsense_Mutation_p.Q245*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.Q345*			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	345					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCATGACTGACACAGCAGG	0.567000													4	41					0	0	0.009096	0	0
OR10G7	390265	broad.mit.edu	37	11	123909323	123909323	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123909323A>T	ENST00000330487.5	-	1	394	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTGTACCTGAGCGGGTAACT	0.557000													24	106					0	0	0.003330	0	0
OR6T1	219874	broad.mit.edu	37	11	123813876	123813876	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:123813876T>A	ENST00000321252.2	-	1	704	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGAGAACAGTGGCAAGAATG	0.532000													6	32					0	0	0.001168	0	0
HCN1	348980	broad.mit.edu	37	5	45262226	45262226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262226C>T	ENST00000303230.4	-	8	2527	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	824						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGCCCGTTCCGGGGACCGCC	0.677000													4	36					0	0	0.000602	0	0
XRN1	54464	broad.mit.edu	37	3	142095375	142095375	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:142095375T>A	ENST00000264951.4	-	24	2894	c.2777A>T	c.(2776-2778)tAc>tTc	p.Y926F	XRN1_ENST00000392981.2_Missense_Mutation_p.Y926F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	926					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAAACAAGGTATCCACTCAC	0.323000													3	8					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153577354	153577354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:153577354C>A	ENST00000422373.1	-	47	8031	c.7783G>T	c.(7783-7785)Gag>Tag	p.E2595*	FLNA_ENST00000369856.3_Nonsense_Mutation_p.E736*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2603*|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2563*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2595*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2603	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGATCTCCTCGCAGGGG	0.637000													9	26					0.000274275	0.000315226	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179406266	179406266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179406266C>T	ENST00000589042.1	-	350	97762	c.97538G>A	c.(97537-97539)cGt>cAt	p.R32513H	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23640H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29945H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23573H|TTN_ENST00000460472.2_Missense_Mutation_p.R23448H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30872H|RP11-65L3.4_ENST00000604692.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30872	Ig-like 143.						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)			CATGCCATCACGGGAAACATC	0.458000													6	16					0	0	0.001168	0	0
NUDT1	4521	broad.mit.edu	37	7	2289541	2289541	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:2289541G>A	ENST00000397049.1	+	4	373	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	NUDT1_ENST00000343985.4_Missense_Mutation_p.G91S|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G68S|NUDT1_ENST00000356714.1_Missense_Mutation_p.G68S|NUDT1_ENST00000397046.1_Missense_Mutation_p.G68S|NUDT1_ENST00000397048.1_Missense_Mutation_p.G91S	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	109	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCACAAGGTGGGCCAGATCGT	0.652000								Modulation of nucleotide pools					14	86					0	0	0.003163	0	0
FOLH1	2346	broad.mit.edu	37	11	49196483	49196483	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:49196483A>C	ENST00000340334.7	-	10	1389	c.1021T>G	c.(1021-1023)Tac>Gac	p.Y341D	FOLH1_ENST00000256999.2_Missense_Mutation_p.Y356D|FOLH1_ENST00000533034.1_Missense_Mutation_p.Y341D|FOLH1_ENST00000343844.4_Missense_Mutation_p.Y48D|FOLH1_ENST00000356696.3_Missense_Mutation_p.Y356D|FOLH1_ENST00000525629.1_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	356	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCACATTGTAAATTCTTGTC	0.348000													7	39					0	0	0.003080	0	0
PHF2	5253	broad.mit.edu	37	9	96421880	96421880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:96421880G>T	ENST00000359246.4	+	11	1694	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	443					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGGCTCAGTGAGGTGGGGCC	0.617000													12	14					3.03607e-14	4.27634e-14	0.001368	1	0
NPSR1	387129	broad.mit.edu	37	7	34867159	34867159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:34867159C>A	ENST00000360581.1	+	5	753	c.625C>A	c.(625-627)Cca>Aca	p.P209T	NPSR1_ENST00000381542.1_Missense_Mutation_p.P143T|NPSR1_ENST00000381539.3_Missense_Mutation_p.P209T|NPSR1_ENST00000359791.1_Missense_Mutation_p.P209T|NPSR1_ENST00000531252.1_Missense_Mutation_p.P198T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	209						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACTGGACCCCATACATGAC	0.577000													12	130					1.49906e-05	1.80432e-05	0.002450	1	0
SNW1	22938	broad.mit.edu	37	14	78189553	78189553	+	Silent	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:78189553C>G	ENST00000261531.7	-	11	1163	c.1101G>C	c.(1099-1101)cgG>cgC	p.R367R	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.R367R|SNW1_ENST00000554775.1_Silent_p.R205R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	367					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGGAAAGATTCCGGTCATGCT	0.507000													13	80					0	0	0.002450	0	0
MPPED2	744	broad.mit.edu	37	11	30557637	30557637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:30557637C>A	ENST00000448418.2	-	3	574	c.214G>T	c.(214-216)Ggt>Tgt	p.G72C	MPPED2_ENST00000358117.5_Missense_Mutation_p.G72C	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	72					nervous system development		hydrolase activity|metal ion binding	p.G72C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATCTGGATACCATCTGTTCTG	0.502000													13	21					4.3838e-07	5.55953e-07	0.001855	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43825133	43825133	+	Splice_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:43825133A>T	ENST00000389420.3	-	22	3261		c.e22+1		ADAMTS20_ENST00000553158.1_Splice_Site|ADAMTS20_ENST00000395541.2_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20							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)		TCATATACTCACAGGACCCCA	0.388000													12	48					0	0	0.001855	0	0
MMP21	118856	broad.mit.edu	37	10	127461230	127461230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:127461230C>T	ENST00000368808.3	-	3	786	c.787G>A	c.(787-789)Gac>Aac	p.D263N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	263			D -> E (in dbSNP:rs34811493).		proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTGCTCGTCGTCGTCAAAG	0.622000													10	50					0	0	0.008291	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886812	47886812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:47886812C>G	ENST00000396105.1	-	3	1783	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E513Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E513Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	513							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTAGGCCTCAAAGTATGCA	0.522000													5	58					0	0	0.000602	0	0
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408000													4	53					0	0	0.009096	0	0
TRPS1	7227	broad.mit.edu	37	8	116426524	116426524	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116426524T>C	ENST00000395715.3	-	7	4189	c.3612A>G	c.(3610-3612)gtA>gtG	p.V1204V	TRPS1_ENST00000520276.1_Silent_p.V1195V|TRPS1_ENST00000519076.1_Silent_p.V945V|TRPS1_ENST00000220888.5_Silent_p.V1191V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1191	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCATTTTTTACATTTGGTG	0.423000									Langer-Giedion syndrome				13	42					0	0	0.001368	0	0
TLL1	7092	broad.mit.edu	37	4	166924542	166924542	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:166924542G>C	ENST00000061240.2	+	6	1279		c.e6-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTATTCCAGATGCTGCTCC	0.418000													7	52					0	0	0.004482	0	0
CRNN	49860	broad.mit.edu	37	1	152382721	152382721	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:152382721G>A	ENST00000271835.3	-	3	899	c.837C>T	c.(835-837)agC>agT	p.S279S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	279	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAGCCTGGCTGGTCTGGC	0.607000													55	437					0	0	0.003610	0	0
PDE5A	8654	broad.mit.edu	37	4	120528141	120528141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:120528141A>T	ENST00000354960.3	-	2	783	c.464T>A	c.(463-465)tTa>tAa	p.L155*	PDE5A_ENST00000394439.1_Nonsense_Mutation_p.L103*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.L113*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	155					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATCCTTCACTAATTCCAAGAG	0.438000													5	40					0	0	0.000602	0	0
RRP8	23378	broad.mit.edu	37	11	6622800	6622800	+	Missense_Mutation	SNP	C	C	T	rs142207265	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:6622800C>T	ENST00000254605.6	-	3	613	c.496G>A	c.(496-498)Gat>Aat	p.D166N	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	166					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TTTGGTGGATCATTTGTAGTA	0.512000													6	78					0	0	0.001168	0	0
NUAK2	81788	broad.mit.edu	37	1	205290688	205290688	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:205290688C>A	ENST00000367157.3	-	1	195	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	23					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)			GCCCTTCCGCCAGCGGCCGGG	0.682000													8	52					0.00307968	0.00339791	0.003080	1	0
OR4A15	81328	broad.mit.edu	37	11	55136241	55136241	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:55136241C>A	ENST00000314706.3	+	1	882	c.882C>A	c.(880-882)ccC>ccA	p.P294P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P294P(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACTTTTCCCATTGATAAAT	0.403000													38	135					1.07637e-12	1.4907e-12	0.004878	1	0
PTCH1	5727	broad.mit.edu	37	9	98241374	98241374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:98241374G>A	ENST00000430669.2	-	8	1510	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	PTCH1_ENST00000429896.2_Missense_Mutation_p.H224Y|PTCH1_ENST00000375274.2_Missense_Mutation_p.H374Y|PTCH1_ENST00000421141.1_Missense_Mutation_p.H224Y|PTCH1_ENST00000437951.1_Missense_Mutation_p.H309Y|PTCH1_ENST00000331920.6_Missense_Mutation_p.H375Y|PTCH1_ENST00000418258.1_Missense_Mutation_p.H224Y			Q13635	PTC1_HUMAN	patched 1	375					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCTTGAAGTGCTCGTACATT	0.537000													9	51					0	0	0.006214	0	0
ITGA4	3676	broad.mit.edu	37	2	182347286	182347286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:182347286G>T	ENST00000397033.2	+	9	1379	c.949G>T	c.(949-951)Gca>Tca	p.A317S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	317					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGACCTCAATGCAGATGGCTT	0.498000													21	191					2.32416e-17	3.31593e-17	0.002299	1	0
OR13C5	138799	broad.mit.edu	37	9	107361392	107361392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107361392C>T	ENST00000374779.2	-	1	396	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCTGAGGAACATCTGCACTG	0.517000													8	110					0	0	0.008291	0	0
PUM1	9698	broad.mit.edu	37	1	31532134	31532134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:31532134C>A	ENST00000373747.3	-	2	379	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	PUM1_ENST00000426105.2_Missense_Mutation_p.G94W|PUM1_ENST00000424085.2_Missense_Mutation_p.G94W|PUM1_ENST00000373741.4_Missense_Mutation_p.G130W|PUM1_ENST00000423018.2_Missense_Mutation_p.G94W|PUM1_ENST00000257075.5_Missense_Mutation_p.G94W|PUM1_ENST00000373742.2_Missense_Mutation_p.G130W|PUM1_ENST00000440538.2_Missense_Mutation_p.G94W	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	94					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCCTCCCCCAAGCTGCTCA	0.507000													16	43					7.07596e-05	8.33503e-05	0.006122	1	0
STAG2	10735	broad.mit.edu	37	X	123179212	123179212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:123179212C>A	ENST00000371160.1	+	8	951	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	STAG2_ENST00000371157.3_Missense_Mutation_p.L221M|STAG2_ENST00000371145.3_Missense_Mutation_p.L221M|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L221M|STAG2_ENST00000371144.3_Missense_Mutation_p.L221M|STAG2_ENST00000354548.5_Missense_Mutation_p.L152M			Q8N3U4	STAG2_HUMAN	stromal antigen 2	221					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACAAGCACCCTGGCAGGTCG	0.328000													20	99					1.96292e-10	2.68482e-10	0.010504	1	0
BTN3A1	11119	broad.mit.edu	37	6	26410240	26410240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26410240G>C	ENST00000289361.6	+	7	1312	c.944G>C	c.(943-945)aGa>aCa	p.R315T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R263T|BTN3A1_ENST00000425234.2_Missense_Mutation_p.R315T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R315T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	315					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCAGGATGGAGAAGTATCCAG	0.463000													6	177					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90166906	90166906	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:90166906G>C	ENST00000268138.7	+	20	3470	c.3365G>C	c.(3364-3366)aGa>aCa	p.R1122T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.R1121T					TOPBP1-interacting checkpoint and replication regulator																		ACTACACCAAGAAGGATCTCT	0.413000													5	168					0	0	0.000602	0	0
SCN3A	6328	broad.mit.edu	37	2	165997469	165997469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:165997469G>A	ENST00000360093.3	-	13	2202	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R571C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R571C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	571						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)	TTGCTATTGCGTCTTGGGGAA	0.443000													6	45					0	0	0.001168	0	0
PLK3	1263	broad.mit.edu	37	1	45270044	45270044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:45270044A>T	ENST00000372201.4	+	12	1615	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	459						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCCAGCCAGAGCCTCTGGTG	0.617000													33	115					0	0	0.003271	0	0
UMOD	7369	broad.mit.edu	37	16	20347991	20347991	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:20347991T>A	ENST00000396134.2	-	10	2021	c.1898A>T	c.(1897-1899)aAc>aTc	p.N633I	UMOD_ENST00000570689.1_Missense_Mutation_p.N600I|UMOD_ENST00000396138.4_Missense_Mutation_p.N649I|UMOD_ENST00000396142.2_Missense_Mutation_p.N600I|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Missense_Mutation_p.N600I|UMOD_ENST00000424589.1_Missense_Mutation_p.N633I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGACCCAAGTTCAGGACACG	0.527000													18	31					0	0	0.002780	0	0
ASXL3	80816	broad.mit.edu	37	18	31323805	31323805	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:31323805T>A	ENST00000269197.5	+	12	3993	c.3993T>A	c.(3991-3993)agT>agA	p.S1331R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1331	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						GCAGTGCTAGTAACTTAGTCT	0.463000													56	99					0	0	0.003610	0	0
ZNF618	114991	broad.mit.edu	37	9	116779005	116779005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116779005G>T	ENST00000288466.7	+	10	848	c.749G>T	c.(748-750)gGc>gTc	p.G250V	ZNF618_ENST00000374126.5_Missense_Mutation_p.G262V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAATTCTGCGGCAAACAGTAC	0.552000													4	22					0.000602214	0.000684993	0.000602	1	0
TRPC5	7224	broad.mit.edu	37	X	111078148	111078148	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:111078148C>T	ENST00000262839.2	-	7	2815		c.e7+1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTACTCACGGCAATAAGC	0.448000													29	127					0	0	0.006320	0	0
OPA1	4976	broad.mit.edu	37	3	193372741	193372741	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:193372741A>T	ENST00000361510.2	+	22	2337	c.2103A>T	c.(2101-2103)tcA>tcT	p.S701S	OPA1_ENST00000392438.3_Silent_p.S646S|OPA1_ENST00000361828.2_Silent_p.S664S|OPA1_ENST00000361715.2_Silent_p.S665S|OPA1_ENST00000361150.2_Silent_p.S647S|OPA1_ENST00000361908.3_Silent_p.S683S	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	646			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCATGAATTCAGGAACTTTTA	0.363000													4	9					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:126411587C>A	ENST00000394329.3	+	17	13623	c.13610C>A	c.(13609-13611)cCc>cAc	p.P4537H	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					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						GCCAAAAATCCCAAAGAGGAG	0.527000													6	58					0.00116845	0.00130661	0.001168	1	0
TTC40	54777	broad.mit.edu	37	10	134648863	134648863	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:134648863C>T	ENST00000368586.5	-	47	6789	c.6689G>A	c.(6688-6690)cGg>cAg	p.R2230Q	TTC40_ENST00000263170.5_Missense_Mutation_p.R391Q	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	391										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTCTGCTTCCGGAACTGCTG	0.637000													7	62					0	0	0.001984	0	0
CHD8	57680	broad.mit.edu	37	14	21871246	21871246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:21871246C>A	ENST00000399982.2	-	17	3708	c.3644G>T	c.(3643-3645)gGt>gTt	p.G1215V	CHD8_ENST00000557364.1_Missense_Mutation_p.G1215V|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G936V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1215	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGATTAATACCAAGTCCACC	0.478000													8	46					0.000274275	0.000315226	0.004482	1	0
IRF5	3663	broad.mit.edu	37	7	128588302	128588302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:128588302C>T	ENST00000402030.2	+	8	1243	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	IRF5_ENST00000473745.1_Missense_Mutation_p.P391S|IRF5_ENST00000357234.5_Missense_Mutation_p.P407S|IRF5_ENST00000249375.4_Missense_Mutation_p.P391S|IRF5_ENST00000477535.1_Missense_Mutation_p.P305S	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	391					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CAACACCCCACCACCCTTCGA	0.537000													28	87					0	0	0.006320	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306881	28306881	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:28306881G>T	ENST00000284987.5	-	4	1714	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	531	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCAGCTTCTTGGTCAGACAGA	0.542000													7	52					2.0095e-06	2.50054e-06	0.001984	1	0
MRPS5	64969	broad.mit.edu	37	2	95766250	95766250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:95766250C>A	ENST00000272418.2	-	10	1108	c.900G>T	c.(898-900)agG>agT	p.R300S		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGATATGCGTCCTTTTAAATC	0.333000													15	44					7.93312e-07	9.98427e-07	0.002450	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858580	149858580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:149858580C>A	ENST00000331380.2	+	1	56	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	19					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAGTCGCGCTCGTCCCGCGCT	0.637000													7	168					1.76689e-08	2.30253e-08	0.006214	1	0
KIF21A	55605	broad.mit.edu	37	12	39763916	39763916	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:39763916G>A	ENST00000395670.3	-	2	611	c.192C>T	c.(190-192)atC>atT	p.I64I	KIF21A_ENST00000541463.2_Silent_p.I64I|KIF21A_ENST00000544797.2_Silent_p.I64I|KIF21A_ENST00000361961.3_Silent_p.I64I|KIF21A_ENST00000361418.5_Silent_p.I64I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	64	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGAATGTAGATCTGCTCTT	0.378000													10	51					0	0	0.006214	0	0
AOC3	8639	broad.mit.edu	37	17	41004733	41004733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:41004733C>T	ENST00000308423.2	+	1	1533	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	458					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTGCGGAAACGGTGCTGGTC	0.527000													10	82					0	0	0.008291	0	0
DGKA	1606	broad.mit.edu	37	12	56333946	56333946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:56333946G>T	ENST00000331886.5	+	10	1244	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	DGKA_ENST00000551156.1_Missense_Mutation_p.D264Y|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.D264Y	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	264					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTCGGAAGGACATTGGTGT	0.572000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	60					2.48551e-13	3.47132e-13	0.004990	1	0
LHX9	56956	broad.mit.edu	37	1	197886998	197886998	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197886998C>T	ENST00000367387.4	+	1	470	c.45C>T	c.(43-45)ttC>ttT	p.F15F	LHX9_ENST00000337020.2_Silent_p.F15F|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000606127.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367390.3_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	15					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGTGTCCTTTCCGCCCCCCAG	0.592000													6	155					0	0	0.001168	0	0
RYK	6259	broad.mit.edu	37	3	133930409	133930409	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:133930409T>C	ENST00000296084.4	-	4	390	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	130	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GGCATATCCATTGCCAAAACA	0.373000											OREG0015812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31					0	0	0.009096	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337806	42337806	+	Nonsense_Mutation	SNP	C	C	A	rs55708136		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:42337806C>A	ENST00000262418.6	-	6	606	c.451G>T	c.(451-453)Gag>Tag	p.E151*	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	151					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGCTCCTCTCGGTCCTGA	0.607000													9	19					1.12685e-05	1.36625e-05	0.004482	1	0
PPP1R12C	54776	broad.mit.edu	37	19	55607673	55607673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:55607673G>A	ENST00000263433.3	-	7	997	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R254W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R328W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	328						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCTGGCCCCGGCTCTGGGAA	0.647000													25	95					0	0	0.005443	0	0
NFYC	4802	broad.mit.edu	37	1	41215346	41215346	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:41215346C>T	ENST00000372652.1	+	4	547	c.279C>T	c.(277-279)cgC>cgT	p.R93R	NFYC_ENST00000447388.3_Silent_p.R93R|NFYC_ENST00000372651.1_Silent_p.R93R|NFYC_ENST00000440226.3_Silent_p.R93R|NFYC_ENST00000372653.1_Silent_p.R93R|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000425457.2_Silent_p.R93R|NFYC_ENST00000456393.2_Silent_p.R93R|NFYC_ENST00000372654.1_Silent_p.R93R|NFYC_ENST00000308733.5_Silent_p.R93R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	93					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ATAACAAGCGCCGGACTCTAC	0.473000													32	55					0	0	0.009535	0	0
EXD1	161829	broad.mit.edu	37	15	41482169	41482169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:41482169C>T	ENST00000314992.5	-	9	1038	c.848G>A	c.(847-849)cGc>cAc	p.R283H	EXD1_ENST00000458580.2_Missense_Mutation_p.R341H	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGACCCTTCGCGATACGTGTT	0.542000													11	73					0	0	0.001368	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820269	35820269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:35820269C>A	ENST00000399992.1	+	3	151	c.52C>A	c.(52-54)Ccc>Acc	p.P18T	MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCATTGCCTGCCCTCCTGTCC	0.522000													11	41					3.86212e-05	4.58194e-05	0.008291	1	0
EIF4G2	1982	broad.mit.edu	37	11	10822547	10822547	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:10822547C>T	ENST00000526148.1	-	15	2011	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.A501T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.A501T|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.A463T	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	501					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGTGGTTGTGCACTAGGAGGA	0.418000													8	63					0	0	0.004482	0	0
PPARD	5467	broad.mit.edu	37	6	35388010	35388010	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:35388010C>G	ENST00000311565.4	+	5	586	c.237C>G	c.(235-237)gaC>gaG	p.D79E	PPARD_ENST00000444397.1_Missense_Mutation_p.D79E|PPARD_ENST00000360694.3_Missense_Mutation_p.D79E|PPARD_ENST00000337400.2_Missense_Mutation_p.D79E|PPARD_ENST00000448077.2_Missense_Mutation_p.D40E|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	79				D -> G (in Ref. 5; BAF84350).	apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGCGGGGACAAGGCATCGG	0.652000													5	59					0	0	0.000602	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890126	156890126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:156890126C>A	ENST00000311946.7	+	2	364	c.248C>A	c.(247-249)tCc>tAc	p.S83Y	NIPAL4_ENST00000435489.2_Missense_Mutation_p.S83Y|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000521390.1_3'UTR	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	83						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTCTACTGCTCCTCCCAAGAA	0.512000													9	78					1.58986e-06	1.99335e-06	0.008291	1	0
DSCAM	1826	broad.mit.edu	37	21	41416149	41416149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:41416149C>A	ENST00000400454.1	-	31	5716	c.5239G>T	c.(5239-5241)Gcc>Tcc	p.A1747S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1747					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)				CACTGGCTGGCATAGCGGTTT	0.597000													10	32					3.86212e-05	4.58194e-05	0.008291	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:9190395G>A	ENST00000382496.5	-	11	1922	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		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	419	Sema.				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						CCAAATAGATGATGTGGACGA	0.498000													5	34					0	0	0.001168	0	0
TEX13B	56156	broad.mit.edu	37	X	107224449	107224449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:107224449C>T	ENST00000302917.1	-	3	892	c.800G>A	c.(799-801)tGt>tAt	p.C267Y		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	267										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGGAGCTGGACAGGAAGAGGC	0.537000													21	127					0	0	0.001882	0	0
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398000										HNSCC(59;0.17)			9	48					0	0	0.000978	0	0
INADL	10207	broad.mit.edu	37	1	62367102	62367102	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:62367102G>A	ENST00000371158.2	+	24	3466	c.3352G>A	c.(3352-3354)Gca>Aca	p.A1118T	INADL_ENST00000316485.6_Missense_Mutation_p.A1118T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1118	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.A1118T(1)		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						GAAGACGAACGCACTTAAAAC	0.343000													4	20					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153577355	153577355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:153577355C>A	ENST00000422373.1	-	47	8030	c.7782G>T	c.(7780-7782)gaG>gaT	p.E2594D	FLNA_ENST00000369856.3_Missense_Mutation_p.E735D|FLNA_ENST00000369850.3_Missense_Mutation_p.E2602D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.E2562D|FLNA_ENST00000360319.4_Missense_Mutation_p.E2594D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2602	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGATCTCCTCGCAGGGGG	0.637000													9	26					0.000274275	0.000315226	0.004482	1	0
GPR112	139378	broad.mit.edu	37	X	135455108	135455108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:135455108G>T	ENST00000394143.1	+	15	7952	c.7661G>T	c.(7660-7662)gGg>gTg	p.G2554V	GPR112_ENST00000370652.1_Missense_Mutation_p.G2554V|GPR112_ENST00000412101.1_Missense_Mutation_p.G2349V|GPR112_ENST00000394141.1_Missense_Mutation_p.G2349V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2352V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2554					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGTTTTCTGGGCAGATAGCA	0.488000													7	222					0.00198382	0.0022035	0.001984	1	0
SLTM	79811	broad.mit.edu	37	15	59192032	59192032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192032G>A	ENST00000380516.2	-	7	781	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	232	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGTCGTATGAGCTTCCATC	0.473000													11	59					0	0	0.000978	0	0
FAT3	120114	broad.mit.edu	37	11	92534900	92534900	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:92534900G>C	ENST00000298047.6	+	9	8738	c.8721G>C	c.(8719-8721)acG>acC	p.T2907T	FAT3_ENST00000409404.2_Silent_p.T2907T|FAT3_ENST00000525166.1_Silent_p.T2757T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2907	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCTCCACGGCCTTGGTCT	0.542000										TCGA Ovarian(4;0.039)			11	90					0	0	0.002450	0	0
FAM154A	158297	broad.mit.edu	37	9	18928737	18928737	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:18928737G>T	ENST00000380534.4	-	4	1017	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Silent_p.G54G	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532000													20	36					2.94398e-08	3.8214e-08	0.007413	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647422	33647422	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:33647422G>T	ENST00000558425.1	-	2	177	c.178C>A	c.(178-180)Cca>Aca	p.P60T																								CCCTTCCCTGGAGCCTGGCGG	0.547000													42	249					2.45108e-15	3.482e-15	0.008740	1	0
DMGDH	29958	broad.mit.edu	37	5	78324334	78324334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:78324334C>T	ENST00000255189.3	-	12	1982	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	DMGDH_ENST00000380311.4_Missense_Mutation_p.D451N|DMGDH_ENST00000540686.1_Missense_Mutation_p.D272N	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	652					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)		TTGAAAACATCATCACTAAGA	0.393000													11	84					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	10					0	0	0.003080	0	0
SNRPN	6638	broad.mit.edu	37	15	25213175	25213175	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:25213175A>T	ENST00000554227.2	+	0	432				SNURF_ENST00000577949.1_Missense_Mutation_p.R69S|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400098.1_De_novo_Start_InFrame|SNURF_ENST00000338327.4_Missense_Mutation_p.R69S|SNRPN_ENST00000400097.1_De_novo_Start_InFrame|SNURF_ENST00000338094.6_Missense_Mutation_p.R69S|SNRPN_ENST00000400100.1_De_novo_Start_InFrame|SNRPN_ENST00000390687.4_De_novo_Start_InFrame|SNRPN_ENST00000577565.1_De_novo_Start_OutOfFrame|SNRPN_ENST00000346403.6_De_novo_Start_OutOfFrame			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGACACCAAGAGGTGGTTAAA	0.458000									Prader-Willi syndrome				6	36					0	0	0.001168	0	0
DSC3	1825	broad.mit.edu	37	18	28588469	28588469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr18:28588469C>A	ENST00000434452.1	-	10	1440	c.1286G>T	c.(1285-1287)cGt>cTt	p.R429L	DSC3_ENST00000360428.4_Missense_Mutation_p.R429L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	429	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTCACTTGACGGTTTTCTTC	0.388000													3	32					0.004672	0.00513765	0.004672	1	0
MTCH2	23788	broad.mit.edu	37	11	47653245	47653245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47653245C>A	ENST00000302503.3	-	6	545	c.388G>T	c.(388-390)Gct>Tct	p.A130S	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGAACGAGCGATCATCTCT	0.428000													11	51					6.40141e-05	7.56738e-05	0.000978	1	0
RALYL	138046	broad.mit.edu	37	8	85441676	85441676	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:85441676C>A	ENST00000521268.1	+	2	1225	c.120C>A	c.(118-120)gcC>gcA	p.A40A	RALYL_ENST00000521695.1_Silent_p.A40A|RALYL_ENST00000518566.1_Silent_p.A40A|RALYL_ENST00000517638.1_Silent_p.A53A|RALYL_ENST00000522455.1_Silent_p.A40A	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	40	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACATTGAAGCCATTTTTTCAA	0.423000													18	24					6.49762e-13	9.03661e-13	0.006122	1	0
RBM15	64783	broad.mit.edu	37	1	110882411	110882411	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:110882411C>T	ENST00000369784.3	+	1	1284	c.384C>T	c.(382-384)tcC>tcT	p.S128S	RBM15_ENST00000487146.2_Silent_p.S128S|RBM15_ENST00000602849.1_Silent_p.S128S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	128	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTATAGCTCCCCGAGCACCA	0.657000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	0.004672	0	0
ETNK1	55500	broad.mit.edu	37	12	22813997	22813997	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:22813997G>T	ENST00000266517.4	+	4	914	c.824_splice	c.e4-1	p.R275_splice		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	275					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAACTAAAAGGTTCCTAAGTG	0.353000													13	20					2.27111e-07	2.8913e-07	0.001368	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995417	140995417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:140995417C>A	ENST00000285879.4	+	4	2513	c.2227C>A	c.(2227-2229)Cct>Act	p.P743T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	743							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGAGTAT	0.557000										HNSCC(15;0.026)			48	202					8.00217e-19	1.14663e-18	0.003610	1	0
NR1I3	9970	broad.mit.edu	37	1	161202597	161202597	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:161202597C>T	ENST00000367983.4	-	5	842	c.548_splice	c.e5+1	p.R183_splice	NR1I3_ENST00000367984.4_Splice_Site_p.R183_splice|NR1I3_ENST00000367985.3_Splice_Site_p.R183_splice|NR1I3_ENST00000505005.1_Splice_Site_p.R183_splice|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000412844.2_Splice_Site_p.R154_splice|NR1I3_ENST00000428574.2_Splice_Site_p.R183_splice|NR1I3_ENST00000515452.1_Splice_Site_p.R183_splice|NR1I3_ENST00000437437.2_Splice_Site_p.R154_splice|NR1I3_ENST00000508740.1_Splice_Site_p.R154_splice|NR1I3_ENST00000511676.1_Splice_Site_p.R154_splice|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Splice_Site_p.R154_splice|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367980.2_Splice_Site_p.R183_splice|NR1I3_ENST00000515621.1_Splice_Site_p.R108_splice|NR1I3_ENST00000442691.2_Splice_Site_p.R183_splice|NR1I3_ENST00000367982.4_Splice_Site_p.R183_splice|NR1I3_ENST00000512372.1_Splice_Site_p.R154_splice|NR1I3_ENST00000504010.1_Splice_Site_p.R154_splice|NR1I3_ENST00000367981.3_Splice_Site_p.R154_splice|NR1I3_ENST00000367979.2_Splice_Site_p.R183_splice			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	183					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCACTCACCGGAAGACGGG	0.493000													11	121					0	0	0.008291	0	0
PRKDC	5591	broad.mit.edu	37	8	48790322	48790322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:48790322C>T	ENST00000314191.2	-	41	5379	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E1775K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1776					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAATAATTCTTCCATGACA	0.403000								Non-homologous end-joining					7	91					0	0	0.001984	0	0
NTRK1	4914	broad.mit.edu	37	1	156834552	156834552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156834552C>T	ENST00000368196.3	+	3	440	c.320C>T	c.(319-321)gCg>gTg	p.A107V	NTRK1_ENST00000358660.3_Missense_Mutation_p.A107V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A77V|NTRK1_ENST00000524377.1_Missense_Mutation_p.A107V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	107			A -> V (in an ovarian serous carcinoma sample; somatic mutation).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A107V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGTTTCGTGGCGCCAGATGCC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			5	67					0	0	0.000602	0	0
TIMP4	7079	broad.mit.edu	37	3	12195027	12195027	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:12195027G>A	ENST00000287814.4	-	5	1173	c.663C>T	c.(661-663)atC>atT	p.I221I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	221							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGCTGAACGATGTCAACAA	0.532000													10	82					0	0	0.006214	0	0
GALNT5	11227	broad.mit.edu	37	2	158115947	158115947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:158115947G>T	ENST00000259056.4	+	1	1838	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	451					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCATGGAAAGGAGAAGGAGG	0.498000													7	72					1.06961e-07	1.38298e-07	0.003080	1	0
ASPM	259266	broad.mit.edu	37	1	197112506	197112506	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:197112506C>T	ENST00000367409.4	-	3	1132	c.876G>A	c.(874-876)gaG>gaA	p.E292E	ASPM_ENST00000294732.7_Silent_p.E292E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	292					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTACTATTCTCTCCTCTTT	0.328000													4	86					0	0	0.009096	0	0
TNRC6A	27327	broad.mit.edu	37	16	24762097	24762097	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24762097A>C	ENST00000395799.3	+	3	233	c.104A>C	c.(103-105)aAa>aCa	p.K35T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.K35T|TNRC6A_ENST00000562829.1_Intron	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	35					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		aaaaagaaaaaagacgacaag	0.294000													3	21					0	0	0.004672	0	0
NODAL	4838	broad.mit.edu	37	10	72195563	72195563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:72195563C>T	ENST00000287139.3	-	2	369	c.370G>A	c.(370-372)Gct>Act	p.A124T	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	124					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTGTCTGAAGCCTGCTCTGTG	0.567000													16	49					0	0	0.004990	0	0
NAV3	89795	broad.mit.edu	37	12	78515721	78515721	+	Splice_Site	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:78515721T>A	ENST00000397909.2	+	16	3924	c.3749_splice	c.e16-1	p.L1251_splice	NAV3_ENST00000536525.2_Splice_Site_p.L1251_splice|NAV3_ENST00000228327.6_Splice_Site_p.L1251_splice|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1251	Ser-rich.					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						TTCTTTTAGGTTGTTTGGTGC	0.433000										HNSCC(70;0.22)			3	21					0	0	0.004672	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557000													3	40					0	0	0.004672	0	0
ATG9B	285973	broad.mit.edu	37	7	150721177	150721177	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:150721177G>C	ENST00000605938.1	-	1	409	c.334C>G	c.(334-336)Ccc>Gcc	p.P112A	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.P112A|ATG9B_ENST00000377974.2_Missense_Mutation_p.P112A	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	112	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCAGGAGGGAGATGCAGAG	0.657000													3	19					0	0	0.004672	0	0
KRT80	144501	broad.mit.edu	37	12	52567495	52567495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:52567495C>T	ENST00000313234.5	-	5	817	c.720G>A	c.(718-720)atG>atA	p.M240I	KRT80_ENST00000394815.2_Missense_Mutation_p.M240I	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	240	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGCGGCTGTCCATGCCGACGG	0.662000													7	52					0	0	0.001984	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664453	44664453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44664453C>T	ENST00000454036.1	+	4	462	c.386C>T	c.(385-387)cCg>cTg	p.P129L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P106L|SLC12A5_ENST00000539566.1_Missense_Mutation_p.P106L|SLC12A5_ENST00000372315.1_Missense_Mutation_p.P106L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	129					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)	GTGTACCTGCCGTGCCTGCAG	0.597000													4	28					0	0	0.000602	0	0
DISC1	27185	broad.mit.edu	37	1	231829772	231829772	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:231829772T>A	ENST00000439617.2	+	2	321	c.268T>A	c.(268-270)Tcg>Acg	p.S90T	DISC1_ENST00000535983.1_Missense_Mutation_p.S90T|DISC1_ENST00000317586.4_Missense_Mutation_p.S90T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.S90T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.S90T|DISC1_ENST00000366633.3_Missense_Mutation_p.S90T|DISC1_ENST00000366636.4_Missense_Mutation_p.S90T|DISC1_ENST00000539444.1_Missense_Mutation_p.S90T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	90	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGGCCTTGACTCGAGAGGCCT	0.622000													7	33					0	0	0.003080	0	0
NALCN	259232	broad.mit.edu	37	13	101759838	101759838	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:101759838G>T	ENST00000251127.6	-	22	2660	c.2579_splice	c.e22+1	p.A860_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					GTGTACTTACGCGTTGAAGCG	0.502000													10	57					7.48243e-07	9.45299e-07	0.006214	1	0
BRCC3	79184	broad.mit.edu	37	X	154348404	154348404	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:154348404A>G	ENST00000369462.1	+	11	955	c.930A>G	c.(928-930)caA>caG	p.Q310Q	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Silent_p.Q285Q|BRCC3_ENST00000340647.4_Silent_p.Q286Q|BRCC3_ENST00000369459.2_Silent_p.Q241Q|BRCC3_ENST00000399042.1_Silent_p.Q311Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	310					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTTATGCAAGAACTTTCTT	0.418000													11	49					0	0	0.001855	0	0
ZNF677	342926	broad.mit.edu	37	19	53741564	53741564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:53741564G>C	ENST00000333952.4	-	5	581	c.416C>G	c.(415-417)tCc>tGc	p.S139C	ZNF677_ENST00000598513.1_Missense_Mutation_p.S139C			Q86XU0	ZN677_HUMAN	zinc finger protein 677	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGTATTGAGGATTTATTATG	0.333000													12	32					0	0	0.000978	0	0
CHL1	10752	broad.mit.edu	37	3	396330	396330	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:396330T>C	ENST00000256509.2	+	11	1683	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	CHL1_ENST00000397491.2_Silent_p.P331P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	331	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGCCTCCTCGCTGGACAA	0.453000													18	103					0	0	0.006122	0	0
OR13C8	138802	broad.mit.edu	37	9	107331812	107331812	+	Missense_Mutation	SNP	C	C	T	rs79042036		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:107331812C>T	ENST00000335040.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGCACTGGACCGCTATGTGGC	0.527000													16	62					0	0	0.004007	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446343	4446343	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:4446343G>A	ENST00000254718.4	-	20	3063	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	MYBBP1A_ENST00000381556.2_Silent_p.T919T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	919					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTAGAGGGCGGTGGGGGAGT	0.667000													13	95					0	0	0.004007	0	0
SMG6	23293	broad.mit.edu	37	17	2202976	2202976	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:2202976T>C	ENST00000544865.1	-	2	1488	c.978A>G	c.(976-978)gaA>gaG	p.E326E	SMG6_ENST00000263073.5_Silent_p.E357E			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	357	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTCATGGCTTCTGCATCGA	0.498000													16	60					0	0	0.003163	0	0
NDUFA1	4694	broad.mit.edu	37	X	119007299	119007299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:119007299G>C	ENST00000371437.4	+	2	560	c.135G>C	c.(133-135)tgG>tgC	p.W45C		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	45					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	GGTATCACTGGAGTCTGATGG	0.408000													10	52					0	0	0.001368	0	0
MADD	8567	broad.mit.edu	37	11	47306564	47306564	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:47306564C>T	ENST00000342922.4	+	13	2587	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	MADD_ENST00000395336.3_Missense_Mutation_p.P744S|MADD_ENST00000395344.3_Missense_Mutation_p.P744S|MADD_ENST00000402799.1_Missense_Mutation_p.P744S|MADD_ENST00000407859.3_Missense_Mutation_p.P744S|MADD_ENST00000406482.1_Missense_Mutation_p.P744S|MADD_ENST00000402192.2_Missense_Mutation_p.P744S|MADD_ENST00000349238.3_Missense_Mutation_p.P744S|MADD_ENST00000311027.5_Missense_Mutation_p.P744S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	744					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCGTGCCTCCCAGCATTGG	0.532000													14	63					0	0	0.001855	0	0
SIX2	10736	broad.mit.edu	37	2	45235795	45235795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:45235795C>A	ENST00000303077.6	-	1	774	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152						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)				ACGCTTCTCGCGGGGTGAAGG	0.667000													18	82					9.16793e-09	1.2042e-08	0.004990	1	0
DDI1	414301	broad.mit.edu	37	11	103908471	103908471	+	Silent	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:103908471T>A	ENST00000302259.3	+	1	1164	c.921T>A	c.(919-921)atT>atA	p.I307I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	307					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TAGCTCAGATTCAAATTGAAG	0.473000													8	41					0	0	0.004482	0	0
NFKB2	4791	broad.mit.edu	37	10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:104161068G>A	ENST00000369966.3	+	19	2453	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N|NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	735			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CACGCCTCTTGACCTCACTTG	0.597000			T	IGH@	B-NHL								10	59					0	0	0.008291	0	0
KIF19	124602	broad.mit.edu	37	17	72350347	72350347	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:72350347C>A	ENST00000389916.4	+	18	2493	c.2355C>A	c.(2353-2355)gcC>gcA	p.A785A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	785					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						GGGTGAAGGCCGCCCGGCGGC	0.672000													10	88					0.000673444	0.00076339	0.008291	1	0
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000269932.6_Silent_p.A453A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672000													11	58					0	0	0.000978	0	0
INSRR	3645	broad.mit.edu	37	1	156821927	156821927	+	Missense_Mutation	SNP	C	C	T	rs140347940		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:156821927C>T	ENST00000368195.3	-	3	1090	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	232					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGGCATTCGGTGTGGCAG	0.672000													8	54					0	0	0.003080	0	0
ERH	2079	broad.mit.edu	37	14	69847288	69847288	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:69847288G>A	ENST00000557016.1	-	4	675	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	94					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GCCGACGAAGGAGCACGTAGA	0.507000													17	59					0	0	0.007413	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342531	16342531	+	RNA	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:16342531G>C	ENST00000475953.1	+	0	173				C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA	NR_027667.1																						CTGCGCCCGCGTGGCTTTCGC	0.687000													8	45					0	0	0.006214	0	0
ABCC4	10257	broad.mit.edu	37	13	95723952	95723952	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:95723952C>T	ENST00000376887.4	-	25	3288	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L	ABCC4_ENST00000412704.1_Silent_p.L1011L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1058	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGATGCTTCAGTACCAGAG	0.438000													7	78					0	0	0.001984	0	0
INF2	64423	broad.mit.edu	37	14	105169539	105169539	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105169539C>T	ENST00000392634.4	+	3	601	c.489C>T	c.(487-489)gaC>gaT	p.D163D	INF2_ENST00000398337.4_Silent_p.D163D|INF2_ENST00000330634.7_Silent_p.D163D	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	163	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGACCCTGGACGCCCTGGACC	0.662000													8	53					0	0	0.003080	0	0
KCTD18	130535	broad.mit.edu	37	2	201355337	201355337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201355337C>T	ENST00000359878.3	-	7	1277	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R256Q	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CGTTATCAGTCGCCTAGAAAT	0.393000													4	51					0	0	0.009096	0	0
IRF7	3665	broad.mit.edu	37	11	612770	612770	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:612770C>G	ENST00000397566.1	-	9	1835	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	IRF7_ENST00000330243.5_Missense_Mutation_p.E476Q|IRF7_ENST00000397562.3_Missense_Mutation_p.E170Q|IRF7_ENST00000397570.1_Missense_Mutation_p.E434Q|IRF7_ENST00000525445.1_Missense_Mutation_p.E357Q|IRF7_ENST00000397574.2_Missense_Mutation_p.E463Q|IRF7_ENST00000348655.6_Missense_Mutation_p.E434Q	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	463					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGTGCCCTCTAGGTGCACT	0.647000													3	40					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134071517	134071517	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:134071517C>T	ENST00000264360.4	+	1	1048	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	74	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y74*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547000													6	92					0	0	0.001984	0	0
F9	2158	broad.mit.edu	37	X	138643931	138643931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:138643931G>C	ENST00000218099.2	+	8	1094	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	F9_ENST00000394090.2_Missense_Mutation_p.G325R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	363	Peptidase S1.		G -> W (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTTCCACAAAGGGAGATCAGC	0.428000													5	96					0	0	0.000602	0	0
ZNF507	22847	broad.mit.edu	37	19	32845809	32845809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:32845809C>G	ENST00000311921.3	+	2	2265	c.2073C>G	c.(2071-2073)caC>caG	p.H691Q	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.H691Q|ZNF507_ENST00000355898.5_Missense_Mutation_p.H691Q	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGATCCACCACTGTAAGACAA	0.453000													6	28					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228495874	228495874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228495874G>T	ENST00000570156.2	+	58	15474	c.15400G>T	c.(15400-15402)Gag>Tag	p.E5134*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E4177*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E4177*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E1296*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E1811*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4177	Ig-like 49.				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)				TGAGGATGTTGAGTTCAGCTG	0.612000													33	45					9.17885e-22	1.32096e-21	0.003271	1	0
STXBP1	6812	broad.mit.edu	37	9	130430376	130430376	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:130430376T>C	ENST00000373302.3	+	10	951	c.812T>C	c.(811-813)aTc>aCc	p.I271T	STXBP1_ENST00000373299.1_Missense_Mutation_p.I271T	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	271					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ACCAGCGGCATCGGGGAGGCA	0.587000													11	34					0	0	0.001368	0	0
KCNA6	3742	broad.mit.edu	37	12	4919377	4919377	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:4919377G>A	ENST00000433855.1	+	1	1036	c.170G>A	c.(169-171)cGc>cAc	p.R57H	KCNA6_ENST00000280684.3_Missense_Mutation_p.R57H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	57						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACACAATTGCGCACCCTGTCG	0.652000										HNSCC(72;0.22)			5	27					0	0	0.000602	0	0
CLCA4	22802	broad.mit.edu	37	1	87041018	87041018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:87041018G>T	ENST00000370563.3	+	11	1729	c.1687G>T	c.(1687-1689)Ggc>Tgc	p.G563C	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	563						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.G563F(1)|p.G563C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTTTAGGTGGGCACTTGGGC	0.353000													7	30					1.26484e-09	1.68816e-09	0.003080	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	30					0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56470280	56470280	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:56470280G>A	ENST00000370754.5	-	39	9046	c.9047C>T	c.(9046-9048)tCa>tTa	p.S3016L	DST_ENST00000370769.4_Missense_Mutation_p.S2838L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2512L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S2838L|DST_ENST00000312431.6_Missense_Mutation_p.S2838L|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2838					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)			TTTCTGAATTGATGTTTCATC	0.373000													15	153					0	0	0.002450	0	0
SRRT	51593	broad.mit.edu	37	7	100483532	100483532	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:100483532A>G	ENST00000388793.4	+	12	1645	c.1425A>G	c.(1423-1425)aaA>aaG	p.K475K	SRRT_ENST00000347433.4_Silent_p.K476K|SRRT_ENST00000432932.1_Silent_p.K475K|SRRT_ENST00000457580.2_Silent_p.K476K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	476					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTAACATTAAAGAGATCTGTT	0.527000													13	105					0	0	0.001855	0	0
PTGDR	5729	broad.mit.edu	37	14	52734683	52734683	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:52734683C>T	ENST00000306051.2	+	1	253	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	PTGDR_ENST00000553372.1_Missense_Mutation_p.R51W	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	51						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGGTGCTCGCGGCGTCCACT	0.701000													7	26					0	0	0.001984	0	0
ZEB1	6935	broad.mit.edu	37	10	31815845	31815845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:31815845C>A	ENST00000446923.2	+	9	3371	c.2980C>A	c.(2980-2982)Cac>Aac	p.H994N	ZEB1_ENST00000542815.3_Missense_Mutation_p.H943N|ZEB1_ENST00000361642.5_Missense_Mutation_p.H1011N|ZEB1_ENST00000560721.2_Missense_Mutation_p.H990N|ZEB1_ENST00000320985.10_Missense_Mutation_p.H1010N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1010	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCGAATGAGCACGTGGGTGC	0.532000													10	28					0.000442599	0.000505174	0.006214	1	0
CDKL4	344387	broad.mit.edu	37	2	39431698	39431698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39431698T>A	ENST00000378803.1	-	4	423	c.424A>T	c.(424-426)Att>Ttt	p.I142F	CDKL4_ENST00000395035.3_Missense_Mutation_p.I142F	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	142	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AAGTCACAAATCTTGATTATT	0.279000													3	29					0	0	0.009096	0	0
LRFN5	145581	broad.mit.edu	37	14	42356775	42356775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:42356775C>A	ENST00000554171.1	+	5	3379	c.947C>A	c.(946-948)cCt>cAt	p.P316H	LRFN5_ENST00000298119.4_Missense_Mutation_p.P316H|LRFN5_ENST00000554120.1_Missense_Mutation_p.P316H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	316	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACCCTGAGCCTGCAATTCAC	0.463000										HNSCC(30;0.082)			19	25					8.00594e-06	9.77847e-06	0.007413	1	0
KIAA0753	9851	broad.mit.edu	37	17	6531765	6531765	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:6531765C>T	ENST00000361413.3	-	3	748	c.390G>A	c.(388-390)caG>caA	p.Q130Q	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	130						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCCACACTTCTGAGAGCTTT	0.433000													4	41					0	0	0.000602	0	0
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:3701483G>T	ENST00000382622.3	+	9	1456	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G347W	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	356					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557000													24	48					2.70639e-06	3.3426e-06	0.002299	1	0
DST	667	broad.mit.edu	37	6	56469665	56469665	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:56469665G>C	ENST00000370754.5	-	39	9661	c.9662C>G	c.(9661-9663)tCa>tGa	p.S3221*	DST_ENST00000370769.4_Nonsense_Mutation_p.S3043*|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.S2717*|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Nonsense_Mutation_p.S3043*|DST_ENST00000312431.6_Nonsense_Mutation_p.S3043*|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3043					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)			TCCTCCTCCTGAGATGCTTTC	0.358000													7	48					0	0	0.001984	0	0
FMO1	2326	broad.mit.edu	37	1	171254448	171254448	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:171254448C>T	ENST00000354841.4	+	8	1495	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	FMO1_ENST00000402921.2_Missense_Mutation_p.T392M|FMO1_ENST00000367750.3_Missense_Mutation_p.T455M|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	455					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCTCCTAACGGATCCACAT	0.468000													9	88					0	0	0.004482	0	0
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554192.1_Intron			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								7	41					8.12818e-05	9.50682e-05	0.001984	1	0
CLEC16A	23274	broad.mit.edu	37	16	11038605	11038605	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:11038605G>A	ENST00000409790.1	+	1	261	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	CLEC16A_ENST00000409552.3_Missense_Mutation_p.G11R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	11										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGGGTGGGCGGGGGCCATGG	0.711000													3	12					0	0	0.004672	0	0
ZNF883	169834	broad.mit.edu	37	9	115760036	115760036	+	RNA	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:115760036T>C	ENST00000427548.1	-	0	1777							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GATGTTCAATTAGGTGTGTGC	0.403000													4	42					0	0	0.009096	0	0
LRP4	4038	broad.mit.edu	37	11	46911554	46911554	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:46911554C>T	ENST00000378623.1	-	15	2275	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	678					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)		GAGTTTGTTGCGAATGATTTC	0.517000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	82					0	0	0.001855	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458000													5	122					0	0	0.000602	0	0
IL17A	3605	broad.mit.edu	37	6	52052547	52052547	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:52052547C>T	ENST00000340057.1	+	2	219	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	58					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATACCAATACCAATCCCAAAA	0.453000													17	141					0	0	0.004007	0	0
ADCY5	111	broad.mit.edu	37	3	123071356	123071356	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:123071356A>T	ENST00000462833.1	-	2	2419	c.1207T>A	c.(1207-1209)Tcc>Acc	p.S403T	ADCY5_ENST00000309879.5_Missense_Mutation_p.S53T|ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Missense_Mutation_p.S36T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	403					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGTCTCTGGGAGACCTCAGCC	0.607000													12	43					0	0	0.001855	0	0
DCN	1634	broad.mit.edu	37	12	91572199	91572199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:91572199C>T	ENST00000551354.1	-	2	335	c.131G>A	c.(130-132)cGc>cAc	p.R44H	DCN_ENST00000456569.2_Missense_Mutation_p.R44H|DCN_ENST00000546745.1_Missense_Mutation_p.R44H|DCN_ENST00000547568.2_Missense_Mutation_p.R44H|DCN_ENST00000420120.2_Missense_Mutation_p.R44H|DCN_ENST00000052754.5_Missense_Mutation_p.R44H|DCN_ENST00000228329.5_Missense_Mutation_p.R44H|DCN_ENST00000552962.1_Missense_Mutation_p.R44H|DCN_ENST00000441303.2_Missense_Mutation_p.R44H|DCN_ENST00000303320.3_Missense_Mutation_p.R44H|DCN_ENST00000425043.1_Missense_Mutation_p.R44H|DCN_ENST00000550099.1_Missense_Mutation_p.R44H|DCN_ENST00000546370.1_Missense_Mutation_p.R44H|DCN_ENST00000393155.1_Missense_Mutation_p.R44H			P07585	PGS2_HUMAN	decorin	44					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCGAAGTCGCGGTCATCAGG	0.532000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	89					0	0	0.004990	0	0
FKBP14	55033	broad.mit.edu	37	7	30058645	30058645	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30058645A>G	ENST00000222803.5	-	3	619	c.444T>C	c.(442-444)gaT>gaC	p.D148D	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	148	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCATTAAGATCCATTTCTT	0.378000													8	53					0	0	0.004482	0	0
NONO	4841	broad.mit.edu	37	X	70511691	70511691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:70511691C>T	ENST00000276079.8	+	4	422	c.217C>T	c.(217-219)Cga>Tga	p.R73*	NONO_ENST00000373841.1_Nonsense_Mutation_p.R73*|NONO_ENST00000373856.3_Nonsense_Mutation_p.R73*|NONO_ENST00000535149.1_5'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	73	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTTCACCCAACGAAGCCGTCT	0.428000			T	TFE3	papillary renal cancer								4	31					0	0	0.009096	0	0
NPM1	4869	broad.mit.edu	37	5	170834751	170834751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:170834751G>C	ENST00000296930.5	+	10	1120	c.819G>C	c.(817-819)aaG>aaC	p.K273N	NPM1_ENST00000351986.6_Missense_Mutation_p.K244N|NPM1_ENST00000517671.1_Missense_Mutation_p.K273N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	273	Required for nucleolar localization.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTATGTGAAGAATTGCTTCC	0.373000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								8	34					0	0	0.004482	0	0
TRPS1	7227	broad.mit.edu	37	8	116631652	116631652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:116631652G>T	ENST00000395715.3	-	3	1250	c.673C>A	c.(673-675)Ccg>Acg	p.P225T	TRPS1_ENST00000520276.1_Missense_Mutation_p.P216T|TRPS1_ENST00000519076.1_Missense_Mutation_p.P166T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P212T|TRPS1_ENST00000220888.5_Missense_Mutation_p.P212T	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	212					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGAGGTGCCGGGTCTGGGTTG	0.468000									Langer-Giedion syndrome				18	130					6.94344e-10	9.38073e-10	0.006122	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255829	140255829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140255829G>A	ENST00000398631.2	+	1	772	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCAAAACGACACAAGAGT	0.418000													12	71					0	0	0.000978	0	0
EMR3	84658	broad.mit.edu	37	19	14736360	14736360	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14736360C>G	ENST00000253673.5	-	15	1964	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	EMR3_ENST00000443157.2_Missense_Mutation_p.E496Q|EMR3_ENST00000344373.4_Missense_Mutation_p.E570Q|EMR3_ENST00000599900.1_Missense_Mutation_p.E407Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	622					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTCTCAGACTCAGATTTTGAT	0.388000													10	71					0	0	0.000978	0	0
ETNK1	55500	broad.mit.edu	37	12	22813996	22813996	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:22813996G>T	ENST00000266517.4	+	4	913		c.e4-1			NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1						phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAACTAAAAGGTTCCTAAGT	0.353000													13	19					2.27111e-07	2.8913e-07	0.001368	1	0
AURKB	9212	broad.mit.edu	37	17	8109862	8109862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:8109862C>A	ENST00000316199.6	-	7	713	c.636G>T	c.(634-636)aaG>aaT	p.K212N	AURKB_ENST00000534871.1_Missense_Mutation_p.K170N|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000578549.1_Missense_Mutation_p.K179N|AURKB_ENST00000585124.1_Missense_Mutation_p.K211N			Q96GD4	AURKB_HUMAN	aurora kinase B	211	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TCAGCTCTCCCTTGAGCCCTA	0.547000													11	31					1.08611e-07	1.39342e-07	0.000978	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102474660	102474660	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:102474660C>T	ENST00000360184.4	+	29	6127	c.5963C>T	c.(5962-5964)cCc>cTc	p.P1988L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1988	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATTCCAACCCCAACTACGAC	0.473000													8	32					0	0	0.006214	0	0
HCN1	348980	broad.mit.edu	37	5	45262359	45262359	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:45262359C>A	ENST00000303230.4	-	8	2394	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	779						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCCCGGGTCAGGTTGGTGT	0.632000													7	39					0.00307968	0.00339791	0.003080	1	0
WNT9B	7484	broad.mit.edu	37	17	44952530	44952530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:44952530G>A	ENST00000393461.2	+	3	451	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	WNT9B_ENST00000290015.2_Missense_Mutation_p.R133Q			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	133					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCCTGGCCCGGGCCTGCAGC	0.677000													8	199					0	0	0.003080	0	0
ESRRG	2104	broad.mit.edu	37	1	216850650	216850650	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:216850650G>A	ENST00000391890.3	-	4	688	c.171C>T	c.(169-171)gaC>gaT	p.D57D	ESRRG_ENST00000366938.2_Silent_p.D57D|ESRRG_ENST00000366937.1_Silent_p.D85D|ESRRG_ENST00000408911.3_Silent_p.D80D|ESRRG_ENST00000359162.2_Silent_p.D57D|ESRRG_ENST00000493603.1_Silent_p.D57D|ESRRG_ENST00000361525.3_Silent_p.D57D|ESRRG_ENST00000493748.1_Silent_p.D57D|ESRRG_ENST00000463665.1_Silent_p.D57D|ESRRG_ENST00000366940.2_Silent_p.D57D|ESRRG_ENST00000360012.3_Silent_p.D57D|ESRRG_ENST00000361395.2_Silent_p.D57D|ESRRG_ENST00000487276.1_Silent_p.D57D	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	80					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGGTGGCGAGTCAAGTCCGT	0.562000													22	83					0	0	0.010504	0	0
FAM188B	84182	broad.mit.edu	37	7	30915236	30915236	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:30915236T>G	ENST00000265299.6	+	15	2013	c.1936T>G	c.(1936-1938)Ttc>Gtc	p.F646V	AQP1_ENST00000509504.1_Missense_Mutation_p.F109V|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	646										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATATTGGCTTCTTATCTCT	0.498000													22	105					0	0	0.002780	0	0
DNAI2	64446	broad.mit.edu	37	17	72301535	72301535	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:72301535C>T	ENST00000579490.1	+	8	1471	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	DNAI2_ENST00000307504.5_Missense_Mutation_p.R246C|DNAI2_ENST00000582036.1_Missense_Mutation_p.R389C|DNAI2_ENST00000311014.6_Missense_Mutation_p.R389C|DNAI2_ENST00000446837.2_Missense_Mutation_p.R389C			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	389					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGACAGCCCGCATTTGGTC	0.592000									Kartagener syndrome				16	30					0	0	0.003163	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710151	112710151	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:112710151T>C	ENST00000383677.3	+	1	320	c.305T>C	c.(304-306)aTc>aCc	p.I102T	GTPBP8_ENST00000383678.2_Missense_Mutation_p.I102T	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	102					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCCGTCCGTATCGACCACGCC	0.652000													6	28					0	0	0.001168	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819231	200819231	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:200819231C>G	ENST00000358823.2	+	11	3604	c.3334C>G	c.(3334-3336)Ctg>Gtg	p.L1112V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1096V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1123V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1123						cytoplasm|microtubule	protein binding										AAATGTTAATCTGATTGAAGT	0.408000													8	142					0	0	0.006214	0	0
LOC645166	645166	broad.mit.edu	37	1	148932845	148932845	+	RNA	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:148932845T>A	ENST00000539543.1	+	0	101					NR_027355.1																						CCAGCATGGCTGCATCCAGTA	0.607000													14	228					0	0	0.001855	0	0
SMYD4	114826	broad.mit.edu	37	17	1703946	1703946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:1703946C>T	ENST00000305513.7	-	5	909	c.742G>A	c.(742-744)Gtt>Att	p.V248I		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	248							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTTGTGGCAACGAGACAGCGA	0.517000													14	104					0	0	0.004007	0	0
CDH22	64405	broad.mit.edu	37	20	44806630	44806630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:44806630G>A	ENST00000372262.3	-	10	2270	c.1870C>T	c.(1870-1872)Ccc>Tcc	p.P624S	CDH22_ENST00000537909.1_Missense_Mutation_p.P624S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGGGCGCCGGGGCTGAGGGAG	0.652000													8	26					0	0	0.003080	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925172	105925172	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:105925172C>T	ENST00000526793.1	-	3	403	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	KBTBD3_ENST00000531837.1_Missense_Mutation_p.E82K|KBTBD3_ENST00000534815.1_Missense_Mutation_p.E3K	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	78	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTTACTTCAAACATAGCC	0.318000													4	13					0	0	0.009096	0	0
ZNF254	9534	broad.mit.edu	37	19	24309344	24309344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:24309344C>T	ENST00000357002.4	+	4	657	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF254_ENST00000342944.6_Missense_Mutation_p.S96F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	181					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAAAGAAATCTTTCAAATGT	0.284000													9	71					0	0	0.006214	0	0
RS1	6247	broad.mit.edu	37	X	18665334	18665334	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:18665334G>T	ENST00000379984.3	-	4	343	c.303C>A	c.(301-303)gcC>gcA	p.A101A	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	101	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTTGAGCCGGGCCTTGTTTG	0.527000													15	56					2.62699e-14	3.71595e-14	0.003163	1	0
PXDN	7837	broad.mit.edu	37	2	1642712	1642712	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:1642712G>A	ENST00000252804.4	-	21	4162	c.4112C>T	c.(4111-4113)tCa>tTa	p.S1371L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1371					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGAAGGCTGAGGTGCTGTT	0.527000													5	68					0	0	0.000602	0	0
PLCB1	23236	broad.mit.edu	37	20	8717773	8717773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:8717773G>T	ENST00000378641.3	+	20	2617	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	PLCB1_ENST00000378637.2_Missense_Mutation_p.K714N|PLCB1_ENST00000338037.6_Missense_Mutation_p.K714N|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	714	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGCATTTAAGACCAAAACAT	0.388000													11	38					0.000978159	0.00109753	0.000978	1	0
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:32957127C>G	ENST00000321639.5	+	6	1497	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	390						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGGACATCTCCGCCCTAGTG	0.572000													4	29					0	0	0.009096	0	0
EMR2	30817	broad.mit.edu	37	19	14866474	14866474	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:14866474A>G	ENST00000315576.3	-	13	1859	c.1408T>C	c.(1408-1410)Tcc>Ccc	p.S470P	EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.S377P|EMR2_ENST00000353005.1_Missense_Mutation_p.S328P|EMR2_ENST00000601345.1_Missense_Mutation_p.S459P|EMR2_ENST00000594294.1_Missense_Mutation_p.S421P|EMR2_ENST00000392967.2_Missense_Mutation_p.S459P|EMR2_ENST00000392965.3_Missense_Mutation_p.S470P|EMR2_ENST00000594076.1_Missense_Mutation_p.S377P|EMR2_ENST00000595839.1_Missense_Mutation_p.S328P|EMR2_ENST00000596991.2_Missense_Mutation_p.S459P|EMR2_ENST00000346057.1_Missense_Mutation_p.S421P	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	470					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACACGGTGGGAGAAGGTGAAG	0.587000													9	89					0	0	0.004482	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955453	18955453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:18955453C>A	ENST00000302797.3	-	1	1103	c.879G>T	c.(877-879)agG>agT	p.R293S		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	293					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGCAGAGCCCTCTGGAGAA	0.552000													12	66					1.08611e-07	1.39342e-07	0.000978	1	0
C9orf84	158401	broad.mit.edu	37	9	114454670	114454670	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:114454670G>A	ENST00000394779.3	-	23	3522	c.3278C>T	c.(3277-3279)gCt>gTt	p.A1093V	C9orf84_ENST00000394777.4_Missense_Mutation_p.A1058V|C9orf84_ENST00000374287.3_Missense_Mutation_p.A1132V|C9orf84_ENST00000318737.4_Missense_Mutation_p.A1132V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1132										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAAATCAGAAGCTGAACTTTG	0.358000													7	35					0	0	0.001984	0	0
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:24366257C>T	ENST00000005284.3	+	3	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587000													7	51					0	0	0.004482	0	0
BCL10	8915	broad.mit.edu	37	1	85733446	85733446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:85733446G>C	ENST00000370580.1	-	3	1303	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	189					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AAGTGTAGTTGAAGAGAAGAT	0.453000			T	IGH@	MALT								8	26					0	0	0.003080	0	0
XIRP2	129446	broad.mit.edu	37	2	167760139	167760139	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:167760139G>A	ENST00000409195.1	+	2	236	c.147G>A	c.(145-147)gaG>gaA	p.E49E	XIRP2_ENST00000409756.2_Silent_p.E49E|XIRP2_ENST00000409043.1_Silent_p.E49E|XIRP2_ENST00000409728.1_Silent_p.E49E|XIRP2_ENST00000295237.9_Silent_p.E49E|XIRP2_ENST00000420519.1_Silent_p.E49E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGAGGTAGTATCAG	0.488000													6	41					0	0	0.001984	0	0
ENGASE	64772	broad.mit.edu	37	17	77077994	77077994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:77077994C>T	ENST00000579016.1	+	7	887	c.887C>T	c.(886-888)tCc>tTc	p.S296F	ENGASE_ENST00000539857.2_Missense_Mutation_p.S110F	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	296	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TTCTTTGATTCCTGCGACGGC	0.622000													11	122					0	0	0.000978	0	0
HADH	3033	broad.mit.edu	37	4	108935703	108935703	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:108935703G>A	ENST00000505878.1	+	4	663	c.390G>A	c.(388-390)gtG>gtA	p.V130V	HADH_ENST00000403312.1_Silent_p.V185V|HADH_ENST00000309522.3_Silent_p.V126V|HADH_ENST00000454409.2_Silent_p.V130V|HADH_ENST00000603302.1_Silent_p.V126V			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	126					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATCTGAAGGTGAAAAACGAGC	0.448000													46	39					0	0	0.003610	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261530	57261530	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:57261530C>G	ENST00000278426.3	-	8	1162	c.807G>C	c.(805-807)gaG>gaC	p.E269D	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E269D|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	269					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCGAACCGTCCTCCAGGCTGG	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.003080	0	0
CDH26	60437	broad.mit.edu	37	20	58587739	58587739	+	Missense_Mutation	SNP	C	C	T	rs145724462	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:58587739C>T	ENST00000348616.4	+	18	2753	c.2453C>T	c.(2452-2454)gCg>gTg	p.A818V	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.A151V|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000244049.3_Missense_Mutation_p.A110V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTCAAAAGCGACTCCGTTT	0.453000													20	47					0	0	0.001882	0	0
OR8D1	283159	broad.mit.edu	37	11	124180000	124180000	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:124180000G>C	ENST00000357821.2	-	1	733	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGCTGTAGAGGATGAAGGCAT	0.512000													8	20					0	0	0.004482	0	0
FAM120C	54954	broad.mit.edu	37	X	54209178	54209178	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:54209178C>A	ENST00000375180.2	-	1	510	c.454G>T	c.(454-456)Gcg>Tcg	p.A152S	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.A152S|FAM120C_ENST00000328235.4_Missense_Mutation_p.A152S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	152										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCACAGCGCTGACAAGTAG	0.701000													4	24					0.00909568	0.00990352	0.009096	1	0
ZNF276	92822	broad.mit.edu	37	16	89799734	89799734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:89799734C>A	ENST00000289816.5	+	7	1281	c.969C>A	c.(967-969)agC>agA	p.S323R	ZNF276_ENST00000443381.2_Missense_Mutation_p.S398R|ZNF276_ENST00000568064.1_Missense_Mutation_p.S306R|ZNF276_ENST00000446326.2_Missense_Mutation_p.S184R	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGAGTGAAAGCAAAGAAGCCA	0.448000													14	93					0.000219431	0.000254848	0.002450	1	0
APOB	338	broad.mit.edu	37	2	21231013	21231013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21231013C>G	ENST00000233242.1	-	26	8854	c.8727G>C	c.(8725-8727)gaG>gaC	p.E2909D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2909					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTCTTGATCTCGTTGCGCA	0.468000													14	146					0	0	0.003163	0	0
ATRX	546	broad.mit.edu	37	X	76938254	76938254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:76938254C>A	ENST00000373344.5	-	9	2708	c.2494G>T	c.(2494-2496)Ggt>Tgt	p.G832C	ATRX_ENST00000395603.3_Missense_Mutation_p.G794C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	832					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGGcagcaccaattttactc	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	185					0.000978159	0.00109753	0.000978	1	0
VPS13D	55187	broad.mit.edu	37	1	12364726	12364726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:12364726C>T	ENST00000358136.3	+	26	6510	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2127F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2127					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)		CCCAGTACCTCCACCAAGCAG	0.547000													6	46					0	0	0.001984	0	0
SLTM	79811	broad.mit.edu	37	15	59192029	59192029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:59192029T>A	ENST00000380516.2	-	7	784	c.697A>T	c.(697-699)Acg>Tcg	p.T233S	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	233	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCACAGTCGTATGAGCTTCC	0.473000													10	57					0	0	0.000978	0	0
ZBP1	81030	broad.mit.edu	37	20	56188371	56188371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:56188371C>G	ENST00000340462.4	-	4	729	c.449G>C	c.(448-450)aGa>aCa	p.R150T	ZBP1_ENST00000371173.3_Missense_Mutation_p.R173T|ZBP1_ENST00000343535.4_Missense_Mutation_p.R173T|ZBP1_ENST00000395822.3_Missense_Mutation_p.R98T|ZBP1_ENST00000541799.1_Missense_Mutation_p.R173T			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	173						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGACTTTGCTCTTCTTCCAGA	0.453000													4	77					0	0	0.000602	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839703	109839703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:109839703T>A	ENST00000357155.1	-	4	588	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	180	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTGCACCGTGTATCCCAGAAG	0.577000													27	104					0	0	0.005443	0	0
FAM45B	55855	broad.mit.edu	37	X	129629658	129629658	+	RNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:129629658G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CTTACACACAGCACTGATGCT	0.483000													11	46					0	0	0.003163	0	0
CALN1	83698	broad.mit.edu	37	7	71252772	71252772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:71252772G>T	ENST00000395275.2	-	7	1162	c.774C>A	c.(772-774)agC>agA	p.S258R	CALN1_ENST00000412588.1_Missense_Mutation_p.S258R|CALN1_ENST00000405452.2_Missense_Mutation_p.S216R|CALN1_ENST00000395276.2_Missense_Mutation_p.S216R|CALN1_ENST00000329008.5_Missense_Mutation_p.S216R|CALN1_ENST00000431984.1_Missense_Mutation_p.S216R	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	216						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACTCCATGCCGCTCCGGAGTA	0.587000													9	24					0.000442599	0.000505174	0.006214	1	0
OR6K3	391114	broad.mit.edu	37	1	158687287	158687287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:158687287T>C	ENST00000368146.1	-	1	666	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	OR6K3_ENST00000368145.1_Missense_Mutation_p.I207V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGGTAATGATGATGGTCACA	0.448000													15	120					0	0	0.003163	0	0
RAG1	5896	broad.mit.edu	37	11	36596541	36596541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:36596541G>T	ENST00000299440.5	+	2	1799	c.1687G>T	c.(1687-1689)Gat>Tat	p.D563Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	563					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTCCGCTATGATTCAGCTTT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				8	42					0.00621372	0.0068104	0.006214	1	0
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43412359C>A	ENST00000310826.5	-	3	2029	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E616*|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E616*|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGGAATTTTTCATCCAAAACA	0.453000													7	78					2.17888e-05	2.60364e-05	0.006214	1	0
KIAA1407	57577	broad.mit.edu	37	3	113755597	113755597	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:113755597G>A	ENST00000295878.3	-	5	598	c.452C>T	c.(451-453)aCc>aTc	p.T151I	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	151										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTGAACGGTGGTACTTTCCTC	0.338000													6	30					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228432127	228432127	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:228432127G>C	ENST00000570156.2	+	12	3686	c.3612G>C	c.(3610-3612)aaG>aaC	p.K1204N	OBSCN_ENST00000422127.1_Missense_Mutation_p.K1112N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1112N|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	148	Ig-like 12.				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)				AGGATGGGAAGAAGCTGAGCT	0.617000													12	132					0	0	0.000978	0	0
COL4A3	1285	broad.mit.edu	37	2	228148568	228148568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:228148568G>C	ENST00000396578.3	+	33	2904	c.2742G>C	c.(2740-2742)caG>caC	p.Q914H	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	914	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACCAGGGCAGAGGGGTAAGT	0.448000													7	62					0	0	0.001984	0	0
HGF	3082	broad.mit.edu	37	7	81372711	81372711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:81372711C>A	ENST00000222390.5	-	7	1049	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	HGF_ENST00000453411.1_Missense_Mutation_p.D270Y|HGF_ENST00000457544.2_Missense_Mutation_p.D270Y|HGF_ENST00000444829.2_Missense_Mutation_p.D275Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	275	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTGTGAGGGTCAAGAGTATAG	0.478000													16	38					4.7546e-09	6.2951e-09	0.004007	1	0
MRPL39	54148	broad.mit.edu	37	21	26976215	26976215	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:26976215G>A	ENST00000307301.7	-	3	354	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	MRPL39_ENST00000352957.4_Silent_p.L105L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	105						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAGCCAGAATGGACTTC	0.363000													4	23					0	0	0.000602	0	0
MRPL1	65008	broad.mit.edu	37	4	78830471	78830471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:78830471A>T	ENST00000315567.8	+	7	1051	c.722A>T	c.(721-723)cAt>cTt	p.H241L		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	241							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAAATGGACATGAAATTAAG	0.308000													11	69					0	0	0.003163	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994092	106994092	+	RNA	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:106994092C>T	ENST00000390624.2	-	0	151																											CCCCCAGACTCCACCAGCTGC	0.542000													10	151					0	0	0.000978	0	0
SPAG5	10615	broad.mit.edu	37	17	26925630	26925630	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:26925630A>T	ENST00000321765.5	-	2	407	c.75T>A	c.(73-75)ccT>ccA	p.P25P		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	25					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTTCACGGAGAGGAGTTCTCA	0.587000													9	38					0	0	0.008291	0	0
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164737452C>A	ENST00000264382.3	-	28	3423	c.3361G>T	c.(3361-3363)Gca>Tca	p.A1121S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1121	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)	CGCTTAAATGCTGTATGTTCC	0.438000										HNSCC(35;0.089)			6	45					8.12818e-05	9.50682e-05	0.001984	1	0
CHPF	79586	broad.mit.edu	37	2	220404493	220404493	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:220404493A>G	ENST00000243776.6	-	4	2188	c.1940T>C	c.(1939-1941)tTc>tCc	p.F647S	CHPF_ENST00000535926.1_Missense_Mutation_p.F485S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	647						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTGGGTGGAAGGCTTGGAA	0.662000													7	87					0	0	0.001984	0	0
SIDT2	51092	broad.mit.edu	37	11	117062658	117062658	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:117062658G>C	ENST00000324225.4	+	19	2331	c.1800G>C	c.(1798-1800)ccG>ccC	p.P600P	SIDT2_ENST00000431081.2_Silent_p.P597P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	600						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGCGGCACCCGGACATCAACG	0.587000													6	75					0	0	0.001984	0	0
DPYD	1806	broad.mit.edu	37	1	98187218	98187218	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:98187218C>T	ENST00000370192.3	-	5	431	c.331G>A	c.(331-333)Gga>Aga	p.G111R	DPYD_ENST00000306031.5_Missense_Mutation_p.G111R|DPYD_ENST00000423006.2_Missense_Mutation_p.G74R	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	111					'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)	TTAGCAGCTCCATAATAGTTC	0.318000													5	26					0	0	0.000602	0	0
LYNX1	66004	broad.mit.edu	37	8	143857024	143857024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:143857024C>G	ENST00000398906.1	-	3	525	c.141G>C	c.(139-141)atG>atC	p.M47I	LYNX1_ENST00000523332.1_Missense_Mutation_p.M47I|LYNX1_ENST00000335822.5_Missense_Mutation_p.M47I|LYNX1_ENST00000395192.2_Missense_Mutation_p.M47I|LYNX1_ENST00000345173.6_Missense_Mutation_p.M47I	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	48	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCGCGTGGTCATGCAGTAGG	0.662000													4	13					0	0	0.009096	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:54678090G>C	ENST00000546500.1	+	9	1571	c.956G>C	c.(955-957)aGa>aCa	p.R319T	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R371T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGGCAGAAGATTTTAATTA	0.378000													9	21					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9089456	9089456	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:9089456T>A	ENST00000397910.4	-	1	2562	c.2359A>T	c.(2359-2361)Aat>Tat	p.N787Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	787	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						GAAGTTGCATTTCTGACTCTT	0.507000													25	128					0	0	0.004656	0	0
THNSL2	55258	broad.mit.edu	37	2	88484874	88484874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:88484874G>T	ENST00000324166.5	+	7	2796	c.1105G>T	c.(1105-1107)Gtg>Ttg	p.V369L	THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V369L|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	369					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATCCGTGTCAGTGTCGGATGA	0.572000													11	40					1.61879e-10	2.22332e-10	0.001368	1	0
TTC38	55020	broad.mit.edu	37	22	46682990	46682990	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:46682990C>T	ENST00000381031.3	+	10	931	c.855C>T	c.(853-855)gcC>gcT	p.A285A	TTC38_ENST00000445282.2_Silent_p.A227A	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	285							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCCTGCAGGCCAACGATGCAA	0.647000													9	15					0	0	0.004482	0	0
TMEM255B	348013	broad.mit.edu	37	13	114504650	114504650	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:114504650T>A	ENST00000375353.3	+	7	561	c.534T>A	c.(532-534)taT>taA	p.Y178*		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCGCCTACTATGAGTTCATCG	0.627000													5	19					0	0	0.001168	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121908	90121908	+	RNA	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:90121908C>A	ENST00000483379.1	+	0	307																											ACAGAGTCACCATCACTTGTC	0.478000													22	355					2.37509e-13	3.33117e-13	0.010504	1	0
EPHB1	2047	broad.mit.edu	37	3	134670690	134670690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:134670690C>T	ENST00000398015.3	+	3	971	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	201	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCATTGTGCAAAATTTTGC	0.478000													32	135					0	0	0.002096	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411294	43411294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr21:43411294C>A	ENST00000310826.5	-	3	3094	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E971*|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E971*|ZBTB21_ENST00000398505.3_Nonsense_Mutation_p.E770*	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ACCTCAGATTCCTTATGTGCC	0.537000													8	72					2.17888e-05	2.60364e-05	0.006214	1	0
OR4N2	390429	broad.mit.edu	37	14	20296152	20296152	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20296152C>T	ENST00000315947.1	+	1	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGATGTCCCACAGGTCATC	0.537000													39	154					0	0	0.007835	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													3	21					0	0	0.009096	0	0
KIF16B	55614	broad.mit.edu	37	20	16352372	16352372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:16352372G>A	ENST00000354981.2	-	21	3542	c.3385C>T	c.(3385-3387)Cgc>Tgc	p.R1129C	KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129C|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGAAGGCGTCTTTGGACT	0.438000													6	44					0	0	0.001168	0	0
NT5C3A	51251	broad.mit.edu	37	7	33057183	33057183	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:33057183G>A	ENST00000396152.2	-	8	761	c.459C>T	c.(457-459)ctC>ctT	p.L153L	NT5C3A_ENST00000409467.1_Silent_p.L141L|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Silent_p.L192L|NT5C3A_ENST00000409787.1_Silent_p.L153L|NT5C3A_ENST00000381626.2_Silent_p.L141L|NT5C3A_ENST00000405342.1_Silent_p.L153L	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		TATGTTGTTGGAGCTTATCAA	0.373000													35	42					0	0	0.004878	0	0
GMIP	51291	broad.mit.edu	37	19	19753363	19753363	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:19753363C>T	ENST00000203556.4	-	2	222	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GMIP_ENST00000445806.2_Missense_Mutation_p.E29K|GMIP_ENST00000587238.1_Missense_Mutation_p.E29K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	29					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGTGAGATTTCGAGGTTGTCC	0.567000													25	117					0	0	0.004656	0	0
USP28	57646	broad.mit.edu	37	11	113679033	113679033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113679033G>A	ENST00000003302.4	-	18	2359	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	USP28_ENST00000544967.1_Missense_Mutation_p.A472V|USP28_ENST00000260188.5_Missense_Mutation_p.A764V|USP28_ENST00000545540.1_Missense_Mutation_p.A639V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	764					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTCAGTGCCGCTTCTACACC	0.517000													28	104					0	0	0.008361	0	0
UNC79	57578	broad.mit.edu	37	14	94084571	94084571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:94084571C>A	ENST00000553484.1	+	30	4478	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	UNC79_ENST00000393151.2_Missense_Mutation_p.L1420M|UNC79_ENST00000256339.4_Missense_Mutation_p.L1243M|UNC79_ENST00000555664.1_Missense_Mutation_p.L1420M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1420						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						CAGCAAGATCCTGCTGCATCT	0.438000													8	29					5.4927e-09	7.24337e-09	0.004482	1	0
CSMD1	64478	broad.mit.edu	37	8	2808709	2808709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr8:2808709G>T	ENST00000602557.1	-	67	10686	c.10131C>A	c.(10129-10131)gaC>gaA	p.D3377E	CSMD1_ENST00000400186.3_Missense_Mutation_p.D3200E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3199E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3376E|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3200E|CSMD1_ENST00000520002.1_Missense_Mutation_p.D3377E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3377						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)		CATTGAACCAGTCAACAGTTA	0.473000													9	11					1.61879e-10	2.22332e-10	0.001368	1	0
CDKL4	344387	broad.mit.edu	37	2	39414782	39414782	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:39414782C>G	ENST00000378803.1	-	6	720	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CDKL4_ENST00000395035.3_Missense_Mutation_p.E241Q	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	241	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCTTCTGGCTCAGGTATACTG	0.313000													4	33					0	0	0.009096	0	0
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:3451002C>T	ENST00000382774.3	+	14	1939	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	HGFAC_ENST00000511533.1_Silent_p.G615G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	608	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.G608G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677000													14	72					0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561291	11561291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:11561291G>A	ENST00000294484.6	+	2	380	c.242G>A	c.(241-243)gGc>gAc	p.G81D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G81D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	81					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCTTCCTGGGCTGCAGCATC	0.612000													11	69					0	0	0.001368	0	0
NCOR2	9612	broad.mit.edu	37	12	124821386	124821386	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr12:124821386C>G	ENST00000356219.3	-	39	6204	c.6049G>C	c.(6049-6051)Gcg>Ccg	p.A2017P	NCOR2_ENST00000397355.1_Missense_Mutation_p.A2001P|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2000P|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1571P|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2010P|NCOR2_ENST00000404621.1_Missense_Mutation_p.A2000P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2021					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGTGGCGCCGGCGGGTCC	0.662000													5	23					0	0	0.000602	0	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:99795408A>G	ENST00000426455.1	+	11	1480	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	STAG3_ENST00000317296.5_Missense_Mutation_p.E358G|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300G			Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562000													10	111					0	0	0.000978	0	0
SVEP1	79987	broad.mit.edu	37	9	113194760	113194760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:113194760C>T	ENST00000401783.2	-	31	5551	c.5215G>A	c.(5215-5217)Gtt>Att	p.V1739I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1716I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1739	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGTGAAACGCCGTTCCAG	0.443000													16	61					0	0	0.006122	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216239	20216239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr14:20216239C>A	ENST00000331723.1	+	1	653	c.653C>A	c.(652-654)tCt>tAt	p.S218Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S218F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTATTCTCTTATGCTATC	0.507000													8	71					1.26484e-09	1.68816e-09	0.003080	1	0
AMBP	259	broad.mit.edu	37	9	116824992	116824992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:116824992C>T	ENST00000265132.3	-	7	912	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	217	Glycopeptide (secretory piece).				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGTTGCCCACCCCCTGATCC	0.542000													17	66					0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	32328364	32328364	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:32328364C>T	ENST00000357033.4	-	42	6158	c.5952G>A	c.(5950-5952)gtG>gtA	p.V1984V	DMD_ENST00000378677.2_Silent_p.V1980V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1984					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCAGTCATCACCATCATCG	0.368000													4	15					0	0	0.001168	0	0
LILRB3	11025	broad.mit.edu	37	19	54726852	54726852	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:54726852G>A	ENST00000391750.1	-	0	133				LILRB3_ENST00000424807.1_De_novo_Start_OutOfFrame|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_De_novo_Start_OutOfFrame			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGTCATGGCGTCTCCTCCCG	0.642000													6	56					0	0	0.001168	0	0
GPR125	166647	broad.mit.edu	37	4	22390066	22390066	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:22390066G>A	ENST00000334304.5	-	19	3497	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1076					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGAGTTGGGGGGCTGGACGT	0.498000													5	27					0	0	0.000602	0	0
ZNF496	84838	broad.mit.edu	37	1	247492647	247492647	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:247492647C>T	ENST00000294753.4	-	3	698	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZNF496_ENST00000366498.2_Silent_p.K78K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	78	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAATCTGCTCCTTGGTGTGCC	0.711000													11	91					0	0	0.008291	0	0
DHRS9	10170	broad.mit.edu	37	2	169938262	169938262	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:169938262C>T	ENST00000327239.4	+	5	1675	c.171C>T	c.(169-171)atC>atT	p.I57I	DHRS9_ENST00000432060.2_Silent_p.I117I|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Silent_p.I57I|DHRS9_ENST00000436483.2_Silent_p.I57I|DHRS9_ENST00000428522.1_Silent_p.I57I|DHRS9_ENST00000357546.2_Silent_p.I57I|DHRS9_ENST00000412271.1_Silent_p.I57I	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	57					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCATGTAATCGCTGCCTGTC	0.433000													20	39					0	0	0.008871	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502131	90502131	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:90502131G>A	ENST00000325643.5	+	4	2795	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGAACAACAAGCAAGTCAGTC	0.597000													7	40					0	0	0.003080	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:26045730C>T	ENST00000540144.1	+	1	92	c.92C>T	c.(91-93)cCg>cTg	p.P31L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	31					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						AAGAGCGCTCCGGCCACCGGT	0.612000													7	72					0	0	0.001984	0	0
HARS	3035	broad.mit.edu	37	5	140070834	140070834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr5:140070834C>G	ENST00000504156.1	-	1	775	c.56G>C	c.(55-57)cGa>cCa	p.R19P	HARS_ENST00000457527.2_Missense_Mutation_p.R19P|HARS_ENST00000438307.2_Missense_Mutation_p.R19P|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000431330.2_Missense_Mutation_p.R19P|HARS_ENST00000307633.3_Missense_Mutation_p.R19P|HARS_ENST00000415192.2_Missense_Mutation_p.R19P	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	19	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTTGAGGCCTCGCACGCGCTC	0.647000													3	23					0	0	0.004672	0	0
RRBP1	6238	broad.mit.edu	37	20	17640864	17640864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:17640864G>A	ENST00000377813.1	-	3	592	c.289C>T	c.(289-291)Cga>Tga	p.R97*	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.R97*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.R97*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.R97*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	97					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACTGGTTCTCGAAGGAGGACA	0.542000													5	19					0	0	0.000602	0	0
FAM195A	84331	broad.mit.edu	37	16	698178	698178	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:698178C>A	ENST00000307650.4	+	5	650	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	157										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						CGAGAATCACCAGCTGTTCCT	0.657000													4	19					0.00909568	0.00990352	0.009096	1	0
CTSZ	1522	broad.mit.edu	37	20	57576612	57576612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:57576612C>A	ENST00000217131.5	-	3	513	c.395G>T	c.(394-396)tGt>tTt	p.C132F		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	132					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACCCCCTTCACAGGAGCCAGC	0.602000													8	46					5.18039e-06	6.35078e-06	0.003080	1	0
NPSR1	387129	broad.mit.edu	37	7	34867158	34867158	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:34867158C>A	ENST00000360581.1	+	5	752	c.624C>A	c.(622-624)acC>acA	p.T208T	NPSR1_ENST00000381542.1_Silent_p.T142T|NPSR1_ENST00000381539.3_Silent_p.T208T|NPSR1_ENST00000359791.1_Silent_p.T208T|NPSR1_ENST00000531252.1_Silent_p.T197T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	208						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTACTGGACCCCATACATGA	0.572000													11	130					9.31168e-06	1.13315e-05	0.001855	1	0
PIPSL	266971	broad.mit.edu	37	10	95720287	95720287	+	RNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:95720287G>A	ENST00000480546.1	-	0	1010					NR_002319.2																						ATTGTGTTTCGCTGCTTAAGG	0.488000													6	55					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:49051255C>G	ENST00000395474.3	+	2	2658	c.2378C>G	c.(2377-2379)tCa>tGa	p.S793*	WDR6_ENST00000415265.2_Nonsense_Mutation_p.S211*|WDR6_ENST00000448293.1_Nonsense_Mutation_p.S712*	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	763					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)		ACCACAGGCTCAGCCCACGCA	0.577000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179427449	179427449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:179427449C>T	ENST00000589042.1	-	326	83634	c.83410G>A	c.(83410-83412)Gaa>Aaa	p.E27804K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18931K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25236K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18864K|TTN_ENST00000460472.2_Missense_Mutation_p.E18739K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26163K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26163	Ig-like 130.						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)			TCTCGTTTTTCGACAATGTAG	0.358000													14	35					0	0	0.001855	0	0
DST	667	broad.mit.edu	37	6	56458704	56458704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:56458704C>A	ENST00000370754.5	-	48	12389	c.12390G>T	c.(12388-12390)gaG>gaT	p.E4130D	DST_ENST00000370769.4_Missense_Mutation_p.E3952D|DST_ENST00000421834.2_Missense_Mutation_p.E1864D|DST_ENST00000446842.2_Missense_Mutation_p.E3626D|DST_ENST00000370788.2_Missense_Mutation_p.E1864D|DST_ENST00000361203.3_Missense_Mutation_p.E3950D|DST_ENST00000312431.6_Missense_Mutation_p.E3950D|DST_ENST00000244364.6_Missense_Mutation_p.E1538D			Q03001	DYST_HUMAN	dystonin	3950					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)			CTGCACCTGCCTCCAGGTTTT	0.413000													13	116					0.00136819	0.00152482	0.001368	1	0
PCLO	27445	broad.mit.edu	37	7	82545902	82545902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:82545902G>T	ENST00000423517.2	-	7	11737	c.11400C>A	c.(11398-11400)taC>taA	p.Y3800*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Y520*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Y3800*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3731	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATTTCCAGGTATCGTAGCT	0.443000													14	67					1.05317e-09	1.41707e-09	0.002450	1	0
DNAI2	64446	broad.mit.edu	37	17	72301536	72301536	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:72301536G>T	ENST00000579490.1	+	8	1472	c.1337G>T	c.(1336-1338)cGc>cTc	p.R446L	DNAI2_ENST00000307504.5_Missense_Mutation_p.R246L|DNAI2_ENST00000582036.1_Missense_Mutation_p.R389L|DNAI2_ENST00000311014.6_Missense_Mutation_p.R389L|DNAI2_ENST00000446837.2_Missense_Mutation_p.R389L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	389					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGACAGCCCGCATTTGGTCT	0.592000									Kartagener syndrome				16	27					2.32078e-09	3.08506e-09	0.003163	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847083	47847083	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:47847083C>A	ENST00000339488.4	-	3	1530	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	499						integral to membrane	hedgehog receptor activity										AAACACTTGGCGAATCACTGG	0.453000													18	23					0.00074312	0.000839498	0.006122	1	0
C15orf57	90416	broad.mit.edu	37	15	40855224	40855224	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr15:40855224G>C	ENST00000558750.1	-	2	217	c.18C>G	c.(16-18)ctC>ctG	p.L6L	C15orf57_ENST00000561011.1_5'UTR|C15orf57_ENST00000558113.1_5'UTR|C15orf57_ENST00000558871.1_5'UTR|C15orf57_ENST00000560305.1_5'UTR|C15orf57_ENST00000416810.2_5'UTR|C15orf57_ENST00000358005.3_5'UTR|C15orf57_ENST00000559911.1_5'UTR|C15orf57_ENST00000560109.1_5'UTR			Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TTTGGAATCTGAGCTATAAAA	0.443000													4	95					0	0	0.009096	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931014	22931014	+	RNA	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:22931014A>G	ENST00000390302.2	+	0	267																											CTCCTGATTTACAATGTCAAT	0.517000													76	224					0	0	0.003610	0	0
FLRT3	23767	broad.mit.edu	37	20	14306548	14306548	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr20:14306548C>T	ENST00000378053.3	-	2	1861	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.G535G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	535					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGCCACAGCCCCACCAATGA	0.473000													4	78					0	0	0.009096	0	0
ZNF585A	199704	broad.mit.edu	37	19	37660826	37660826	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:37660826C>G	ENST00000585860.2	-	4	565	c.423G>C	c.(421-423)gaG>gaC	p.E141D	ZNF585A_ENST00000588354.1_5'UTR|ZNF585A_ENST00000392157.2_5'UTR|ZNF585A_ENST00000356958.4_5'UTR|ZNF585A_ENST00000292841.5_5'UTR|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_5'UTR																							CACACTGGGTCTCAACCCTTT	0.527000													10	13					0	0	0.006214	0	0
PRSS22	64063	broad.mit.edu	37	16	2903248	2903248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr16:2903248G>C	ENST00000161006.3	-	6	865	c.800C>G	c.(799-801)gCc>gGc	p.A267G	PRSS22_ENST00000571228.1_Missense_Mutation_p.A157G	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTTGCGCTCGGCACAGCCCTC	0.716000													6	17					0	0	0.001984	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957358	39957358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:39957358A>G	ENST00000599117.1	+	14	1377	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q337R|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q333R|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q333R|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q337R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	337	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCCTCCACAGAGGCTGTTT	0.577000													16	65					0	0	0.004007	0	0
C11orf84	144097	broad.mit.edu	37	11	63585711	63585711	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:63585711G>A	ENST00000294244.4	+	3	780	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	161	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGCCCACCCAGACCCAGACGC	0.602000													10	87					0	0	0.006214	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406331	33406331	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:33406331G>C	ENST00000418600.2	+	9	1623	c.1522G>C	c.(1522-1524)Gat>Cat	p.D508H	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.D449H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.D508H|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	508	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATACCTCAAGGATGCCATTGG	0.522000													5	120					0	0	0.000602	0	0
EIF3A	8661	broad.mit.edu	37	10	120802184	120802184	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:120802184G>A	ENST00000369144.3	-	19	2975	c.2848C>T	c.(2848-2850)Ctt>Ttt	p.L950F	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.L916F	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	950	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTGGTCTAAGAGAGGGCTCT	0.582000													23	135					0	0	0.001882	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291161	141291161	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:141291161A>G	ENST00000247452.3	-	3	960	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	205	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AACACACAGAAGTGGTCAGGG	0.478000										HNSCC(46;0.14)			27	120					0	0	0.003954	0	0
ZNF99	7652	broad.mit.edu	37	19	22940023	22940023	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22940023C>A	ENST00000397104.3	-	6	2307	c.2308G>T	c.(2308-2310)Ggg>Tgg	p.G770W						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTCCCAGTATAAATT	0.373000													7	38					2.0095e-06	2.50054e-06	0.001984	1	0
AOX1	316	broad.mit.edu	37	2	201515740	201515740	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:201515740A>T	ENST00000374700.2	+	26	3132	c.2891A>T	c.(2890-2892)tAc>tTc	p.Y964F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	964					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAACACCCTACAAACAAGAG	0.418000													13	58					0	0	0.001855	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949867	45949867	+	Missense_Mutation	SNP	C	C	T	rs150478912		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:45949867C>T	ENST00000531526.1	+	13	2005	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R632C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R632C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R601C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R601C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.627000													18	153					0	0	0.007413	0	0
GAK	2580	broad.mit.edu	37	4	884359	884359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:884359G>A	ENST00000314167.4	-	10	1152	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	GAK_ENST00000511163.1_Missense_Mutation_p.P269S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	348	Poly-Pro.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACGGGAGGGGGTGGCCCTCGG	0.647000													6	36					0	0	0.001984	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453257	50453257	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50453257C>T	ENST00000447370.2	-	11	2157	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	SIGLEC11_ENST00000426971.2_Silent_p.E593E|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	689					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACATCTCCCTCTCCAATTGAA	0.597000													6	17					0	0	0.001168	0	0
OR6V1	346517	broad.mit.edu	37	7	142749587	142749587	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr7:142749587C>T	ENST00000418316.1	+	1	171	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCATAGCTGACACCCACCTAC	0.502000													59	201					0	0	0.003610	0	0
RNF17	56163	broad.mit.edu	37	13	25417962	25417962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr13:25417962A>G	ENST00000255324.5	+	20	2736	c.2684A>G	c.(2683-2685)cAc>cGc	p.H895R	RNF17_ENST00000381921.1_Missense_Mutation_p.H895R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	895					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGAAGTACACAACTTAAAT	0.313000													4	18					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCCACAGCTGCACAGGGCAG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	36					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451585	37451585	+	Missense_Mutation	SNP	G	G	T	rs67979396		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr10:37451585G>T	ENST00000374660.1	+	16	1840	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G581W|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G581W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	637						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGCCTCCGGGGAAGCCATC	0.318000													16	65					6.94344e-10	9.38073e-10	0.006122	1	0
TLR8	51311	broad.mit.edu	37	X	12937480	12937480	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chrX:12937480C>A	ENST00000218032.6	+	2	408	c.321C>A	c.(319-321)ccC>ccA	p.P107P	TLR8_ENST00000311912.5_Silent_p.P125P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	107					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACGGAAATCCCGGTATACAAT	0.408000													19	101					6.94344e-10	9.38073e-10	0.006122	1	0
APOB	338	broad.mit.edu	37	2	21224710	21224710	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:21224710G>A	ENST00000233242.1	-	29	13711	c.13584C>T	c.(13582-13584)taC>taT	p.Y4528Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4528					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAATGTGTGGTAGTTTTGAA	0.363000													23	75					0	0	0.001882	0	0
SI	6476	broad.mit.edu	37	3	164786586	164786586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr3:164786586G>T	ENST00000264382.3	-	5	469	c.407C>A	c.(406-408)cCt>cAt	p.P136H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	136	Isomaltase.				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)	AAATAGTGTAGGTGAAGGTAT	0.333000										HNSCC(35;0.089)			7	44					5.18039e-06	6.35078e-06	0.003080	1	0
ZNF718	255403	broad.mit.edu	37	4	155318	155318	+	RNA	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:155318A>C	ENST00000510175.1	+	0	753							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGCACAAAAATACTACAAAT	0.363000													5	29					0	0	0.001168	0	0
AGO2	27161	broad.mit.edu	37	8	141583013	141583013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:141583013C>T	ENST00000220592.5	-	3	346	c.234G>A	c.(232-234)atG>atA	p.M78I	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Missense_Mutation_p.M78I	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AGTGCTGGACCATGTGTTCCA	0.443000													5	64					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167085246	167085246	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:167085246C>T	ENST00000375387.4	-	22	4504	c.4164G>A	c.(4162-4164)gtG>gtA	p.V1388V	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.V1388V|SCN9A_ENST00000409672.1_Silent_p.V1376V|SCN9A_ENST00000409435.1_Silent_p.V1387V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1387						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)	TATCAAAGTTCACTTTCAGGT	0.398000													5	127					0	0	0.001168	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256429	15256429	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:15256429C>T	ENST00000378116.4	-	8	1164	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	386						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCGGGGGCCTCGGGGCGGC	0.607000													9	38					0	0	0.004482	0	0
CARD11	84433	broad.mit.edu	37	7	2984046	2984046	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:2984046C>T	ENST00000396946.4	-	5	887	c.484G>A	c.(484-486)Gag>Aag	p.E162K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	162					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCTTCTTCTCATCCTCCAGC	0.577000			Mis		DLBCL								9	112					0	0	0.008291	0	0
LILRB5	10990	broad.mit.edu	37	19	54758820	54758820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:54758820G>A	ENST00000450632.1	-	6	1083	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	LILRB5_ENST00000345866.6_Nonsense_Mutation_p.Q245*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.Q345*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.Q345*			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	345					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCATGACTGACACAGCAGG	0.567000													4	41					0	0	0.009096	0	0
OR10G7	390265	broad.mit.edu	37	11	123909323	123909323	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:123909323A>T	ENST00000330487.5	-	1	394	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTGTACCTGAGCGGGTAACT	0.557000													24	106					0	0	0.003330	0	0
OR6T1	219874	broad.mit.edu	37	11	123813876	123813876	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:123813876T>A	ENST00000321252.2	-	1	704	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGAGAACAGTGGCAAGAATG	0.532000													6	32					0	0	0.001168	0	0
HCN1	348980	broad.mit.edu	37	5	45262226	45262226	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:45262226C>T	ENST00000303230.4	-	8	2527	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	824						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGCCCGTTCCGGGGACCGCC	0.677000													4	36					0	0	0.000602	0	0
XRN1	54464	broad.mit.edu	37	3	142095375	142095375	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:142095375T>A	ENST00000264951.4	-	24	2894	c.2777A>T	c.(2776-2778)tAc>tTc	p.Y926F	XRN1_ENST00000392981.2_Missense_Mutation_p.Y926F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	926					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAAACAAGGTATCCACTCAC	0.323000													3	8					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153577354	153577354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:153577354C>A	ENST00000422373.1	-	47	8031	c.7783G>T	c.(7783-7785)Gag>Tag	p.E2595*	FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2595*|FLNA_ENST00000369856.3_Nonsense_Mutation_p.E736*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2603*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2563*|FLNA_ENST00000498491.1_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2603	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGATCTCCTCGCAGGGG	0.637000													9	26					0.000274275	0.000320147	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179406266	179406266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:179406266C>T	ENST00000589042.1	-	350	97762	c.97538G>A	c.(97537-97539)cGt>cAt	p.R32513H	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29945H|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30872H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23640H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23573H|TTN_ENST00000460472.2_Missense_Mutation_p.R23448H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30872	Ig-like 143.						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)			CATGCCATCACGGGAAACATC	0.458000													6	16					0	0	0.001168	0	0
FOLH1	2346	broad.mit.edu	37	11	49196483	49196483	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:49196483A>C	ENST00000340334.7	-	10	1389	c.1021T>G	c.(1021-1023)Tac>Gac	p.Y341D	FOLH1_ENST00000343844.4_Missense_Mutation_p.Y48D|FOLH1_ENST00000256999.2_Missense_Mutation_p.Y356D|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.Y341D|FOLH1_ENST00000356696.3_Missense_Mutation_p.Y356D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	356	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCACATTGTAAATTCTTGTC	0.348000													7	39					0	0	0.003080	0	0
PHF2	5253	broad.mit.edu	37	9	96421880	96421880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:96421880G>T	ENST00000359246.4	+	11	1694	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	443					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGGCTCAGTGAGGTGGGGCC	0.617000													12	14					3.03607e-14	4.40296e-14	0.001368	1	0
NPSR1	387129	broad.mit.edu	37	7	34867159	34867159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:34867159C>A	ENST00000360581.1	+	5	753	c.625C>A	c.(625-627)Cca>Aca	p.P209T	NPSR1_ENST00000381539.3_Missense_Mutation_p.P209T|NPSR1_ENST00000531252.1_Missense_Mutation_p.P198T|NPSR1_ENST00000359791.1_Missense_Mutation_p.P209T|NPSR1_ENST00000381542.1_Missense_Mutation_p.P143T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	209						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACTGGACCCCATACATGAC	0.577000													12	130					1.49906e-05	1.8395e-05	0.002450	1	0
SNW1	22938	broad.mit.edu	37	14	78189553	78189553	+	Silent	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:78189553C>G	ENST00000261531.7	-	11	1163	c.1101G>C	c.(1099-1101)cgG>cgC	p.R367R	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Silent_p.R205R|SNW1_ENST00000555761.1_Silent_p.R367R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	367					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGGAAAGATTCCGGTCATGCT	0.507000													13	80					0	0	0.002450	0	0
MPPED2	744	broad.mit.edu	37	11	30557637	30557637	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:30557637C>A	ENST00000448418.2	-	3	574	c.214G>T	c.(214-216)Ggt>Tgt	p.G72C	MPPED2_ENST00000358117.5_Missense_Mutation_p.G72C	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	72					nervous system development		hydrolase activity|metal ion binding	p.G72C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATCTGGATACCATCTGTTCTG	0.502000													13	21					4.3838e-07	5.67017e-07	0.001855	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43825133	43825133	+	Splice_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:43825133A>T	ENST00000389420.3	-	22	3261		c.e22+1		ADAMTS20_ENST00000395541.2_Splice_Site|ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20							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)		TCATATACTCACAGGACCCCA	0.388000													12	48					0	0	0.001855	0	0
MMP21	118856	broad.mit.edu	37	10	127461230	127461230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:127461230C>T	ENST00000368808.3	-	3	786	c.787G>A	c.(787-789)Gac>Aac	p.D263N		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	263			D -> E (in dbSNP:rs34811493).		proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTGCTCGTCGTCGTCAAAG	0.622000													10	50					0	0	0.008291	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886812	47886812	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:47886812C>G	ENST00000396105.1	-	3	1783	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E513Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E513Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	513							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGTAGGCCTCAAAGTATGCA	0.522000													5	58					0	0	0.000602	0	0
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408000													4	53					0	0	0.009096	0	0
TRPS1	7227	broad.mit.edu	37	8	116426524	116426524	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:116426524T>C	ENST00000395715.3	-	7	4189	c.3612A>G	c.(3610-3612)gtA>gtG	p.V1204V	TRPS1_ENST00000519076.1_Silent_p.V945V|TRPS1_ENST00000520276.1_Silent_p.V1195V|TRPS1_ENST00000220888.5_Silent_p.V1191V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1191	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCATTTTTTACATTTGGTG	0.423000									Langer-Giedion syndrome				13	42					0	0	0.001368	0	0
TLL1	7092	broad.mit.edu	37	4	166924542	166924542	+	Splice_Site	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:166924542G>C	ENST00000061240.2	+	6	1279		c.e6-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTATTCCAGATGCTGCTCC	0.418000													7	52					0	0	0.004482	0	0
CRNN	49860	broad.mit.edu	37	1	152382721	152382721	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:152382721G>A	ENST00000271835.3	-	3	899	c.837C>T	c.(835-837)agC>agT	p.S279S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	279	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAGCCTGGCTGGTCTGGC	0.607000													55	437					0	0	0.003610	0	0
PDE5A	8654	broad.mit.edu	37	4	120528141	120528141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:120528141A>T	ENST00000354960.3	-	2	783	c.464T>A	c.(463-465)tTa>tAa	p.L155*	PDE5A_ENST00000394439.1_Nonsense_Mutation_p.L103*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.L113*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	155					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATCCTTCACTAATTCCAAGAG	0.438000													5	40					0	0	0.000602	0	0
RRP8	23378	broad.mit.edu	37	11	6622800	6622800	+	Missense_Mutation	SNP	C	C	T	rs142207265	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:6622800C>T	ENST00000254605.6	-	3	613	c.496G>A	c.(496-498)Gat>Aat	p.D166N	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	166					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TTTGGTGGATCATTTGTAGTA	0.512000													6	78					0	0	0.001168	0	0
NUAK2	81788	broad.mit.edu	37	1	205290688	205290688	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:205290688C>A	ENST00000367157.3	-	1	195	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	23					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)			GCCCTTCCGCCAGCGGCCGGG	0.682000													8	52					0.00307968	0.00340493	0.003080	1	0
OR4A15	81328	broad.mit.edu	37	11	55136241	55136241	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:55136241C>A	ENST00000314706.3	+	1	882	c.882C>A	c.(880-882)ccC>ccA	p.P294P		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P294P(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACTTTTCCCATTGATAAAT	0.403000													38	135					1.07637e-12	1.52789e-12	0.004878	1	0
PTCH1	5727	broad.mit.edu	37	9	98241374	98241374	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:98241374G>A	ENST00000430669.2	-	8	1510	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	PTCH1_ENST00000437951.1_Missense_Mutation_p.H309Y|PTCH1_ENST00000331920.6_Missense_Mutation_p.H375Y|PTCH1_ENST00000418258.1_Missense_Mutation_p.H224Y|PTCH1_ENST00000421141.1_Missense_Mutation_p.H224Y|PTCH1_ENST00000375274.2_Missense_Mutation_p.H374Y|PTCH1_ENST00000429896.2_Missense_Mutation_p.H224Y			Q13635	PTC1_HUMAN	patched 1	375					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCTTGAAGTGCTCGTACATT	0.537000													9	51					0	0	0.006214	0	0
ITGA4	3676	broad.mit.edu	37	2	182347286	182347286	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:182347286G>T	ENST00000397033.2	+	9	1379	c.949G>T	c.(949-951)Gca>Tca	p.A317S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	317					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGACCTCAATGCAGATGGCTT	0.498000													21	191					2.32416e-17	3.41488e-17	0.002299	1	0
OR13C5	138799	broad.mit.edu	37	9	107361392	107361392	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:107361392C>T	ENST00000374779.2	-	1	396	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGCTGAGGAACATCTGCACTG	0.517000													8	110					0	0	0.008291	0	0
PUM1	9698	broad.mit.edu	37	1	31532134	31532134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:31532134C>A	ENST00000373747.3	-	2	379	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	PUM1_ENST00000424085.2_Missense_Mutation_p.G94W|PUM1_ENST00000440538.2_Missense_Mutation_p.G94W|PUM1_ENST00000257075.5_Missense_Mutation_p.G94W|PUM1_ENST00000426105.2_Missense_Mutation_p.G94W|PUM1_ENST00000423018.2_Missense_Mutation_p.G94W|PUM1_ENST00000373741.4_Missense_Mutation_p.G130W|PUM1_ENST00000373742.2_Missense_Mutation_p.G130W	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	94					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCTCCTCCCCCAAGCTGCTCA	0.507000													16	43					7.07596e-05	8.49622e-05	0.006122	1	0
BTN3A1	11119	broad.mit.edu	37	6	26410240	26410240	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:26410240G>C	ENST00000289361.6	+	7	1312	c.944G>C	c.(943-945)aGa>aCa	p.R315T	BTN3A1_ENST00000425234.2_Missense_Mutation_p.R315T|BTN3A1_ENST00000414912.2_Missense_Mutation_p.R263T|BTN3A1_ENST00000476549.2_Missense_Mutation_p.R315T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	315					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCAGGATGGAGAAGTATCCAG	0.463000													6	177					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90166906	90166906	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:90166906G>C	ENST00000268138.7	+	20	3470	c.3365G>C	c.(3364-3366)aGa>aCa	p.R1122T	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.R1121T					TOPBP1-interacting checkpoint and replication regulator																		ACTACACCAAGAAGGATCTCT	0.413000													5	168					0	0	0.000602	0	0
SCN3A	6328	broad.mit.edu	37	2	165997469	165997469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:165997469G>A	ENST00000360093.3	-	13	2202	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R571C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R571C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	571						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)	TTGCTATTGCGTCTTGGGGAA	0.443000													6	45					0	0	0.001168	0	0
PLK3	1263	broad.mit.edu	37	1	45270044	45270044	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:45270044A>T	ENST00000372201.4	+	12	1615	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	459						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCCAGCCAGAGCCTCTGGTG	0.617000													33	115					0	0	0.003271	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885892	88885892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:88885892G>T	ENST00000319675.3	-	1	404	c.308C>A	c.(307-309)aCc>aAc	p.T103N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	103								p.T103N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCTCGCATGGTGATGATGCC	0.542000													44	76					1.81118e-26	2.69665e-26	0.003610	1	0
UMOD	7369	broad.mit.edu	37	16	20347991	20347991	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:20347991T>A	ENST00000396134.2	-	10	2021	c.1898A>T	c.(1897-1899)aAc>aTc	p.N633I	UMOD_ENST00000302509.4_Missense_Mutation_p.N600I|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.N633I|UMOD_ENST00000396142.2_Missense_Mutation_p.N600I|UMOD_ENST00000396138.4_Missense_Mutation_p.N649I|UMOD_ENST00000570689.1_Missense_Mutation_p.N600I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	600					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGACCCAAGTTCAGGACACG	0.527000													18	31					0	0	0.002780	0	0
ZNF618	114991	broad.mit.edu	37	9	116779005	116779005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:116779005G>T	ENST00000288466.7	+	10	848	c.749G>T	c.(748-750)gGc>gTc	p.G250V	ZNF618_ENST00000374126.5_Missense_Mutation_p.G262V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAATTCTGCGGCAAACAGTAC	0.552000													4	22					0.000602214	0.000686197	0.000602	1	0
TRPC5	7224	broad.mit.edu	37	X	111078148	111078148	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:111078148C>T	ENST00000262839.2	-	7	2815		c.e7+1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTACTCACGGCAATAAGC	0.448000													29	127					0	0	0.006320	0	0
OPA1	4976	broad.mit.edu	37	3	193372741	193372741	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:193372741A>T	ENST00000361510.2	+	22	2337	c.2103A>T	c.(2101-2103)tcA>tcT	p.S701S	OPA1_ENST00000361150.2_Silent_p.S647S|OPA1_ENST00000361908.3_Silent_p.S683S|OPA1_ENST00000361828.2_Silent_p.S664S|OPA1_ENST00000361715.2_Silent_p.S665S|OPA1_ENST00000392438.3_Silent_p.S646S	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	646			Missing (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCATGAATTCAGGAACTTTTA	0.363000													4	9					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:126411587C>A	ENST00000394329.3	+	17	13623	c.13610C>A	c.(13609-13611)cCc>cAc	p.P4537H	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					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						GCCAAAAATCCCAAAGAGGAG	0.527000													6	58					0.00116845	0.00130913	0.001168	1	0
TTC40	54777	broad.mit.edu	37	10	134648863	134648863	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:134648863C>T	ENST00000368586.5	-	47	6789	c.6689G>A	c.(6688-6690)cGg>cAg	p.R2230Q	TTC40_ENST00000263170.5_Missense_Mutation_p.R391Q	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	391										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTCTGCTTCCGGAACTGCTG	0.637000													7	62					0	0	0.001984	0	0
CHD8	57680	broad.mit.edu	37	14	21871246	21871246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:21871246C>A	ENST00000399982.2	-	17	3708	c.3644G>T	c.(3643-3645)gGt>gTt	p.G1215V	CHD8_ENST00000557364.1_Missense_Mutation_p.G1215V|CHD8_ENST00000430710.3_Missense_Mutation_p.G936V|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1215	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGATTAATACCAAGTCCACC	0.478000													8	46					0.000274275	0.000320147	0.004482	1	0
ABCC4	10257	broad.mit.edu	37	13	95723952	95723952	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr13:95723952C>T	ENST00000376887.4	-	25	3288	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L	ABCC4_ENST00000412704.1_Silent_p.L1011L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1058	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGATGCTTCAGTACCAGAG	0.438000													7	78					0	0	0.001984	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306881	28306881	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr21:28306881G>T	ENST00000284987.5	-	4	1714	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	531	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCAGCTTCTTGGTCAGACAGA	0.542000													7	52					2.0095e-06	2.54993e-06	0.001984	1	0
MRPS5	64969	broad.mit.edu	37	2	95766250	95766250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:95766250C>A	ENST00000272418.2	-	10	1108	c.900G>T	c.(898-900)agG>agT	p.R300S		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGATATGCGTCCTTTTAAATC	0.333000													15	44					7.93312e-07	1.01824e-06	0.002450	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995417	140995417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:140995417C>A	ENST00000285879.4	+	4	2513	c.2227C>A	c.(2227-2229)Cct>Act	p.P743T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	743							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGAGTAT	0.557000										HNSCC(15;0.026)			48	202					8.00217e-19	1.18094e-18	0.003610	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858580	149858580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:149858580C>A	ENST00000331380.2	+	1	56	c.56C>A	c.(55-57)tCg>tAg	p.S19*		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	19					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAGTCGCGCTCGTCCCGCGCT	0.637000													7	168					1.76689e-08	2.34885e-08	0.006214	1	0
KIF21A	55605	broad.mit.edu	37	12	39763916	39763916	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:39763916G>A	ENST00000395670.3	-	2	611	c.192C>T	c.(190-192)atC>atT	p.I64I	KIF21A_ENST00000361961.3_Silent_p.I64I|KIF21A_ENST00000541463.2_Silent_p.I64I|KIF21A_ENST00000544797.2_Silent_p.I64I|KIF21A_ENST00000361418.5_Silent_p.I64I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	64	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTGAATGTAGATCTGCTCTT	0.378000													10	51					0	0	0.006214	0	0
AOC3	8639	broad.mit.edu	37	17	41004733	41004733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:41004733C>T	ENST00000308423.2	+	1	1533	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	458					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTGCGGAAACGGTGCTGGTC	0.527000													10	82					0	0	0.008291	0	0
DGKA	1606	broad.mit.edu	37	12	56333946	56333946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:56333946G>T	ENST00000331886.5	+	10	1244	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	DGKA_ENST00000394147.1_Missense_Mutation_p.D264Y|DGKA_ENST00000551156.1_Missense_Mutation_p.D264Y|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	264					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTCTCGGAAGGACATTGGTGT	0.572000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	60					2.48551e-13	3.57358e-13	0.004990	1	0
LHX9	56956	broad.mit.edu	37	1	197886998	197886998	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:197886998C>T	ENST00000367387.4	+	1	470	c.45C>T	c.(43-45)ttC>ttT	p.F15F	LHX9_ENST00000606127.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Silent_p.F15F|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367390.3_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	15					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGTGTCCTTTCCGCCCCCCAG	0.592000													6	155					0	0	0.001168	0	0
RYK	6259	broad.mit.edu	37	3	133930409	133930409	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:133930409T>C	ENST00000296084.4	-	4	390	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	130	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GGCATATCCATTGCCAAAACA	0.373000											OREG0015812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31					0	0	0.009096	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337806	42337806	+	Nonsense_Mutation	SNP	C	C	A	rs55708136		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:42337806C>A	ENST00000262418.6	-	6	606	c.451G>T	c.(451-453)Gag>Tag	p.E151*	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	151					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGCTCCTCTCGGTCCTGA	0.607000													9	19					1.12685e-05	1.39297e-05	0.004482	1	0
PPP1R12C	54776	broad.mit.edu	37	19	55607673	55607673	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:55607673G>A	ENST00000263433.3	-	7	997	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R254W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R328W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	328						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCTGGCCCCGGCTCTGGGAA	0.647000													25	95					0	0	0.005443	0	0
NFYC	4802	broad.mit.edu	37	1	41215346	41215346	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:41215346C>T	ENST00000372652.1	+	4	547	c.279C>T	c.(277-279)cgC>cgT	p.R93R	NFYC_ENST00000372651.1_Silent_p.R93R|NFYC_ENST00000456393.2_Silent_p.R93R|NFYC_ENST00000440226.3_Silent_p.R93R|NFYC_ENST00000425457.2_Silent_p.R93R|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372653.1_Silent_p.R93R|NFYC_ENST00000372654.1_Silent_p.R93R|NFYC_ENST00000308733.5_Silent_p.R93R|NFYC_ENST00000447388.3_Silent_p.R93R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	93					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ATAACAAGCGCCGGACTCTAC	0.473000													32	55					0	0	0.009535	0	0
EXD1	161829	broad.mit.edu	37	15	41482169	41482169	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:41482169C>T	ENST00000314992.5	-	9	1038	c.848G>A	c.(847-849)cGc>cAc	p.R283H	EXD1_ENST00000458580.2_Missense_Mutation_p.R341H	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGACCCTTCGCGATACGTGTT	0.542000													11	73					0	0	0.001368	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820269	35820269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:35820269C>A	ENST00000399992.1	+	3	151	c.52C>A	c.(52-54)Ccc>Acc	p.P18T	MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCATTGCCTGCCCTCCTGTCC	0.522000													11	41					3.86212e-05	4.67079e-05	0.008291	1	0
EIF4G2	1982	broad.mit.edu	37	11	10822547	10822547	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:10822547C>T	ENST00000526148.1	-	15	2011	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.A501T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.A501T|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.A463T	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	501					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGTGGTTGTGCACTAGGAGGA	0.418000													8	63					0	0	0.004482	0	0
PPARD	5467	broad.mit.edu	37	6	35388010	35388010	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:35388010C>G	ENST00000311565.4	+	5	586	c.237C>G	c.(235-237)gaC>gaG	p.D79E	PPARD_ENST00000360694.3_Missense_Mutation_p.D79E|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.D79E|PPARD_ENST00000444397.1_Missense_Mutation_p.D79E|PPARD_ENST00000448077.2_Missense_Mutation_p.D40E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	79				D -> G (in Ref. 5; BAF84350).	apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGCGGGGACAAGGCATCGG	0.652000													5	59					0	0	0.000602	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890126	156890126	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:156890126C>A	ENST00000311946.7	+	2	364	c.248C>A	c.(247-249)tCc>tAc	p.S83Y	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.S83Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	83						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTCTACTGCTCCTCCCAAGAA	0.512000													9	78					1.58986e-06	2.03284e-06	0.008291	1	0
DSCAM	1826	broad.mit.edu	37	21	41416149	41416149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr21:41416149C>A	ENST00000400454.1	-	31	5716	c.5239G>T	c.(5239-5241)Gcc>Tcc	p.A1747S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1747					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)				CACTGGCTGGCATAGCGGTTT	0.597000													10	32					3.86212e-05	4.67079e-05	0.008291	1	0
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:9190395G>A	ENST00000382496.5	-	11	1922	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		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	419	Sema.				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						CCAAATAGATGATGTGGACGA	0.498000													5	34					0	0	0.001168	0	0
NUDT1	4521	broad.mit.edu	37	7	2289541	2289541	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:2289541G>A	ENST00000397049.1	+	4	373	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	NUDT1_ENST00000397046.1_Missense_Mutation_p.G68S|NUDT1_ENST00000397048.1_Missense_Mutation_p.G91S|NUDT1_ENST00000339737.2_Missense_Mutation_p.G68S|NUDT1_ENST00000343985.4_Missense_Mutation_p.G91S|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000356714.1_Missense_Mutation_p.G68S	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	109	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCACAAGGTGGGCCAGATCGT	0.652000								Modulation of nucleotide pools					14	86					0	0	0.003163	0	0
TEX13B	56156	broad.mit.edu	37	X	107224449	107224449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:107224449C>T	ENST00000302917.1	-	3	892	c.800G>A	c.(799-801)tGt>tAt	p.C267Y		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	267										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGGAGCTGGACAGGAAGAGGC	0.537000													21	127					0	0	0.001882	0	0
CDH12	1010	broad.mit.edu	37	5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398000										HNSCC(59;0.17)			9	48					0	0	0.000978	0	0
INADL	10207	broad.mit.edu	37	1	62367102	62367102	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:62367102G>A	ENST00000371158.2	+	24	3466	c.3352G>A	c.(3352-3354)Gca>Aca	p.A1118T	INADL_ENST00000316485.6_Missense_Mutation_p.A1118T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1118	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.A1118T(1)		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						GAAGACGAACGCACTTAAAAC	0.343000													4	20					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153577355	153577355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:153577355C>A	ENST00000422373.1	-	47	8030	c.7782G>T	c.(7780-7782)gaG>gaT	p.E2594D	FLNA_ENST00000360319.4_Missense_Mutation_p.E2594D|FLNA_ENST00000369856.3_Missense_Mutation_p.E735D|FLNA_ENST00000369850.3_Missense_Mutation_p.E2602D|FLNA_ENST00000344736.4_Missense_Mutation_p.E2562D|FLNA_ENST00000498491.1_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2602	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGATCTCCTCGCAGGGGG	0.637000													9	26					0.000274275	0.000320147	0.004482	1	0
GPR112	139378	broad.mit.edu	37	X	135455108	135455108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:135455108G>T	ENST00000394143.1	+	15	7952	c.7661G>T	c.(7660-7662)gGg>gTg	p.G2554V	GPR112_ENST00000412101.1_Missense_Mutation_p.G2349V|GPR112_ENST00000287534.4_Missense_Mutation_p.G2352V|GPR112_ENST00000394141.1_Missense_Mutation_p.G2349V|GPR112_ENST00000370652.1_Missense_Mutation_p.G2554V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2554					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGTTTTCTGGGCAGATAGCA	0.488000													7	222					0.00198382	0.0022079	0.001984	1	0
SLTM	79811	broad.mit.edu	37	15	59192032	59192032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:59192032G>A	ENST00000380516.2	-	7	781	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	232	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGTCGTATGAGCTTCCATC	0.473000													11	59					0	0	0.000978	0	0
FAT3	120114	broad.mit.edu	37	11	92534900	92534900	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:92534900G>C	ENST00000298047.6	+	9	8738	c.8721G>C	c.(8719-8721)acG>acC	p.T2907T	FAT3_ENST00000409404.2_Silent_p.T2907T|FAT3_ENST00000525166.1_Silent_p.T2757T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2907	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCTCCACGGCCTTGGTCT	0.542000										TCGA Ovarian(4;0.039)			11	90					0	0	0.002450	0	0
FAM154A	158297	broad.mit.edu	37	9	18928737	18928737	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:18928737G>T	ENST00000380534.4	-	4	1017	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Silent_p.G54G	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532000													20	36					2.94398e-08	3.89816e-08	0.007413	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647422	33647422	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:33647422G>T	ENST00000558425.1	-	2	177	c.178C>A	c.(178-180)Cca>Aca	p.P60T																								CCCTTCCCTGGAGCCTGGCGG	0.547000													42	249					2.45108e-15	3.58564e-15	0.008740	1	0
DMGDH	29958	broad.mit.edu	37	5	78324334	78324334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:78324334C>T	ENST00000255189.3	-	12	1982	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	DMGDH_ENST00000380311.4_Missense_Mutation_p.D451N|DMGDH_ENST00000540686.1_Missense_Mutation_p.D272N	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	652					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)		TTGAAAACATCATCACTAAGA	0.393000													11	84					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	10					0	0	0.003080	0	0
SNRPN	6638	broad.mit.edu	37	15	25213175	25213175	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:25213175A>T	ENST00000554227.2	+	0	432				SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000346403.6_De_novo_Start_OutOfFrame|SNURF_ENST00000338094.6_Missense_Mutation_p.R69S|SNRPN_ENST00000577565.1_De_novo_Start_OutOfFrame|SNURF_ENST00000577949.1_Missense_Mutation_p.R69S|SNRPN_ENST00000400097.1_De_novo_Start_InFrame|SNRPN_ENST00000400098.1_De_novo_Start_InFrame|SNRPN_ENST00000400100.1_De_novo_Start_InFrame|SNURF_ENST00000338327.4_Missense_Mutation_p.R69S|SNRPN_ENST00000390687.4_De_novo_Start_InFrame			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGACACCAAGAGGTGGTTAAA	0.458000									Prader-Willi syndrome				6	36					0	0	0.001168	0	0
DSC3	1825	broad.mit.edu	37	18	28588469	28588469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr18:28588469C>A	ENST00000434452.1	-	10	1440	c.1286G>T	c.(1285-1287)cGt>cTt	p.R429L	DSC3_ENST00000360428.4_Missense_Mutation_p.R429L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	429	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTCACTTGACGGTTTTCTTC	0.388000													3	32					0.004672	0.00513154	0.004672	1	0
MTCH2	23788	broad.mit.edu	37	11	47653245	47653245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:47653245C>A	ENST00000302503.3	-	6	545	c.388G>T	c.(388-390)Gct>Tct	p.A130S	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCAGAACGAGCGATCATCTCT	0.428000													11	51					6.40141e-05	7.71393e-05	0.000978	1	0
RALYL	138046	broad.mit.edu	37	8	85441676	85441676	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:85441676C>A	ENST00000521268.1	+	2	1225	c.120C>A	c.(118-120)gcC>gcA	p.A40A	RALYL_ENST00000518566.1_Silent_p.A40A|RALYL_ENST00000517638.1_Silent_p.A53A|RALYL_ENST00000522455.1_Silent_p.A40A|RALYL_ENST00000521695.1_Silent_p.A40A	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	40	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACATTGAAGCCATTTTTTCAA	0.423000													18	24					6.49762e-13	9.26256e-13	0.006122	1	0
RBM15	64783	broad.mit.edu	37	1	110882411	110882411	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:110882411C>T	ENST00000369784.3	+	1	1284	c.384C>T	c.(382-384)tcC>tcT	p.S128S	RBM15_ENST00000602849.1_Silent_p.S128S|RBM15_ENST00000487146.2_Silent_p.S128S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	128	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTATAGCTCCCCGAGCACCA	0.657000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	0.004672	0	0
ETNK1	55500	broad.mit.edu	37	12	22813997	22813997	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:22813997G>T	ENST00000266517.4	+	4	914	c.824_splice	c.e4-1	p.R275_splice		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	275					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAACTAAAAGGTTCCTAAGTG	0.353000													13	20					2.27111e-07	2.94892e-07	0.001368	1	0
IGLV2-11	28816	broad.mit.edu	37	22	23135222	23135222	+	RNA	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr22:23135222A>C	ENST00000390314.2	+	0	126																											AGCCTCGCTCAGTGTCCGGGT	0.567000													6	247					0	0	0.008291	0	0
NR1I3	9970	broad.mit.edu	37	1	161202597	161202597	+	Splice_Site	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:161202597C>T	ENST00000367983.4	-	5	842	c.548_splice	c.e5+1	p.R183_splice	NR1I3_ENST00000515621.1_Splice_Site_p.R108_splice|NR1I3_ENST00000367982.4_Splice_Site_p.R183_splice|NR1I3_ENST00000515452.1_Splice_Site_p.R183_splice|NR1I3_ENST00000367985.3_Splice_Site_p.R183_splice|NR1I3_ENST00000512372.1_Splice_Site_p.R154_splice|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Splice_Site_p.R154_splice|NR1I3_ENST00000442691.2_Splice_Site_p.R183_splice|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Splice_Site_p.R154_splice|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367980.2_Splice_Site_p.R183_splice|NR1I3_ENST00000506209.1_Splice_Site_p.R154_splice|NR1I3_ENST00000505005.1_Splice_Site_p.R183_splice|NR1I3_ENST00000504010.1_Splice_Site_p.R154_splice|NR1I3_ENST00000412844.2_Splice_Site_p.R154_splice|NR1I3_ENST00000367981.3_Splice_Site_p.R154_splice|NR1I3_ENST00000428574.2_Splice_Site_p.R183_splice|NR1I3_ENST00000367979.2_Splice_Site_p.R183_splice|NR1I3_ENST00000437437.2_Splice_Site_p.R154_splice|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367984.4_Splice_Site_p.R183_splice			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	183					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCACTCACCGGAAGACGGG	0.493000													11	121					0	0	0.008291	0	0
PRKDC	5591	broad.mit.edu	37	8	48790322	48790322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:48790322C>T	ENST00000314191.2	-	41	5379	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E1775K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1776					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAATAATTCTTCCATGACA	0.403000								Non-homologous end-joining					7	91					0	0	0.001984	0	0
NTRK1	4914	broad.mit.edu	37	1	156834552	156834552	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:156834552C>T	ENST00000368196.3	+	3	440	c.320C>T	c.(319-321)gCg>gTg	p.A107V	NTRK1_ENST00000392302.2_Missense_Mutation_p.A77V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A107V|NTRK1_ENST00000524377.1_Missense_Mutation_p.A107V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	107			A -> V (in an ovarian serous carcinoma sample; somatic mutation).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A107V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGTTTCGTGGCGCCAGATGCC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			5	67					0	0	0.000602	0	0
TIMP4	7079	broad.mit.edu	37	3	12195027	12195027	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:12195027G>A	ENST00000287814.4	-	5	1173	c.663C>T	c.(661-663)atC>atT	p.I221I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	221							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGCTGAACGATGTCAACAA	0.532000													10	82					0	0	0.006214	0	0
GALNT5	11227	broad.mit.edu	37	2	158115947	158115947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:158115947G>T	ENST00000259056.4	+	1	1838	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	451					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCATGGAAAGGAGAAGGAGG	0.498000													7	72					1.06961e-07	1.41071e-07	0.003080	1	0
ASPM	259266	broad.mit.edu	37	1	197112506	197112506	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:197112506C>T	ENST00000367409.4	-	3	1132	c.876G>A	c.(874-876)gaG>gaA	p.E292E	ASPM_ENST00000294732.7_Silent_p.E292E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	292					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTACTATTCTCTCCTCTTT	0.328000													4	86					0	0	0.009096	0	0
TNRC6A	27327	broad.mit.edu	37	16	24762097	24762097	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:24762097A>C	ENST00000395799.3	+	3	233	c.104A>C	c.(103-105)aAa>aCa	p.K35T	TNRC6A_ENST00000562829.1_Intron|TNRC6A_ENST00000315183.7_Missense_Mutation_p.K35T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	35					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		aaaaagaaaaaagacgacaag	0.294000													3	21					0	0	0.004672	0	0
NODAL	4838	broad.mit.edu	37	10	72195563	72195563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:72195563C>T	ENST00000287139.3	-	2	369	c.370G>A	c.(370-372)Gct>Act	p.A124T	AC022532.1_ENST00000420338.2_3'UTR	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	124					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTGTCTGAAGCCTGCTCTGTG	0.567000													16	49					0	0	0.004990	0	0
NAV3	89795	broad.mit.edu	37	12	78515721	78515721	+	Splice_Site	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:78515721T>A	ENST00000397909.2	+	16	3924	c.3749_splice	c.e16-1	p.L1251_splice	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Splice_Site_p.L1251_splice|NAV3_ENST00000228327.6_Splice_Site_p.L1251_splice			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1251	Ser-rich.					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						TTCTTTTAGGTTGTTTGGTGC	0.433000										HNSCC(70;0.22)			3	21					0	0	0.004672	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557000													3	40					0	0	0.004672	0	0
ATG9B	285973	broad.mit.edu	37	7	150721177	150721177	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:150721177G>C	ENST00000605938.1	-	1	409	c.334C>G	c.(334-336)Ccc>Gcc	p.P112A	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.P112A|ATG9B_ENST00000605952.1_Missense_Mutation_p.P112A|ATG9B_ENST00000444312.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	112	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCAGGAGGGAGATGCAGAG	0.657000													3	19					0	0	0.004672	0	0
KRT80	144501	broad.mit.edu	37	12	52567495	52567495	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:52567495C>T	ENST00000313234.5	-	5	817	c.720G>A	c.(718-720)atG>atA	p.M240I	KRT80_ENST00000394815.2_Missense_Mutation_p.M240I	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	240	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AGCGGCTGTCCATGCCGACGG	0.662000													7	52					0	0	0.001984	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664453	44664453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:44664453C>T	ENST00000454036.1	+	4	462	c.386C>T	c.(385-387)cCg>cTg	p.P129L	SLC12A5_ENST00000539566.1_Missense_Mutation_p.P106L|SLC12A5_ENST00000372315.1_Missense_Mutation_p.P106L|SLC12A5_ENST00000243964.3_Missense_Mutation_p.P106L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	129					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)	GTGTACCTGCCGTGCCTGCAG	0.597000													4	28					0	0	0.000602	0	0
DISC1	27185	broad.mit.edu	37	1	231829772	231829772	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:231829772T>A	ENST00000439617.2	+	2	321	c.268T>A	c.(268-270)Tcg>Acg	p.S90T	DISC1_ENST00000537876.1_Missense_Mutation_p.S90T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.S90T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S90T|DISC1_ENST00000539444.1_Missense_Mutation_p.S90T|DISC1_ENST00000366633.3_Missense_Mutation_p.S90T|DISC1_ENST00000317586.4_Missense_Mutation_p.S90T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.S90T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	90	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGGCCTTGACTCGAGAGGCCT	0.622000													7	33					0	0	0.003080	0	0
NALCN	259232	broad.mit.edu	37	13	101759838	101759838	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr13:101759838G>T	ENST00000251127.6	-	22	2660	c.2579_splice	c.e22+1	p.A860_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					GTGTACTTACGCGTTGAAGCG	0.502000													10	57					7.48243e-07	9.64082e-07	0.006214	1	0
BRCC3	79184	broad.mit.edu	37	X	154348404	154348404	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:154348404A>G	ENST00000369462.1	+	11	955	c.930A>G	c.(928-930)caA>caG	p.Q310Q	BRCC3_ENST00000369459.2_Silent_p.Q241Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Silent_p.Q285Q|BRCC3_ENST00000399042.1_Silent_p.Q311Q|BRCC3_ENST00000340647.4_Silent_p.Q286Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	310					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTTATGCAAGAACTTTCTT	0.418000													11	49					0	0	0.001855	0	0
PCDH15	65217	broad.mit.edu	37	10	55582280	55582280	+	Missense_Mutation	SNP	G	G	T	rs145712392		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:55582280G>T	ENST00000361849.3	-	34	5606	c.5212C>A	c.(5212-5214)Cat>Aat	p.H1738N	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.H1733N|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.H1736N|PCDH15_ENST00000395432.2_Missense_Mutation_p.H1696N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.H1667N|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.H1713N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1736					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGATGGGCAAAATTT	0.463000										HNSCC(58;0.16)			5	11					0.000602214	0.000686197	0.000602	1	0
ANO9	338440	broad.mit.edu	37	11	433926	433926	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:433926G>A	ENST00000332826.6	-	3	177	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	31						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCCACTGCTCGGAGGCCTCGG	0.701000													4	6					0	0	0.009096	0	0
CHL1	10752	broad.mit.edu	37	3	396330	396330	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:396330T>C	ENST00000256509.2	+	11	1683	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	CHL1_ENST00000397491.2_Silent_p.P331P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	331	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGCCTCCTCGCTGGACAA	0.453000													18	103					0	0	0.006122	0	0
OR13C8	138802	broad.mit.edu	37	9	107331812	107331812	+	Missense_Mutation	SNP	C	C	T	rs79042036		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:107331812C>T	ENST00000335040.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGCACTGGACCGCTATGTGGC	0.527000													16	62					0	0	0.004007	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446343	4446343	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:4446343G>A	ENST00000254718.4	-	20	3063	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	MYBBP1A_ENST00000381556.2_Silent_p.T919T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	919					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTAGAGGGCGGTGGGGGAGT	0.667000													13	95					0	0	0.004007	0	0
SMG6	23293	broad.mit.edu	37	17	2202976	2202976	+	Silent	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:2202976T>C	ENST00000544865.1	-	2	1488	c.978A>G	c.(976-978)gaA>gaG	p.E326E	SMG6_ENST00000263073.5_Silent_p.E357E			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	357	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTTCATGGCTTCTGCATCGA	0.498000													16	60					0	0	0.003163	0	0
NDUFA1	4694	broad.mit.edu	37	X	119007299	119007299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:119007299G>C	ENST00000371437.4	+	2	560	c.135G>C	c.(133-135)tgG>tgC	p.W45C		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	45					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	GGTATCACTGGAGTCTGATGG	0.408000													10	52					0	0	0.001368	0	0
MADD	8567	broad.mit.edu	37	11	47306564	47306564	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:47306564C>T	ENST00000342922.4	+	13	2587	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	MADD_ENST00000402799.1_Missense_Mutation_p.P744S|MADD_ENST00000395336.3_Missense_Mutation_p.P744S|MADD_ENST00000395344.3_Missense_Mutation_p.P744S|MADD_ENST00000311027.5_Missense_Mutation_p.P744S|MADD_ENST00000407859.3_Missense_Mutation_p.P744S|MADD_ENST00000406482.1_Missense_Mutation_p.P744S|MADD_ENST00000349238.3_Missense_Mutation_p.P744S|MADD_ENST00000402192.2_Missense_Mutation_p.P744S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	744					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCGTGCCTCCCAGCATTGG	0.532000													14	63					0	0	0.001855	0	0
SIX2	10736	broad.mit.edu	37	2	45235795	45235795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:45235795C>A	ENST00000303077.6	-	1	774	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	152						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)				ACGCTTCTCGCGGGGTGAAGG	0.667000													18	82					9.16793e-09	1.2285e-08	0.004990	1	0
DDI1	414301	broad.mit.edu	37	11	103908471	103908471	+	Silent	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:103908471T>A	ENST00000302259.3	+	1	1164	c.921T>A	c.(919-921)atT>atA	p.I307I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	307					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TAGCTCAGATTCAAATTGAAG	0.473000													8	41					0	0	0.004482	0	0
NFKB2	4791	broad.mit.edu	37	10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:104161068G>A	ENST00000369966.3	+	19	2453	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N|NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	735			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CACGCCTCTTGACCTCACTTG	0.597000			T	IGH@	B-NHL								10	59					0	0	0.008291	0	0
KIF19	124602	broad.mit.edu	37	17	72350347	72350347	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:72350347C>A	ENST00000389916.4	+	18	2493	c.2355C>A	c.(2353-2355)gcC>gcA	p.A785A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	785					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						GGGTGAAGGCCGCCCGGCGGC	0.672000													10	88					0.000673444	0.000764758	0.008291	1	0
INSRR	3645	broad.mit.edu	37	1	156821927	156821927	+	Missense_Mutation	SNP	C	C	T	rs140347940		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:156821927C>T	ENST00000368195.3	-	3	1090	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	232					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGGCATTCGGTGTGGCAG	0.672000													8	54					0	0	0.003080	0	0
ERH	2079	broad.mit.edu	37	14	69847288	69847288	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:69847288G>A	ENST00000557016.1	-	4	675	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)	94					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GCCGACGAAGGAGCACGTAGA	0.507000													17	59					0	0	0.007413	0	0
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672000													11	58					0	0	0.000978	0	0
INF2	64423	broad.mit.edu	37	14	105169539	105169539	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:105169539C>T	ENST00000392634.4	+	3	601	c.489C>T	c.(487-489)gaC>gaT	p.D163D	INF2_ENST00000398337.4_Silent_p.D163D|INF2_ENST00000330634.7_Silent_p.D163D	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	163	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGACCCTGGACGCCCTGGACC	0.662000													8	53					0	0	0.003080	0	0
KCTD18	130535	broad.mit.edu	37	2	201355337	201355337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:201355337C>T	ENST00000359878.3	-	7	1277	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	KCTD18_ENST00000409157.1_Missense_Mutation_p.R256Q	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CGTTATCAGTCGCCTAGAAAT	0.393000													4	51					0	0	0.009096	0	0
IRF7	3665	broad.mit.edu	37	11	612770	612770	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:612770C>G	ENST00000397566.1	-	9	1835	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	IRF7_ENST00000330243.5_Missense_Mutation_p.E476Q|IRF7_ENST00000525445.1_Missense_Mutation_p.E357Q|IRF7_ENST00000397570.1_Missense_Mutation_p.E434Q|IRF7_ENST00000397562.3_Missense_Mutation_p.E170Q|IRF7_ENST00000348655.6_Missense_Mutation_p.E434Q|IRF7_ENST00000397574.2_Missense_Mutation_p.E463Q	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	463					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGTGCCCTCTAGGTGCACT	0.647000													3	40					0	0	0.004672	0	0
PCDH10	57575	broad.mit.edu	37	4	134071517	134071517	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:134071517C>T	ENST00000264360.4	+	1	1048	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	74	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y74*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTGCTGTACGTGAACGAGA	0.547000													6	92					0	0	0.001984	0	0
F9	2158	broad.mit.edu	37	X	138643931	138643931	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:138643931G>C	ENST00000218099.2	+	8	1094	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	F9_ENST00000394090.2_Missense_Mutation_p.G325R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	363	Peptidase S1.		G -> W (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CTTCCACAAAGGGAGATCAGC	0.428000													5	96					0	0	0.000602	0	0
ZNF507	22847	broad.mit.edu	37	19	32845809	32845809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:32845809C>G	ENST00000311921.3	+	2	2265	c.2073C>G	c.(2071-2073)caC>caG	p.H691Q	ZNF507_ENST00000544431.1_Missense_Mutation_p.H691Q|ZNF507_ENST00000355898.5_Missense_Mutation_p.H691Q|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGATCCACCACTGTAAGACAA	0.453000													6	28					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228495874	228495874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:228495874G>T	ENST00000570156.2	+	58	15474	c.15400G>T	c.(15400-15402)Gag>Tag	p.E5134*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E4177*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E1296*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E4177*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E1811*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4177	Ig-like 49.				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)				TGAGGATGTTGAGTTCAGCTG	0.612000													33	45					9.17885e-22	1.36058e-21	0.003271	1	0
STXBP1	6812	broad.mit.edu	37	9	130430376	130430376	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:130430376T>C	ENST00000373302.3	+	10	951	c.812T>C	c.(811-813)aTc>aCc	p.I271T	STXBP1_ENST00000373299.1_Missense_Mutation_p.I271T	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	271					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ACCAGCGGCATCGGGGAGGCA	0.587000													11	34					0	0	0.001368	0	0
KCNA6	3742	broad.mit.edu	37	12	4919377	4919377	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:4919377G>A	ENST00000433855.1	+	1	1036	c.170G>A	c.(169-171)cGc>cAc	p.R57H	KCNA6_ENST00000280684.3_Missense_Mutation_p.R57H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	57						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACACAATTGCGCACCCTGTCG	0.652000										HNSCC(72;0.22)			5	27					0	0	0.000602	0	0
CLCA4	22802	broad.mit.edu	37	1	87041018	87041018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:87041018G>T	ENST00000370563.3	+	11	1729	c.1687G>T	c.(1687-1689)Ggc>Tgc	p.G563C	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	563						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.G563F(1)|p.G563C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTTTAGGTGGGCACTTGGGC	0.353000													7	30					1.26484e-09	1.72245e-09	0.003080	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													3	30					0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56470280	56470280	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:56470280G>A	ENST00000370754.5	-	39	9046	c.9047C>T	c.(9046-9048)tCa>tTa	p.S3016L	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2512L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S2838L|DST_ENST00000370769.4_Missense_Mutation_p.S2838L|DST_ENST00000312431.6_Missense_Mutation_p.S2838L			Q03001	DYST_HUMAN	dystonin	2838					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)			TTTCTGAATTGATGTTTCATC	0.373000													15	153					0	0	0.002450	0	0
SRRT	51593	broad.mit.edu	37	7	100483532	100483532	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:100483532A>G	ENST00000388793.4	+	12	1645	c.1425A>G	c.(1423-1425)aaA>aaG	p.K475K	SRRT_ENST00000432932.1_Silent_p.K475K|SRRT_ENST00000457580.2_Silent_p.K476K|SRRT_ENST00000347433.4_Silent_p.K476K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	476					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TTAACATTAAAGAGATCTGTT	0.527000													13	105					0	0	0.001855	0	0
PTGDR	5729	broad.mit.edu	37	14	52734683	52734683	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:52734683C>T	ENST00000306051.2	+	1	253	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	PTGDR_ENST00000553372.1_Missense_Mutation_p.R51W	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	51						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGGTGCTCGCGGCGTCCACT	0.701000													7	26					0	0	0.001984	0	0
ZEB1	6935	broad.mit.edu	37	10	31815845	31815845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:31815845C>A	ENST00000446923.2	+	9	3371	c.2980C>A	c.(2980-2982)Cac>Aac	p.H994N	ZEB1_ENST00000361642.5_Missense_Mutation_p.H1011N|ZEB1_ENST00000560721.2_Missense_Mutation_p.H990N|ZEB1_ENST00000320985.10_Missense_Mutation_p.H1010N|ZEB1_ENST00000542815.3_Missense_Mutation_p.H943N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1010	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCGAATGAGCACGTGGGTGC	0.532000													10	28					0.000442599	0.000513048	0.006214	1	0
CDKL4	344387	broad.mit.edu	37	2	39431698	39431698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:39431698T>A	ENST00000378803.1	-	4	423	c.424A>T	c.(424-426)Att>Ttt	p.I142F	CDKL4_ENST00000395035.3_Missense_Mutation_p.I142F	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	142	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AAGTCACAAATCTTGATTATT	0.279000													3	29					0	0	0.009096	0	0
LRFN5	145581	broad.mit.edu	37	14	42356775	42356775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:42356775C>A	ENST00000554171.1	+	5	3379	c.947C>A	c.(946-948)cCt>cAt	p.P316H	LRFN5_ENST00000554120.1_Missense_Mutation_p.P316H|LRFN5_ENST00000298119.4_Missense_Mutation_p.P316H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	316	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACCCTGAGCCTGCAATTCAC	0.463000										HNSCC(30;0.082)			19	25					8.00594e-06	9.97022e-06	0.007413	1	0
KIAA0753	9851	broad.mit.edu	37	17	6531765	6531765	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:6531765C>T	ENST00000361413.3	-	3	748	c.390G>A	c.(388-390)caG>caA	p.Q130Q	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	130						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GTCCACACTTCTGAGAGCTTT	0.433000													4	41					0	0	0.000602	0	0
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:3701483G>T	ENST00000382622.3	+	9	1456	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.G347W	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	356					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557000													24	48					2.70639e-06	3.40843e-06	0.002299	1	0
DST	667	broad.mit.edu	37	6	56469665	56469665	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:56469665G>C	ENST00000370754.5	-	39	9661	c.9662C>G	c.(9661-9663)tCa>tGa	p.S3221*	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.S2717*|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Nonsense_Mutation_p.S3043*|DST_ENST00000370769.4_Nonsense_Mutation_p.S3043*|DST_ENST00000312431.6_Nonsense_Mutation_p.S3043*			Q03001	DYST_HUMAN	dystonin	3043					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)			TCCTCCTCCTGAGATGCTTTC	0.358000													7	48					0	0	0.001984	0	0
FMO1	2326	broad.mit.edu	37	1	171254448	171254448	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:171254448C>T	ENST00000354841.4	+	8	1495	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	FMO1_ENST00000367750.3_Missense_Mutation_p.T455M|FMO1_ENST00000402921.2_Missense_Mutation_p.T392M|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	455					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCTCCTAACGGATCCACAT	0.468000													9	88					0	0	0.004482	0	0
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								7	41					8.12818e-05	9.69018e-05	0.001984	1	0
CLEC16A	23274	broad.mit.edu	37	16	11038605	11038605	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:11038605G>A	ENST00000409790.1	+	1	261	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	CLEC16A_ENST00000409552.3_Missense_Mutation_p.G11R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	11										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGGGTGGGCGGGGGCCATGG	0.711000													3	12					0	0	0.004672	0	0
ZNF883	169834	broad.mit.edu	37	9	115760036	115760036	+	RNA	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:115760036T>C	ENST00000427548.1	-	0	1777							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GATGTTCAATTAGGTGTGTGC	0.403000													4	42					0	0	0.009096	0	0
LRP4	4038	broad.mit.edu	37	11	46911554	46911554	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:46911554C>T	ENST00000378623.1	-	15	2275	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	678					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)		GAGTTTGTTGCGAATGATTTC	0.517000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	82					0	0	0.001855	0	0
IL17A	3605	broad.mit.edu	37	6	52052547	52052547	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:52052547C>T	ENST00000340057.1	+	2	219	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	58					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATACCAATACCAATCCCAAAA	0.453000													17	141					0	0	0.004007	0	0
ADCY5	111	broad.mit.edu	37	3	123071356	123071356	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:123071356A>T	ENST00000462833.1	-	2	2419	c.1207T>A	c.(1207-1209)Tcc>Acc	p.S403T	ADCY5_ENST00000309879.5_Missense_Mutation_p.S53T|ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Missense_Mutation_p.S36T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	403					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGTCTCTGGGAGACCTCAGCC	0.607000													12	43					0	0	0.001855	0	0
ZNF677	342926	broad.mit.edu	37	19	53741564	53741564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:53741564G>C	ENST00000333952.4	-	5	581	c.416C>G	c.(415-417)tCc>tGc	p.S139C	ZNF677_ENST00000598513.1_Missense_Mutation_p.S139C			Q86XU0	ZN677_HUMAN	zinc finger protein 677	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATGTATTGAGGATTTATTATG	0.333000													12	32					0	0	0.000978	0	0
DCN	1634	broad.mit.edu	37	12	91572199	91572199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:91572199C>T	ENST00000551354.1	-	2	335	c.131G>A	c.(130-132)cGc>cAc	p.R44H	DCN_ENST00000425043.1_Missense_Mutation_p.R44H|DCN_ENST00000456569.2_Missense_Mutation_p.R44H|DCN_ENST00000228329.5_Missense_Mutation_p.R44H|DCN_ENST00000441303.2_Missense_Mutation_p.R44H|DCN_ENST00000420120.2_Missense_Mutation_p.R44H|DCN_ENST00000393155.1_Missense_Mutation_p.R44H|DCN_ENST00000546745.1_Missense_Mutation_p.R44H|DCN_ENST00000303320.3_Missense_Mutation_p.R44H|DCN_ENST00000552962.1_Missense_Mutation_p.R44H|DCN_ENST00000547568.2_Missense_Mutation_p.R44H|DCN_ENST00000052754.5_Missense_Mutation_p.R44H|DCN_ENST00000546370.1_Missense_Mutation_p.R44H|DCN_ENST00000550099.1_Missense_Mutation_p.R44H			P07585	PGS2_HUMAN	decorin	44					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCGAAGTCGCGGTCATCAGG	0.532000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	89					0	0	0.004990	0	0
FKBP14	55033	broad.mit.edu	37	7	30058645	30058645	+	Silent	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:30058645A>G	ENST00000222803.5	-	3	619	c.444T>C	c.(442-444)gaT>gaC	p.D148D	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	148	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCATTAAGATCCATTTCTT	0.378000													8	53					0	0	0.004482	0	0
NONO	4841	broad.mit.edu	37	X	70511691	70511691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:70511691C>T	ENST00000276079.8	+	4	422	c.217C>T	c.(217-219)Cga>Tga	p.R73*	NONO_ENST00000373856.3_Nonsense_Mutation_p.R73*|NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Nonsense_Mutation_p.R73*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	73	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTTCACCCAACGAAGCCGTCT	0.428000			T	TFE3	papillary renal cancer								4	31					0	0	0.009096	0	0
NPM1	4869	broad.mit.edu	37	5	170834751	170834751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:170834751G>C	ENST00000296930.5	+	10	1120	c.819G>C	c.(817-819)aaG>aaC	p.K273N	NPM1_ENST00000517671.1_Missense_Mutation_p.K273N|NPM1_ENST00000351986.6_Missense_Mutation_p.K244N	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	273	Required for nucleolar localization.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTATGTGAAGAATTGCTTCC	0.373000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								8	34					0	0	0.004482	0	0
TRPS1	7227	broad.mit.edu	37	8	116631652	116631652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:116631652G>T	ENST00000395715.3	-	3	1250	c.673C>A	c.(673-675)Ccg>Acg	p.P225T	TRPS1_ENST00000519076.1_Missense_Mutation_p.P166T|TRPS1_ENST00000520276.1_Missense_Mutation_p.P216T|TRPS1_ENST00000220888.5_Missense_Mutation_p.P212T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P212T	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	212					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGAGGTGCCGGGTCTGGGTTG	0.468000									Langer-Giedion syndrome				18	130					6.94344e-10	9.61179e-10	0.006122	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255829	140255829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:140255829G>A	ENST00000398631.2	+	1	772	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCAAAACGACACAAGAGT	0.418000													12	71					0	0	0.000978	0	0
EMR3	84658	broad.mit.edu	37	19	14736360	14736360	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:14736360C>G	ENST00000253673.5	-	15	1964	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	EMR3_ENST00000443157.2_Missense_Mutation_p.E496Q|EMR3_ENST00000344373.4_Missense_Mutation_p.E570Q|EMR3_ENST00000599900.1_Missense_Mutation_p.E407Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	622					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTCTCAGACTCAGATTTTGAT	0.388000													10	71					0	0	0.000978	0	0
ETNK1	55500	broad.mit.edu	37	12	22813996	22813996	+	Splice_Site	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:22813996G>T	ENST00000266517.4	+	4	913		c.e4-1			NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1						phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAACTAAAAGGTTCCTAAGT	0.353000													13	19					2.27111e-07	2.94892e-07	0.001368	1	0
AURKB	9212	broad.mit.edu	37	17	8109862	8109862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:8109862C>A	ENST00000316199.6	-	7	713	c.636G>T	c.(634-636)aaG>aaT	p.K212N	AURKB_ENST00000585124.1_Missense_Mutation_p.K211N|AURKB_ENST00000534871.1_Missense_Mutation_p.K170N|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000578549.1_Missense_Mutation_p.K179N			Q96GD4	AURKB_HUMAN	aurora kinase B	211	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TCAGCTCTCCCTTGAGCCCTA	0.547000													11	31					1.08611e-07	1.42127e-07	0.000978	1	0
STAG2	10735	broad.mit.edu	37	X	123179212	123179212	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:123179212C>A	ENST00000371160.1	+	8	951	c.661C>A	c.(661-663)Ctg>Atg	p.L221M	STAG2_ENST00000371144.3_Missense_Mutation_p.L221M|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.L221M|STAG2_ENST00000218089.9_Missense_Mutation_p.L221M|STAG2_ENST00000354548.5_Missense_Mutation_p.L152M|STAG2_ENST00000371145.3_Missense_Mutation_p.L221M			Q8N3U4	STAG2_HUMAN	stromal antigen 2	221					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TACAAGCACCCTGGCAGGTCG	0.328000													20	99					1.96292e-10	2.75138e-10	0.010504	1	0
HCN1	348980	broad.mit.edu	37	5	45262359	45262359	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:45262359C>A	ENST00000303230.4	-	8	2394	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	779						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCCCGGGTCAGGTTGGTGT	0.632000													7	39					0.00307968	0.00340493	0.003080	1	0
WNT9B	7484	broad.mit.edu	37	17	44952530	44952530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:44952530G>A	ENST00000393461.2	+	3	451	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	WNT9B_ENST00000290015.2_Missense_Mutation_p.R133Q			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	133					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACCCTGGCCCGGGCCTGCAGC	0.677000													8	199					0	0	0.003080	0	0
ESRRG	2104	broad.mit.edu	37	1	216850650	216850650	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:216850650G>A	ENST00000391890.3	-	4	688	c.171C>T	c.(169-171)gaC>gaT	p.D57D	ESRRG_ENST00000360012.3_Silent_p.D57D|ESRRG_ENST00000361525.3_Silent_p.D57D|ESRRG_ENST00000366940.2_Silent_p.D57D|ESRRG_ENST00000359162.2_Silent_p.D57D|ESRRG_ENST00000487276.1_Silent_p.D57D|ESRRG_ENST00000463665.1_Silent_p.D57D|ESRRG_ENST00000361395.2_Silent_p.D57D|ESRRG_ENST00000366937.1_Silent_p.D85D|ESRRG_ENST00000493748.1_Silent_p.D57D|ESRRG_ENST00000408911.3_Silent_p.D80D|ESRRG_ENST00000366938.2_Silent_p.D57D|ESRRG_ENST00000493603.1_Silent_p.D57D	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	80					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGGTGGCGAGTCAAGTCCGT	0.562000													22	83					0	0	0.010504	0	0
FAM188B	84182	broad.mit.edu	37	7	30915236	30915236	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:30915236T>G	ENST00000265299.6	+	15	2013	c.1936T>G	c.(1936-1938)Ttc>Gtc	p.F646V	AQP1_ENST00000509504.1_Missense_Mutation_p.F109V|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	646										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATATTGGCTTCTTATCTCT	0.498000													22	105					0	0	0.002780	0	0
DNAI2	64446	broad.mit.edu	37	17	72301535	72301535	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:72301535C>T	ENST00000579490.1	+	8	1471	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	DNAI2_ENST00000582036.1_Missense_Mutation_p.R389C|DNAI2_ENST00000446837.2_Missense_Mutation_p.R389C|DNAI2_ENST00000311014.6_Missense_Mutation_p.R389C|DNAI2_ENST00000307504.5_Missense_Mutation_p.R246C			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	389					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGACAGCCCGCATTTGGTC	0.592000									Kartagener syndrome				16	30					0	0	0.003163	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710151	112710151	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:112710151T>C	ENST00000383677.3	+	1	320	c.305T>C	c.(304-306)aTc>aCc	p.I102T	GTPBP8_ENST00000383678.2_Missense_Mutation_p.I102T	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	102					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCCGTCCGTATCGACCACGCC	0.652000													6	28					0	0	0.001168	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819231	200819231	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:200819231C>G	ENST00000358823.2	+	11	3604	c.3334C>G	c.(3334-3336)Ctg>Gtg	p.L1112V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1096V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1123V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1123						cytoplasm|microtubule	protein binding										AAATGTTAATCTGATTGAAGT	0.408000													8	142					0	0	0.006214	0	0
LOC645166	645166	broad.mit.edu	37	1	148932845	148932845	+	RNA	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:148932845T>A	ENST00000539543.1	+	0	101					NR_027355.1																						CCAGCATGGCTGCATCCAGTA	0.607000													14	228					0	0	0.001855	0	0
ANPEP	290	broad.mit.edu	37	15	90328672	90328672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:90328672C>A	ENST00000300060.6	-	21	3125	c.2812G>T	c.(2812-2814)Gag>Tag	p.E938*		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	938	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGGCTTGCTCCAGGGCCCGG	0.552000													21	91					5.26018e-13	7.5306e-13	0.001882	1	0
CDH22	64405	broad.mit.edu	37	20	44806630	44806630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:44806630G>A	ENST00000372262.3	-	10	2270	c.1870C>T	c.(1870-1872)Ccc>Tcc	p.P624S	CDH22_ENST00000537909.1_Missense_Mutation_p.P624S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGGGCGCCGGGGCTGAGGGAG	0.652000													8	26					0	0	0.003080	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925172	105925172	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:105925172C>T	ENST00000526793.1	-	3	403	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	KBTBD3_ENST00000531837.1_Missense_Mutation_p.E82K|KBTBD3_ENST00000534815.1_Missense_Mutation_p.E3K	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	78	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTTACTTCAAACATAGCC	0.318000													4	13					0	0	0.009096	0	0
ZNF254	9534	broad.mit.edu	37	19	24309344	24309344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:24309344C>T	ENST00000357002.4	+	4	657	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ZNF254_ENST00000342944.6_Missense_Mutation_p.S96F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	181					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAAAAGAAATCTTTCAAATGT	0.284000													9	71					0	0	0.006214	0	0
RS1	6247	broad.mit.edu	37	X	18665334	18665334	+	Silent	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:18665334G>T	ENST00000379984.3	-	4	343	c.303C>A	c.(301-303)gcC>gcA	p.A101A	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	101	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTTGAGCCGGGCCTTGTTTG	0.527000													15	56					2.62699e-14	3.82626e-14	0.003163	1	0
PXDN	7837	broad.mit.edu	37	2	1642712	1642712	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:1642712G>A	ENST00000252804.4	-	21	4162	c.4112C>T	c.(4111-4113)tCa>tTa	p.S1371L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1371					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGAAGGCTGAGGTGCTGTT	0.527000													5	68					0	0	0.000602	0	0
PLCB1	23236	broad.mit.edu	37	20	8717773	8717773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:8717773G>T	ENST00000378641.3	+	20	2617	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	PLCB1_ENST00000378637.2_Missense_Mutation_p.K714N|PLCB1_ENST00000338037.6_Missense_Mutation_p.K714N|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	714	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGCATTTAAGACCAAAACAT	0.388000													11	38					0.000978159	0.00109961	0.000978	1	0
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:32957127C>G	ENST00000321639.5	+	6	1497	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	390						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGGACATCTCCGCCCTAGTG	0.572000													4	29					0	0	0.009096	0	0
EMR2	30817	broad.mit.edu	37	19	14866474	14866474	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:14866474A>G	ENST00000315576.3	-	13	1859	c.1408T>C	c.(1408-1410)Tcc>Ccc	p.S470P	EMR2_ENST00000353005.1_Missense_Mutation_p.S328P|EMR2_ENST00000353876.1_Missense_Mutation_p.S377P|EMR2_ENST00000346057.1_Missense_Mutation_p.S421P|EMR2_ENST00000601345.1_Missense_Mutation_p.S459P|EMR2_ENST00000596991.2_Missense_Mutation_p.S459P|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000594076.1_Missense_Mutation_p.S377P|EMR2_ENST00000392967.2_Missense_Mutation_p.S459P|EMR2_ENST00000594294.1_Missense_Mutation_p.S421P|EMR2_ENST00000392965.3_Missense_Mutation_p.S470P|EMR2_ENST00000595839.1_Missense_Mutation_p.S328P	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	470					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACACGGTGGGAGAAGGTGAAG	0.587000													9	89					0	0	0.004482	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955453	18955453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:18955453C>A	ENST00000302797.3	-	1	1103	c.879G>T	c.(877-879)agG>agT	p.R293S		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	293					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGCAGAGCCCTCTGGAGAA	0.552000													12	66					1.08611e-07	1.42127e-07	0.000978	1	0
C9orf84	158401	broad.mit.edu	37	9	114454670	114454670	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:114454670G>A	ENST00000394779.3	-	23	3522	c.3278C>T	c.(3277-3279)gCt>gTt	p.A1093V	C9orf84_ENST00000318737.4_Missense_Mutation_p.A1132V|C9orf84_ENST00000374287.3_Missense_Mutation_p.A1132V|C9orf84_ENST00000394777.4_Missense_Mutation_p.A1058V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1132										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAAATCAGAAGCTGAACTTTG	0.358000													7	35					0	0	0.001984	0	0
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:24366257C>T	ENST00000005284.3	+	3	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587000													7	51					0	0	0.004482	0	0
BCL10	8915	broad.mit.edu	37	1	85733446	85733446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:85733446G>C	ENST00000370580.1	-	3	1303	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	189					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AAGTGTAGTTGAAGAGAAGAT	0.453000			T	IGH@	MALT								8	26					0	0	0.003080	0	0
XIRP2	129446	broad.mit.edu	37	2	167760139	167760139	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:167760139G>A	ENST00000409195.1	+	2	236	c.147G>A	c.(145-147)gaG>gaA	p.E49E	XIRP2_ENST00000420519.1_Silent_p.E49E|XIRP2_ENST00000409728.1_Silent_p.E49E|XIRP2_ENST00000295237.9_Silent_p.E49E|XIRP2_ENST00000409043.1_Silent_p.E49E|XIRP2_ENST00000409756.2_Silent_p.E49E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGAGGTAGTATCAG	0.488000													6	41					0	0	0.001984	0	0
ENGASE	64772	broad.mit.edu	37	17	77077994	77077994	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:77077994C>T	ENST00000579016.1	+	7	887	c.887C>T	c.(886-888)tCc>tTc	p.S296F	ENGASE_ENST00000539857.2_Missense_Mutation_p.S110F	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	296	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TTCTTTGATTCCTGCGACGGC	0.622000													11	122					0	0	0.000978	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261530	57261530	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:57261530C>G	ENST00000278426.3	-	8	1162	c.807G>C	c.(805-807)gaG>gaC	p.E269D	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.E269D	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	269					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCGAACCGTCCTCCAGGCTGG	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.003080	0	0
CDH26	60437	broad.mit.edu	37	20	58587739	58587739	+	Missense_Mutation	SNP	C	C	T	rs145724462	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:58587739C>T	ENST00000348616.4	+	18	2753	c.2453C>T	c.(2452-2454)gCg>gTg	p.A818V	CDH26_ENST00000350849.6_Missense_Mutation_p.A151V|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.A110V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTCAAAAGCGACTCCGTTT	0.453000													20	47					0	0	0.001882	0	0
OR8D1	283159	broad.mit.edu	37	11	124180000	124180000	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:124180000G>C	ENST00000357821.2	-	1	733	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGCTGTAGAGGATGAAGGCAT	0.512000													8	20					0	0	0.004482	0	0
FAM120C	54954	broad.mit.edu	37	X	54209178	54209178	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:54209178C>A	ENST00000375180.2	-	1	510	c.454G>T	c.(454-456)Gcg>Tcg	p.A152S	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.A152S|FAM120C_ENST00000477084.1_Missense_Mutation_p.A152S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	152										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCACAGCGCTGACAAGTAG	0.701000													4	24					0.00909568	0.00989303	0.009096	1	0
ZNF276	92822	broad.mit.edu	37	16	89799734	89799734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:89799734C>A	ENST00000289816.5	+	7	1281	c.969C>A	c.(967-969)agC>agA	p.S323R	ZNF276_ENST00000568064.1_Missense_Mutation_p.S306R|ZNF276_ENST00000446326.2_Missense_Mutation_p.S184R|ZNF276_ENST00000443381.2_Missense_Mutation_p.S398R	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGAGTGAAAGCAAAGAAGCCA	0.448000													14	93					0.000219431	0.000259751	0.002450	1	0
APOB	338	broad.mit.edu	37	2	21231013	21231013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:21231013C>G	ENST00000233242.1	-	26	8854	c.8727G>C	c.(8725-8727)gaG>gaC	p.E2909D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2909					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTCTTGATCTCGTTGCGCA	0.468000													14	146					0	0	0.003163	0	0
ATRX	546	broad.mit.edu	37	X	76938254	76938254	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:76938254C>A	ENST00000373344.5	-	9	2708	c.2494G>T	c.(2494-2496)Ggt>Tgt	p.G832C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.G794C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	832					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGGcagcaccaattttactc	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	185					0.000978159	0.00109961	0.000978	1	0
VPS13D	55187	broad.mit.edu	37	1	12364726	12364726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:12364726C>T	ENST00000358136.3	+	26	6510	c.6380C>T	c.(6379-6381)tCc>tTc	p.S2127F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2127F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2127					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)		CCCAGTACCTCCACCAAGCAG	0.547000													6	46					0	0	0.001984	0	0
SLTM	79811	broad.mit.edu	37	15	59192029	59192029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:59192029T>A	ENST00000380516.2	-	7	784	c.697A>T	c.(697-699)Acg>Tcg	p.T233S	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	233	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCACAGTCGTATGAGCTTCC	0.473000													10	57					0	0	0.000978	0	0
ZBP1	81030	broad.mit.edu	37	20	56188371	56188371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:56188371C>G	ENST00000340462.4	-	4	729	c.449G>C	c.(448-450)aGa>aCa	p.R150T	ZBP1_ENST00000395822.3_Missense_Mutation_p.R98T|ZBP1_ENST00000371173.3_Missense_Mutation_p.R173T|ZBP1_ENST00000541799.1_Missense_Mutation_p.R173T|ZBP1_ENST00000343535.4_Missense_Mutation_p.R173T			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	173						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGACTTTGCTCTTCTTCCAGA	0.453000													4	77					0	0	0.000602	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839703	109839703	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:109839703T>A	ENST00000357155.1	-	4	588	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	180	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTGCACCGTGTATCCCAGAAG	0.577000													27	104					0	0	0.005443	0	0
FAM45B	55855	broad.mit.edu	37	X	129629658	129629658	+	RNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:129629658G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CTTACACACAGCACTGATGCT	0.483000													11	46					0	0	0.003163	0	0
CALN1	83698	broad.mit.edu	37	7	71252772	71252772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:71252772G>T	ENST00000395275.2	-	7	1162	c.774C>A	c.(772-774)agC>agA	p.S258R	CALN1_ENST00000431984.1_Missense_Mutation_p.S216R|CALN1_ENST00000395276.2_Missense_Mutation_p.S216R|CALN1_ENST00000412588.1_Missense_Mutation_p.S258R|CALN1_ENST00000405452.2_Missense_Mutation_p.S216R|CALN1_ENST00000329008.5_Missense_Mutation_p.S216R	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	216						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ACTCCATGCCGCTCCGGAGTA	0.587000													9	24					0.000442599	0.000513048	0.006214	1	0
OR6K3	391114	broad.mit.edu	37	1	158687287	158687287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:158687287T>C	ENST00000368146.1	-	1	666	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	OR6K3_ENST00000368145.1_Missense_Mutation_p.I207V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGGTAATGATGATGGTCACA	0.448000													15	120					0	0	0.003163	0	0
RAG1	5896	broad.mit.edu	37	11	36596541	36596541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:36596541G>T	ENST00000299440.5	+	2	1799	c.1687G>T	c.(1687-1689)Gat>Tat	p.D563Y		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	563					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTTCCGCTATGATTCAGCTTT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				8	42					0.00621372	0.0068026	0.006214	1	0
ZBTB21	49854	broad.mit.edu	37	21	43412359	43412359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr21:43412359C>A	ENST00000310826.5	-	3	2029	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E616*|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E616*	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGGAATTTTTCATCCAAAACA	0.453000													7	78					2.17888e-05	2.65427e-05	0.006214	1	0
KIAA1407	57577	broad.mit.edu	37	3	113755597	113755597	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:113755597G>A	ENST00000295878.3	-	5	598	c.452C>T	c.(451-453)aCc>aTc	p.T151I	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	151										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTGAACGGTGGTACTTTCCTC	0.338000													6	30					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228432127	228432127	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:228432127G>C	ENST00000570156.2	+	12	3686	c.3612G>C	c.(3610-3612)aaG>aaC	p.K1204N	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1112N|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1112N|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	148	Ig-like 12.				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)				AGGATGGGAAGAAGCTGAGCT	0.617000													12	132					0	0	0.000978	0	0
COL4A3	1285	broad.mit.edu	37	2	228148568	228148568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:228148568G>C	ENST00000396578.3	+	33	2904	c.2742G>C	c.(2740-2742)caG>caC	p.Q914H	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	914	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CACCAGGGCAGAGGGGTAAGT	0.448000													7	62					0	0	0.001984	0	0
HGF	3082	broad.mit.edu	37	7	81372711	81372711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:81372711C>A	ENST00000222390.5	-	7	1049	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	HGF_ENST00000444829.2_Missense_Mutation_p.D275Y|HGF_ENST00000457544.2_Missense_Mutation_p.D270Y|HGF_ENST00000453411.1_Missense_Mutation_p.D270Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	275	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTGTGAGGGTCAAGAGTATAG	0.478000													16	38					4.7546e-09	6.42255e-09	0.004007	1	0
MRPL39	54148	broad.mit.edu	37	21	26976215	26976215	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr21:26976215G>A	ENST00000307301.7	-	3	354	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	MRPL39_ENST00000352957.4_Silent_p.L105L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	105						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAGCCAGAATGGACTTC	0.363000													4	23					0	0	0.000602	0	0
MRPL1	65008	broad.mit.edu	37	4	78830471	78830471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:78830471A>T	ENST00000315567.8	+	7	1051	c.722A>T	c.(721-723)cAt>cTt	p.H241L		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	241							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAAATGGACATGAAATTAAG	0.308000													11	69					0	0	0.003163	0	0
NRXN3	9369	broad.mit.edu	37	14	79454429	79454429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:79454429G>T	ENST00000554719.1	+	12	2579	c.2088G>T	c.(2086-2088)gaG>gaT	p.E696D	NRXN3_ENST00000335750.5_Missense_Mutation_p.E696D	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAATGGGAGGGCTTCACCT	0.443000													10	28					9.70103e-10	1.33738e-09	0.008291	1	0
RILPL1	353116	broad.mit.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					neuroprotection	cytosol		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498000													4	7					0.00024832	0.000292913	0.009096	1	0
SPAG5	10615	broad.mit.edu	37	17	26925630	26925630	+	Silent	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:26925630A>T	ENST00000321765.5	-	2	407	c.75T>A	c.(73-75)ccT>ccA	p.P25P		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	25					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTTCACGGAGAGGAGTTCTCA	0.587000													9	38					0	0	0.008291	0	0
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:164737452C>A	ENST00000264382.3	-	28	3423	c.3361G>T	c.(3361-3363)Gca>Tca	p.A1121S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1121	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)	CGCTTAAATGCTGTATGTTCC	0.438000										HNSCC(35;0.089)			6	45					8.12818e-05	9.69018e-05	0.001984	1	0
CHPF	79586	broad.mit.edu	37	2	220404493	220404493	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:220404493A>G	ENST00000243776.6	-	4	2188	c.1940T>C	c.(1939-1941)tTc>tCc	p.F647S	CHPF_ENST00000535926.1_Missense_Mutation_p.F485S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	647						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTGGGTGGAAGGCTTGGAA	0.662000													7	87					0	0	0.001984	0	0
SIDT2	51092	broad.mit.edu	37	11	117062658	117062658	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:117062658G>C	ENST00000324225.4	+	19	2331	c.1800G>C	c.(1798-1800)ccG>ccC	p.P600P	SIDT2_ENST00000431081.2_Silent_p.P597P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	600						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGCGGCACCCGGACATCAACG	0.587000													6	75					0	0	0.001984	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342531	16342531	+	RNA	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:16342531G>C	ENST00000475953.1	+	0	173				C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA	NR_027667.1																						CTGCGCCCGCGTGGCTTTCGC	0.687000													8	45					0	0	0.006214	0	0
DPYD	1806	broad.mit.edu	37	1	98187218	98187218	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:98187218C>T	ENST00000370192.3	-	5	431	c.331G>A	c.(331-333)Gga>Aga	p.G111R	DPYD_ENST00000306031.5_Missense_Mutation_p.G111R|DPYD_ENST00000423006.2_Missense_Mutation_p.G74R	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	111					'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)	TTAGCAGCTCCATAATAGTTC	0.318000													5	26					0	0	0.000602	0	0
LYNX1	66004	broad.mit.edu	37	8	143857024	143857024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:143857024C>G	ENST00000398906.1	-	3	525	c.141G>C	c.(139-141)atG>atC	p.M47I	LYNX1_ENST00000395192.2_Missense_Mutation_p.M47I|LYNX1_ENST00000335822.5_Missense_Mutation_p.M47I|LYNX1_ENST00000345173.6_Missense_Mutation_p.M47I|LYNX1_ENST00000523332.1_Missense_Mutation_p.M47I	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	48	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCGCGTGGTCATGCAGTAGG	0.662000													4	13					0	0	0.009096	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54678090	54678090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:54678090G>C	ENST00000546500.1	+	9	1571	c.956G>C	c.(955-957)aGa>aCa	p.R319T	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R371T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	371	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTGGCAGAAGATTTTAATTA	0.378000													9	21					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9089456	9089456	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:9089456T>A	ENST00000397910.4	-	1	2562	c.2359A>T	c.(2359-2361)Aat>Tat	p.N787Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	787	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						GAAGTTGCATTTCTGACTCTT	0.507000													25	128					0	0	0.004656	0	0
THNSL2	55258	broad.mit.edu	37	2	88484874	88484874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:88484874G>T	ENST00000324166.5	+	7	2796	c.1105G>T	c.(1105-1107)Gtg>Ttg	p.V369L	THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V369L|THNSL2_ENST00000402102.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	369					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATCCGTGTCAGTGTCGGATGA	0.572000													11	40					1.61879e-10	2.27855e-10	0.001368	1	0
TTC38	55020	broad.mit.edu	37	22	46682990	46682990	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr22:46682990C>T	ENST00000381031.3	+	10	931	c.855C>T	c.(853-855)gcC>gcT	p.A285A	TTC38_ENST00000445282.2_Silent_p.A227A	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	285							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCCTGCAGGCCAACGATGCAA	0.647000													9	15					0	0	0.004482	0	0
TMEM255B	348013	broad.mit.edu	37	13	114504650	114504650	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr13:114504650T>A	ENST00000375353.3	+	7	561	c.534T>A	c.(532-534)taT>taA	p.Y178*		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCGCCTACTATGAGTTCATCG	0.627000													5	19					0	0	0.001168	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121908	90121908	+	RNA	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:90121908C>A	ENST00000483379.1	+	0	307																											ACAGAGTCACCATCACTTGTC	0.478000													22	355					2.37509e-13	3.42955e-13	0.010504	1	0
EPHB1	2047	broad.mit.edu	37	3	134670690	134670690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:134670690C>T	ENST00000398015.3	+	3	971	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	201	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCATTGTGCAAAATTTTGC	0.478000													32	135					0	0	0.002096	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411294	43411294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr21:43411294C>A	ENST00000310826.5	-	3	3094	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	ZBTB21_ENST00000398511.3_Nonsense_Mutation_p.E971*|ZBTB21_ENST00000398505.3_Nonsense_Mutation_p.E770*|ZBTB21_ENST00000398499.1_Nonsense_Mutation_p.E971*	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ACCTCAGATTCCTTATGTGCC	0.537000													8	72					2.17888e-05	2.65427e-05	0.006214	1	0
OR4N2	390429	broad.mit.edu	37	14	20296152	20296152	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:20296152C>T	ENST00000315947.1	+	1	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGATGTCCCACAGGTCATC	0.537000													39	154					0	0	0.007835	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													3	21					0	0	0.009096	0	0
KIF16B	55614	broad.mit.edu	37	20	16352372	16352372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:16352372G>A	ENST00000354981.2	-	21	3542	c.3385C>T	c.(3385-3387)Cgc>Tgc	p.R1129C	KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129C|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGAAGGCGTCTTTGGACT	0.438000													6	44					0	0	0.001168	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000													12	45					0	0	0.002450	0	0
NT5C3A	51251	broad.mit.edu	37	7	33057183	33057183	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:33057183G>A	ENST00000396152.2	-	8	761	c.459C>T	c.(457-459)ctC>ctT	p.L153L	NT5C3A_ENST00000381626.2_Silent_p.L141L|NT5C3A_ENST00000242210.7_Silent_p.L192L|NT5C3A_ENST00000405342.1_Silent_p.L153L|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Silent_p.L153L|NT5C3A_ENST00000409467.1_Silent_p.L141L	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		TATGTTGTTGGAGCTTATCAA	0.373000													35	42					0	0	0.004878	0	0
GMIP	51291	broad.mit.edu	37	19	19753363	19753363	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:19753363C>T	ENST00000203556.4	-	2	222	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GMIP_ENST00000445806.2_Missense_Mutation_p.E29K|GMIP_ENST00000587238.1_Missense_Mutation_p.E29K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	29					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGTGAGATTTCGAGGTTGTCC	0.567000													25	117					0	0	0.004656	0	0
USP28	57646	broad.mit.edu	37	11	113679033	113679033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:113679033G>A	ENST00000003302.4	-	18	2359	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	USP28_ENST00000260188.5_Missense_Mutation_p.A764V|USP28_ENST00000544967.1_Missense_Mutation_p.A472V|USP28_ENST00000545540.1_Missense_Mutation_p.A639V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	764					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTCAGTGCCGCTTCTACACC	0.517000													28	104					0	0	0.008361	0	0
UNC79	57578	broad.mit.edu	37	14	94084571	94084571	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:94084571C>A	ENST00000553484.1	+	30	4478	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	UNC79_ENST00000555664.1_Missense_Mutation_p.L1420M|UNC79_ENST00000393151.2_Missense_Mutation_p.L1420M|UNC79_ENST00000256339.4_Missense_Mutation_p.L1243M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1420						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						CAGCAAGATCCTGCTGCATCT	0.438000													8	29					5.4927e-09	7.38978e-09	0.004482	1	0
CSMD1	64478	broad.mit.edu	37	8	2808709	2808709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr8:2808709G>T	ENST00000602557.1	-	67	10686	c.10131C>A	c.(10129-10131)gaC>gaA	p.D3377E	CSMD1_ENST00000602723.1_Missense_Mutation_p.D3200E|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3200E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3199E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3376E|CSMD1_ENST00000520002.1_Missense_Mutation_p.D3377E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3377						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)		CATTGAACCAGTCAACAGTTA	0.473000													9	11					1.61879e-10	2.27855e-10	0.001368	1	0
CDKL4	344387	broad.mit.edu	37	2	39414782	39414782	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:39414782C>G	ENST00000378803.1	-	6	720	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CDKL4_ENST00000395035.3_Missense_Mutation_p.E241Q	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	241	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCTTCTGGCTCAGGTATACTG	0.313000													4	33					0	0	0.009096	0	0
HGFAC	3083	broad.mit.edu	37	4	3451002	3451002	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:3451002C>T	ENST00000382774.3	+	14	1939	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	HGFAC_ENST00000511533.1_Silent_p.G615G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	608	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.G608G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGAACGGCGTGGCTTACC	0.677000													14	72					0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561291	11561291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:11561291G>A	ENST00000294484.6	+	2	380	c.242G>A	c.(241-243)gGc>gAc	p.G81D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G81D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	81					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCTTCCTGGGCTGCAGCATC	0.612000													11	69					0	0	0.001368	0	0
NCOR2	9612	broad.mit.edu	37	12	124821386	124821386	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr12:124821386C>G	ENST00000356219.3	-	39	6204	c.6049G>C	c.(6049-6051)Gcg>Ccg	p.A2017P	NCOR2_ENST00000429285.2_Missense_Mutation_p.A2000P|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2010P|NCOR2_ENST00000404621.1_Missense_Mutation_p.A2000P|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1571P|NCOR2_ENST00000397355.1_Missense_Mutation_p.A2001P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2021					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGGTGGCGCCGGCGGGTCC	0.662000													5	23					0	0	0.000602	0	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:99795408A>G	ENST00000426455.1	+	11	1480	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	STAG3_ENST00000394018.2_Missense_Mutation_p.E300G|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E358G			Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562000													10	111					0	0	0.000978	0	0
SVEP1	79987	broad.mit.edu	37	9	113194760	113194760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:113194760C>T	ENST00000401783.2	-	31	5551	c.5215G>A	c.(5215-5217)Gtt>Att	p.V1739I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V1716I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1739	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGTGAAACGCCGTTCCAG	0.443000													16	61					0	0	0.006122	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216239	20216239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:20216239C>A	ENST00000331723.1	+	1	653	c.653C>A	c.(652-654)tCt>tAt	p.S218Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S218F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTATTCTCTTATGCTATC	0.507000													8	71					1.26484e-09	1.72245e-09	0.003080	1	0
AMBP	259	broad.mit.edu	37	9	116824992	116824992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:116824992C>T	ENST00000265132.3	-	7	912	c.650G>A	c.(649-651)gGt>gAt	p.G217D		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	217	Glycopeptide (secretory piece).				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGTTGCCCACCCCCTGATCC	0.542000													17	66					0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	32328364	32328364	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:32328364C>T	ENST00000357033.4	-	42	6158	c.5952G>A	c.(5950-5952)gtG>gtA	p.V1984V	DMD_ENST00000378677.2_Silent_p.V1980V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1984					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCAGTCATCACCATCATCG	0.368000													4	15					0	0	0.001168	0	0
LILRB3	11025	broad.mit.edu	37	19	54726852	54726852	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:54726852G>A	ENST00000391750.1	-	0	133				LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000346401.6_De_novo_Start_OutOfFrame|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_De_novo_Start_OutOfFrame|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGTCATGGCGTCTCCTCCCG	0.642000													6	56					0	0	0.001168	0	0
GPR125	166647	broad.mit.edu	37	4	22390066	22390066	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:22390066G>A	ENST00000334304.5	-	19	3497	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1076					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGAGTTGGGGGGCTGGACGT	0.498000													5	27					0	0	0.000602	0	0
ZNF496	84838	broad.mit.edu	37	1	247492647	247492647	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr1:247492647C>T	ENST00000294753.4	-	3	698	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZNF496_ENST00000366498.2_Silent_p.K78K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	78	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAATCTGCTCCTTGGTGTGCC	0.711000													11	91					0	0	0.008291	0	0
DHRS9	10170	broad.mit.edu	37	2	169938262	169938262	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:169938262C>T	ENST00000327239.4	+	5	1675	c.171C>T	c.(169-171)atC>atT	p.I57I	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000436483.2_Silent_p.I57I|DHRS9_ENST00000432060.2_Silent_p.I117I|DHRS9_ENST00000428522.1_Silent_p.I57I|DHRS9_ENST00000357546.2_Silent_p.I57I|DHRS9_ENST00000412271.1_Silent_p.I57I|DHRS9_ENST00000602501.1_Silent_p.I57I	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	57					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCATGTAATCGCTGCCTGTC	0.433000													20	39					0	0	0.008871	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502131	90502131	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:90502131G>A	ENST00000325643.5	+	4	2795	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGAACAACAAGCAAGTCAGTC	0.597000													7	40					0	0	0.003080	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:26045730C>T	ENST00000540144.1	+	1	92	c.92C>T	c.(91-93)cCg>cTg	p.P31L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	31					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						AAGAGCGCTCCGGCCACCGGT	0.612000													7	72					0	0	0.001984	0	0
HARS	3035	broad.mit.edu	37	5	140070834	140070834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr5:140070834C>G	ENST00000504156.1	-	1	775	c.56G>C	c.(55-57)cGa>cCa	p.R19P	HARS_ENST00000431330.2_Missense_Mutation_p.R19P|HARS_ENST00000457527.2_Missense_Mutation_p.R19P|HARS_ENST00000438307.2_Missense_Mutation_p.R19P|HARS_ENST00000307633.3_Missense_Mutation_p.R19P|HARS_ENST00000415192.2_Missense_Mutation_p.R19P|HARS_ENST00000448240.1_5'UTR	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	19	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTTGAGGCCTCGCACGCGCTC	0.647000													3	23					0	0	0.004672	0	0
RRBP1	6238	broad.mit.edu	37	20	17640864	17640864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:17640864G>A	ENST00000377813.1	-	3	592	c.289C>T	c.(289-291)Cga>Tga	p.R97*	RRBP1_ENST00000377807.2_Nonsense_Mutation_p.R97*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.R97*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.R97*|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	97					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACTGGTTCTCGAAGGAGGACA	0.542000													5	19					0	0	0.000602	0	0
FAM195A	84331	broad.mit.edu	37	16	698178	698178	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr16:698178C>A	ENST00000307650.4	+	5	650	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	157										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						CGAGAATCACCAGCTGTTCCT	0.657000													4	19					0.00909568	0.00989303	0.009096	1	0
CTSZ	1522	broad.mit.edu	37	20	57576612	57576612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:57576612C>A	ENST00000217131.5	-	3	513	c.395G>T	c.(394-396)tGt>tTt	p.C132F		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	132					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACCCCCTTCACAGGAGCCAGC	0.602000													8	46					5.18039e-06	6.47549e-06	0.003080	1	0
NPSR1	387129	broad.mit.edu	37	7	34867158	34867158	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:34867158C>A	ENST00000360581.1	+	5	752	c.624C>A	c.(622-624)acC>acA	p.T208T	NPSR1_ENST00000381539.3_Silent_p.T208T|NPSR1_ENST00000531252.1_Silent_p.T197T|NPSR1_ENST00000359791.1_Silent_p.T208T|NPSR1_ENST00000381542.1_Silent_p.T142T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	208						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTACTGGACCCCATACATGA	0.572000													11	130					9.31168e-06	1.15534e-05	0.001855	1	0
PIPSL	266971	broad.mit.edu	37	10	95720287	95720287	+	RNA	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:95720287G>A	ENST00000480546.1	-	0	1010					NR_002319.2																						ATTGTGTTTCGCTGCTTAAGG	0.488000													6	55					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49051255	49051255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:49051255C>G	ENST00000395474.3	+	2	2658	c.2378C>G	c.(2377-2379)tCa>tGa	p.S793*	WDR6_ENST00000448293.1_Nonsense_Mutation_p.S712*|WDR6_ENST00000415265.2_Nonsense_Mutation_p.S211*	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	763					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)		ACCACAGGCTCAGCCCACGCA	0.577000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179427449	179427449	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:179427449C>T	ENST00000589042.1	-	326	83634	c.83410G>A	c.(83410-83412)Gaa>Aaa	p.E27804K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25236K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26163K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18931K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18864K|TTN_ENST00000460472.2_Missense_Mutation_p.E18739K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26163	Ig-like 130.						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)			TCTCGTTTTTCGACAATGTAG	0.358000													14	35					0	0	0.001855	0	0
DST	667	broad.mit.edu	37	6	56458704	56458704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:56458704C>A	ENST00000370754.5	-	48	12389	c.12390G>T	c.(12388-12390)gaG>gaT	p.E4130D	DST_ENST00000421834.2_Missense_Mutation_p.E1864D|DST_ENST00000244364.6_Missense_Mutation_p.E1538D|DST_ENST00000446842.2_Missense_Mutation_p.E3626D|DST_ENST00000370788.2_Missense_Mutation_p.E1864D|DST_ENST00000361203.3_Missense_Mutation_p.E3950D|DST_ENST00000370769.4_Missense_Mutation_p.E3952D|DST_ENST00000312431.6_Missense_Mutation_p.E3950D			Q03001	DYST_HUMAN	dystonin	3950					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)			CTGCACCTGCCTCCAGGTTTT	0.413000													13	116					0.00136819	0.00152782	0.001368	1	0
PCLO	27445	broad.mit.edu	37	7	82545902	82545902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:82545902G>T	ENST00000423517.2	-	7	11737	c.11400C>A	c.(11398-11400)taC>taA	p.Y3800*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Y520*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Y3800*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3731	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATTTCCAGGTATCGTAGCT	0.443000													14	67					1.05317e-09	1.44595e-09	0.002450	1	0
DNAI2	64446	broad.mit.edu	37	17	72301536	72301536	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:72301536G>T	ENST00000579490.1	+	8	1472	c.1337G>T	c.(1336-1338)cGc>cTc	p.R446L	DNAI2_ENST00000582036.1_Missense_Mutation_p.R389L|DNAI2_ENST00000446837.2_Missense_Mutation_p.R389L|DNAI2_ENST00000311014.6_Missense_Mutation_p.R389L|DNAI2_ENST00000307504.5_Missense_Mutation_p.R246L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	389					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGACAGCCCGCATTTGGTCT	0.592000									Kartagener syndrome				16	27					2.32078e-09	3.14762e-09	0.003163	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847083	47847083	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:47847083C>A	ENST00000339488.4	-	3	1530	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	499						integral to membrane	hedgehog receptor activity										AAACACTTGGCGAATCACTGG	0.453000													18	23					0.00074312	0.000841031	0.006122	1	0
C15orf57	90416	broad.mit.edu	37	15	40855224	40855224	+	Silent	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr15:40855224G>C	ENST00000558750.1	-	2	217	c.18C>G	c.(16-18)ctC>ctG	p.L6L	C15orf57_ENST00000559911.1_5'UTR|C15orf57_ENST00000558871.1_5'UTR|C15orf57_ENST00000558113.1_5'UTR|C15orf57_ENST00000416810.2_5'UTR|C15orf57_ENST00000358005.3_5'UTR|C15orf57_ENST00000560305.1_5'UTR|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_5'UTR			Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						TTTGGAATCTGAGCTATAAAA	0.443000													4	95					0	0	0.009096	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931014	22931014	+	RNA	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr22:22931014A>G	ENST00000390302.2	+	0	267																											CTCCTGATTTACAATGTCAAT	0.517000													76	224					0	0	0.003610	0	0
FLRT3	23767	broad.mit.edu	37	20	14306548	14306548	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr20:14306548C>T	ENST00000378053.3	-	2	1861	c.1605G>A	c.(1603-1605)ggG>ggA	p.G535G	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.G535G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	535					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGCCACAGCCCCACCAATGA	0.473000													4	78					0	0	0.009096	0	0
ZNF585A	199704	broad.mit.edu	37	19	37660826	37660826	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:37660826C>G	ENST00000585860.2	-	4	565	c.423G>C	c.(421-423)gaG>gaC	p.E141D	ZNF585A_ENST00000356958.4_5'UTR|ZNF585A_ENST00000392157.2_5'UTR|ZNF585A_ENST00000588354.1_5'UTR|ZNF585A_ENST00000292841.5_5'UTR|ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000588723.1_5'UTR																							CACACTGGGTCTCAACCCTTT	0.527000													10	13					0	0	0.006214	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135218	23135218	+	RNA	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr22:23135218G>C	ENST00000390314.2	+	0	122																											ACTCAGCCTCGCTCAGTGTCC	0.567000													7	232					0	0	0.000978	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957358	39957358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:39957358A>G	ENST00000599117.1	+	14	1377	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q333R|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q337R|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q333R|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q337R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	337	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCCTCCACAGAGGCTGTTT	0.577000													16	65					0	0	0.004007	0	0
C11orf84	144097	broad.mit.edu	37	11	63585711	63585711	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:63585711G>A	ENST00000294244.4	+	3	780	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	161	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TGCCCACCCAGACCCAGACGC	0.602000													10	87					0	0	0.006214	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406331	33406331	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr6:33406331G>C	ENST00000418600.2	+	9	1623	c.1522G>C	c.(1522-1524)Gat>Cat	p.D508H	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.D508H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.D449H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	508	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATACCTCAAGGATGCCATTGG	0.522000													5	120					0	0	0.000602	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994092	106994092	+	RNA	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr14:106994092C>T	ENST00000390624.2	-	0	151																											CCCCCAGACTCCACCAGCTGC	0.542000													10	151					0	0	0.000978	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291161	141291161	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:141291161A>G	ENST00000247452.3	-	3	960	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	205	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AACACACAGAAGTGGTCAGGG	0.478000										HNSCC(46;0.14)			27	120					0	0	0.003954	0	0
ZNF99	7652	broad.mit.edu	37	19	22940023	22940023	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:22940023C>A	ENST00000397104.3	-	6	2307	c.2308G>T	c.(2308-2310)Ggg>Tgg	p.G770W						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTCCCAGTATAAATT	0.373000													7	38					2.0095e-06	2.54993e-06	0.001984	1	0
AOX1	316	broad.mit.edu	37	2	201515740	201515740	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:201515740A>T	ENST00000374700.2	+	26	3132	c.2891A>T	c.(2890-2892)tAc>tTc	p.Y964F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	964					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAACACCCTACAAACAAGAG	0.418000													13	58					0	0	0.001855	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949867	45949867	+	Missense_Mutation	SNP	C	C	T	rs150478912		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:45949867C>T	ENST00000531526.1	+	13	2005	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R601C|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R632C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R601C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R632C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.627000													18	153					0	0	0.007413	0	0
GAK	2580	broad.mit.edu	37	4	884359	884359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr4:884359G>A	ENST00000314167.4	-	10	1152	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	GAK_ENST00000511163.1_Missense_Mutation_p.P269S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	348	Poly-Pro.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACGGGAGGGGGTGGCCCTCGG	0.647000													6	36					0	0	0.001984	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453257	50453257	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:50453257C>T	ENST00000447370.2	-	11	2157	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	SIGLEC11_ENST00000426971.2_Silent_p.E593E|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	689					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACATCTCCCTCTCCAATTGAA	0.597000													6	17					0	0	0.001168	0	0
OR6V1	346517	broad.mit.edu	37	7	142749587	142749587	+	Silent	SNP	C	C	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr7:142749587C>T	ENST00000418316.1	+	1	171	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCATAGCTGACACCCACCTAC	0.502000													59	201					0	0	0.003610	0	0
RNF17	56163	broad.mit.edu	37	13	25417962	25417962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr13:25417962A>G	ENST00000255324.5	+	20	2736	c.2684A>G	c.(2683-2685)cAc>cGc	p.H895R	RNF17_ENST00000381921.1_Missense_Mutation_p.H895R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	895					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGAAGTACACAACTTAAAT	0.313000													4	18					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr17:7578500G>A	ENST00000420246.2	-	5	562	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCCACAGCTGCACAGGGCAG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	36					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451585	37451585	+	Missense_Mutation	SNP	G	G	T	rs67979396		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr10:37451585G>T	ENST00000374660.1	+	16	1840	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G581W|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G581W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	637						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGCCTCCGGGGAAGCCATC	0.318000													16	65					6.94344e-10	9.61179e-10	0.006122	1	0
TLR8	51311	broad.mit.edu	37	X	12937480	12937480	+	Silent	SNP	C	C	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chrX:12937480C>A	ENST00000218032.6	+	2	408	c.321C>A	c.(319-321)ccC>ccA	p.P107P	TLR8_ENST00000311912.5_Silent_p.P125P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	107					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACGGAAATCCCGGTATACAAT	0.408000													19	101					6.94344e-10	9.61179e-10	0.006122	1	0
APOB	338	broad.mit.edu	37	2	21224710	21224710	+	Silent	SNP	G	G	A			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr2:21224710G>A	ENST00000233242.1	-	29	13711	c.13584C>T	c.(13582-13584)taC>taT	p.Y4528Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4528					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAATGTGTGGTAGTTTTGAA	0.363000													23	75					0	0	0.001882	0	0
SI	6476	broad.mit.edu	37	3	164786586	164786586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr3:164786586G>T	ENST00000264382.3	-	5	469	c.407C>A	c.(406-408)cCt>cAt	p.P136H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	136	Isomaltase.				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)	AAATAGTGTAGGTGAAGGTAT	0.333000										HNSCC(35;0.089)			7	44					5.18039e-06	6.47549e-06	0.003080	1	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	85	---	---	---	---					
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)ggg>gg	p.GL10del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	10					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773													2	4	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	AT	rs59536241	by1000genomes	TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr4:68632418_68632419insAT	ENST00000500538.2	+	0	1905				RP11-453E17.1_ENST00000502758.1_RNA																							cacacacacacaTATATATAct	0.431													3	3	---	---	---	---					
HLA-A	3105	broad.mit.edu	37	6	29911171	29911171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr6:29911171delG	ENST00000396634.1	+	5	811	c.470delG	c.(469-471)tgfs	p.W157fs	HLA-A_ENST00000376802.2_Frame_Shift_Del_p.W157fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.W157fs|HLA-A_ENST00000376806.5_Frame_Shift_Del_p.W157fs			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	157	Alpha-2.				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						CTGCGCTCTTGGACCGCGGCG	0.677									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)			9	67	---	---	---	---					
FOXD4L5	653427	broad.mit.edu	37	9	70177785	70177785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr9:70177785delC	ENST00000377420.1	-	1	1030	c.199delG	c.(199-201)ttfs	p.V67fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	67					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GGAAGCGCAACCCCGCCCCAC	0.677													7	113	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857333	113857333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr11:113857333delC	ENST00000504030.2	+	7	1244	c.799delC	c.(799-801)ccfs	p.P268fs	HTR3A_ENST00000355556.2_Frame_Shift_Del_p.P274fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.P253fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.P268fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.P12fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.P274fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	268					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTTCTACCTGCCCCCCAACAG	0.592													8	45	---	---	---	---					
ZNF208	7757	broad.mit.edu	37	19	22154074	22154074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:22154074delT	ENST00000397126.4	-	4	3910	c.3762delA	c.(3760-3762)aafs	p.K1254fs	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCTTCACATTTGTAGGGTT	0.383													13	42	---	---	---	---					
MED25	81857	broad.mit.edu	37	19	50333452	50333452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr19:50333452delC	ENST00000312865.6	+	7	849	c.796delC	c.(796-798)ccfs	p.P267fs	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	267	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCCTCTGCCCCCCGTCCC	0.662													16	21	---	---	---	---					
NDUFA6	4700	broad.mit.edu	37	22	42486758	42486758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	fff8b0d7-2c1c-4a8d-b8fc-ee88dbd59e83	g.chr22:42486758delG	ENST00000498737.2	-	1	201	c.69delC	c.(67-69)tgfs	p.C23fs	NDUFA6_ENST00000602404.1_5'UTR|SMDT1_ENST00000547929.1_Intron	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	23					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	TCTTGCCAAAGCATCCACTCC	0.612											OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	165	---	---	---	---					
FOXD4L5	653427	broad.mit.edu	37	9	70177785	70177785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr9:70177785delC	ENST00000377420.1	-	1	1030	c.199delG	c.(199-201)ttfs	p.V67fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	67					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GGAAGCGCAACCCCGCCCCAC	0.677													7	113	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857333	113857333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr11:113857333delC	ENST00000504030.2	+	7	1244	c.799delC	c.(799-801)ccfs	p.P268fs	HTR3A_ENST00000355556.2_Frame_Shift_Del_p.P274fs|HTR3A_ENST00000535865.1_Frame_Shift_Del_p.P12fs|HTR3A_ENST00000299961.5_Frame_Shift_Del_p.P253fs|HTR3A_ENST00000375498.2_Frame_Shift_Del_p.P274fs|HTR3A_ENST00000506841.2_Frame_Shift_Del_p.P268fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	268					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTTCTACCTGCCCCCCAACAG	0.592													8	45	---	---	---	---					
ZNF208	7757	broad.mit.edu	37	19	22154074	22154074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:22154074delT	ENST00000397126.4	-	4	3910	c.3762delA	c.(3760-3762)aafs	p.K1254fs	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCTTCACATTTGTAGGGTT	0.383													13	42	---	---	---	---					
MED25	81857	broad.mit.edu	37	19	50333452	50333452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr19:50333452delC	ENST00000312865.6	+	7	849	c.796delC	c.(796-798)ccfs	p.P267fs	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	267	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCCTCTGCCCCCCGTCCC	0.662													16	21	---	---	---	---					
NDUFA6	4700	broad.mit.edu	37	22	42486758	42486758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7283-01A-11D-2036-08	TCGA-55-7283-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a16e4263-6135-4ce4-929a-5e98395fa60a	3f55e201-26a4-4388-a735-7a17faa9a4dd	g.chr22:42486758delG	ENST00000498737.2	-	1	201	c.69delC	c.(67-69)tgfs	p.C23fs	SMDT1_ENST00000547929.1_Intron|NDUFA6_ENST00000602404.1_5'UTR	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	23					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	TCTTGCCAAAGCATCCACTCC	0.612											OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	165	---	---	---	---					
