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
TMEM132E	124842	broad.mit.edu	37	17	32964838	32964838	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:32964838C>T	ENST00000321639.5	+	10	2870	c.2542C>T	c.(2542-2544)Ctg>Ttg	p.L848L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	848						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)		CTGGGTGTTCCTGGGCAACGG	0.657000													26	76					0	0	0.004656	0	0
OR2D3	120775	broad.mit.edu	37	11	6942918	6942918	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:6942918T>A	ENST00000317834.3	+	1	714	c.686T>A	c.(685-687)cTg>cAg	p.L229Q		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGTCTCCCTGATTCTTGGT	0.493000													5	26					0	0	0.014758	0	0
NUP98	4928	broad.mit.edu	37	11	3707286	3707286	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:3707286T>C	ENST00000324932.7	-	29	5013	c.4593A>G	c.(4591-4593)ctA>ctG	p.L1531L	NUP98_ENST00000355260.3_Intron|NUP98_ENST00000359171.4_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1548					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACTGGCCTGTAGCACACCTT	0.547000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								12	71					0	0	0.002450	0	0
FAM120C	54954	broad.mit.edu	37	X	54159249	54159249	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:54159249C>A	ENST00000375180.2	-	9	1994	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D	FAM120C_ENST00000328235.4_Missense_Mutation_p.E646D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	646										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						CTGGAGGCAGCTCCATGTTAC	0.433000													13	21					6.31663e-08	7.33098e-08	0.003163	1	0
TP53BP2	7159	broad.mit.edu	37	1	223990487	223990487	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:223990487C>G	ENST00000391878.2	-	9	1323	c.555G>C	c.(553-555)ctG>ctC	p.L185L	TP53BP2_ENST00000343537.7_Silent_p.L314L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	308					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCCGGTCCCTCAGCTCATTAA	0.443000													42	70					0	0	0.008740	0	0
PTPN13	5783	broad.mit.edu	37	4	87726463	87726463	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:87726463G>T	ENST00000436978.1	+	44	7181	c.6701G>T	c.(6700-6702)tGt>tTt	p.C2234F	PTPN13_ENST00000411767.2_Missense_Mutation_p.C2229F|PTPN13_ENST00000511467.1_Missense_Mutation_p.C2234F|PTPN13_ENST00000316707.6_Missense_Mutation_p.C2038F|PTPN13_ENST00000427191.2_Missense_Mutation_p.C2210F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2229	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTGGATCAGTGTCTAATTGGG	0.303000													11	14					3.07112e-06	3.38096e-06	0.010729	1	0
LZTS1	11178	broad.mit.edu	37	8	20110569	20110569	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:20110569G>A	ENST00000381569.1	-	3	1230	c.873C>T	c.(871-873)tcC>tcT	p.S291S	LZTS1_ENST00000522290.1_Silent_p.S291S|LZTS1_ENST00000265801.6_Silent_p.S291S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	291					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGGCCAGGCTGGAGGCAAGCT	0.672000													28	45					0	0	0.006320	0	0
FLG	2312	broad.mit.edu	37	1	152275666	152275666	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:152275666G>C	ENST00000368799.1	-	3	11731	c.11696C>G	c.(11695-11697)tCc>tGc	p.S3899C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGTGTCTGGAGCCATCTCT	0.522000									Ichthyosis				31	103					0	0	0.008361	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121855	90121855	+	RNA	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:90121855C>A	ENST00000483379.1	+	0	254																											ATGTAACATCCAGATGACCCA	0.438000													59	181					1.95512e-22	3.01392e-22	0.014410	1	0
KLHL36	79786	broad.mit.edu	37	16	84691178	84691178	+	Silent	SNP	G	G	T	rs150196812	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:84691178G>T	ENST00000564996.1	+	3	906	c.765G>T	c.(763-765)tcG>tcT	p.S255S	KLHL36_ENST00000258157.5_Silent_p.S255S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	255										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCGTGTGCTCGCTGCTGCCCA	0.682000													29	23					3.65163e-15	5.05505e-15	0.006320	1	0
PPP2R3B	28227	broad.mit.edu	37	X	302133	302133	+	Splice_Site	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:302133T>C	ENST00000390665.3	-	9	1104		c.e9-2			NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta						cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTCTGCCTCTAGATCGAAAG	0.557000													59	144					0	0	0.014410	0	0
ACSBG1	23205	broad.mit.edu	37	15	78465984	78465984	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:78465984C>T	ENST00000258873.4	-	13	2245	c.2040G>A	c.(2038-2040)caG>caA	p.Q680Q	ACSBG1_ENST00000560817.1_Silent_p.Q438Q|ACSBG1_ENST00000541759.1_Silent_p.Q438Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	680					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGGCCCACTTCTGGATGTGGT	0.572000													16	76					0	0	0.003163	0	0
CD163	9332	broad.mit.edu	37	12	7651467	7651467	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7651467A>T	ENST00000359156.4	-	4	977	c.775T>A	c.(775-777)Tca>Aca	p.S259T	CD163_ENST00000541972.1_Missense_Mutation_p.S247T|CD163_ENST00000396620.3_Missense_Mutation_p.S259T|CD163_ENST00000432237.2_Missense_Mutation_p.S259T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	259	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTTACTTGAGCAAATCACT	0.413000													74	140					0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	71209580	71209580	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:71209580T>G	ENST00000393567.2	-	5	596	c.446A>C	c.(445-447)gAt>gCt	p.D149A	HYDIN_ENST00000288168.10_Missense_Mutation_p.D166A|HYDIN_ENST00000393550.2_Missense_Mutation_p.D149A|HYDIN_ENST00000541601.1_Missense_Mutation_p.D166A|HYDIN_ENST00000321489.5_Missense_Mutation_p.D149A|HYDIN_ENST00000538248.1_Missense_Mutation_p.D176A|HYDIN_ENST00000448089.2_Missense_Mutation_p.D149A|HYDIN_ENST00000448691.1_Missense_Mutation_p.D149A	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	149										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGGCCAATATCTTTGGGGCT	0.443000													66	27					0	0	0.014410	0	0
CEP128	145508	broad.mit.edu	37	14	81209421	81209421	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:81209421C>A	ENST00000555265.1	-	19	3179	c.2804G>T	c.(2803-2805)aGa>aTa	p.R935I	CEP128_ENST00000281129.3_Missense_Mutation_p.R935I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	935						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ACACACACCTCTCTTCTCACG	0.383000													23	38					4.22769e-11	5.35925e-11	0.006320	1	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:7577551C>A	ENST00000420246.2	-	7	862	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000269305.4_Missense_Mutation_p.G244C|TP53_ENST00000359597.4_Missense_Mutation_p.G244C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)		TTCATGCCGCCCATGCAGGAA	0.582000		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)			61	24					6.26901e-30	1.03064e-29	0.014410	1	0
AHRR	57491	broad.mit.edu	37	5	434632	434632	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:434632G>T	ENST00000316418.5	+	12	1887	c.1843G>T	c.(1843-1845)Ggg>Tgg	p.G615W	AHRR_ENST00000505113.1_Missense_Mutation_p.G597W|AHRR_ENST00000506456.1_Missense_Mutation_p.G453W|AHRR_ENST00000512529.1_Missense_Mutation_p.G443W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	597	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGGCGTGCGGGGGGCTCAGCC	0.667000													4	60					0.00024832	0.000259756	0.009096	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590200	140590200	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140590200A>T	ENST00000239450.2	+	1	1910	c.1721A>T	c.(1720-1722)gAg>gTg	p.E574V	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E237V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		574	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCACCGAGCTGGTGCCC	0.697000													104	68					0	0	0.014410	0	0
ARSH	347527	broad.mit.edu	37	X	2942084	2942084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:2942084C>A	ENST00000381130.2	+	6	924	c.924C>A	c.(922-924)gaC>gaA	p.D308E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	308						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATGCCCTGGACCAGGAGCGCC	0.562000													8	31					5.18039e-06	5.67498e-06	0.003080	1	0
NR1I3	9970	broad.mit.edu	37	1	161205671	161205671	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:161205671C>T	ENST00000367983.4	-	3	498	c.204G>A	c.(202-204)ttG>ttA	p.L68L	NR1I3_ENST00000504010.1_Silent_p.L39L|NR1I3_ENST00000442691.2_Silent_p.L68L|NR1I3_ENST00000412844.2_Silent_p.L39L|NR1I3_ENST00000515621.1_5'UTR|NR1I3_ENST00000512372.1_Silent_p.L39L|NR1I3_ENST00000511944.1_Silent_p.L68L|NR1I3_ENST00000511676.1_Silent_p.L39L|NR1I3_ENST00000511748.1_Silent_p.L39L|NR1I3_ENST00000367985.3_Silent_p.L68L|NR1I3_ENST00000508740.1_Silent_p.L39L|NR1I3_ENST00000508387.1_Silent_p.L39L|NR1I3_ENST00000428574.2_Silent_p.L68L|NR1I3_ENST00000506209.1_Silent_p.L39L|NR1I3_ENST00000505005.1_Silent_p.L68L|NR1I3_ENST00000367981.3_Silent_p.L39L|NR1I3_ENST00000367982.4_Silent_p.L68L|NR1I3_ENST00000367980.2_Silent_p.L68L|NR1I3_ENST00000437437.2_Silent_p.L39L|NR1I3_ENST00000367979.2_Silent_p.L68L|NR1I3_ENST00000367984.4_Silent_p.L68L|NR1I3_ENST00000515452.1_Silent_p.L68L|NR1I3_ENST00000502985.1_Silent_p.L68L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	68					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)			AGCACTTCTGCAACCTGCAGG	0.532000													20	54					0	0	0.010504	0	0
GABRG2	2566	broad.mit.edu	37	5	161495008	161495008	+	Translation_Start_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:161495008G>T	ENST00000356592.3	+	1	463	c.3G>T	c.(1-3)atG>atT	p.M1I	GABRG2_ENST00000361925.4_Start_Codon_SNP_p.M1I|GABRG2_ENST00000414552.2_Start_Codon_SNP_p.M1I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	1					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAAAAGCGATGAGTTCGCCAA	0.453000													30	11					2.70662e-09	3.25672e-09	0.009535	1	0
OSBP2	23762	broad.mit.edu	37	22	31286744	31286744	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:31286744C>T	ENST00000332585.6	+	8	1757	c.1653C>T	c.(1651-1653)ctC>ctT	p.L551L	OSBP2_ENST00000446658.2_Silent_p.L550L|OSBP2_ENST00000403222.3_Silent_p.L385L|OSBP2_ENST00000407373.1_Silent_p.L378L|OSBP2_ENST00000535268.1_Silent_p.L95L|OSBP2_ENST00000382310.3_Silent_p.L502L|OSBP2_ENST00000437268.2_Silent_p.L293L|OSBP2_ENST00000401475.1_Silent_p.L184L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	551					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCATGCTCCAGCGGCTGA	0.627000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	24					0	0	0.003163	0	0
CREBBP	1387	broad.mit.edu	37	16	3778918	3778918	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3778918C>A	ENST00000262367.5	-	31	6939	c.6130G>T	c.(6130-6132)Gcc>Tcc	p.A2044S	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2006S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2044					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCGCCTGGGCCTGCATGGAT	0.706000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						14	12					4.36969e-10	5.36806e-10	0.001855	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73171755	73171755	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:73171755C>A	ENST00000286657.4	-	16	2245	c.2209G>T	c.(2209-2211)Ggg>Tgg	p.G737W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	737	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCTAGCCCCAGGGGGTATA	0.403000													15	63					0.000219431	0.000230403	0.002450	1	0
FJX1	24147	broad.mit.edu	37	11	35641145	35641145	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:35641145C>T	ENST00000317811.4	+	1	1411	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	321						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGTCATGCAGCGTGCCACCAG	0.627000													21	47					0	0	0.010504	0	0
SLC9A3	6550	broad.mit.edu	37	5	477530	477530	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:477530G>A	ENST00000264938.3	-	11	1686	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I550I|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	559						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGGGGGAGCGGATGAAGGCCA	0.647000													15	89					0	0	0.004007	0	0
LECT1	11061	broad.mit.edu	37	13	53313268	53313268	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:53313268C>T	ENST00000448904.2	-	2	221	c.111G>A	c.(109-111)gcG>gcA	p.A37A	LECT1_ENST00000377962.3_Silent_p.A37A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	37					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGAGCAGCCGCGCGGGGCTGG	0.697000													14	26					0	0	0.002450	0	0
MMRN2	79812	broad.mit.edu	37	10	88702633	88702633	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:88702633C>G	ENST00000372027.4	-	6	1981	c.1908G>C	c.(1906-1908)caG>caC	p.Q636H		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	636						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCACGCGGATCTGCTCGTAGC	0.736000													3	12					0	0	0.004672	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313773	41313773	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:41313773G>T	ENST00000377801.3	-	3	986	c.912C>A	c.(910-912)atC>atA	p.I304I	PLCXD3_ENST00000328457.3_Silent_p.I304I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	304					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGACAGTGCTGATAAAGTCAC	0.453000													53	56					1.83081e-24	2.91098e-24	0.014410	1	0
MYT1	4661	broad.mit.edu	37	20	62839222	62839222	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:62839222G>T	ENST00000536311.1	+	7	1037	c.673G>T	c.(673-675)Gtc>Ttc	p.V225F	MYT1_ENST00000328439.1_Missense_Mutation_p.V225F|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	225	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGGAGGTCGTCGAAGTCAC	0.617000													21	42					7.21436e-19	1.05375e-18	0.008871	1	0
REG3G	130120	broad.mit.edu	37	2	79255031	79255031	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:79255031C>A	ENST00000272324.5	+	5	616	c.432C>A	c.(430-432)ggC>ggA	p.G144G	REG3G_ENST00000393897.2_Silent_p.G144G|REG3G_ENST00000409471.1_Silent_p.G98G	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	144	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAAACCCTGGCCACTGTGGGA	0.502000													27	80					2.50493e-22	3.85081e-22	0.004656	1	0
ABRA	137735	broad.mit.edu	37	8	107782449	107782449	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:107782449C>A	ENST00000311955.3	-	0	24					NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein						positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGCTGATAGCCTGGACACTGG	0.572000													9	51					0.00621372	0.00634483	0.006214	1	0
HCN1	348980	broad.mit.edu	37	5	45303720	45303720	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:45303720T>C	ENST00000303230.4	-	6	1656	c.1599A>G	c.(1597-1599)acA>acG	p.T533T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	533						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						AAGAGCCATCTGTCAGCTTCA	0.353000													83	44					0	0	0.014410	0	0
CPXM1	56265	broad.mit.edu	37	20	2774935	2774935	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:2774935C>G	ENST00000380605.2	-	14	2170	c.2106G>C	c.(2104-2106)aaG>aaC	p.K702N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	702					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTTTGGGAGTCTTGGTGAGCA	0.617000													45	45					0	0	0.010771	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737739	62737739	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:62737739G>T	ENST00000369768.1	-	1	785	c.446C>A	c.(445-447)aCc>aAc	p.T149N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	149						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGACCTCACGGTGGCCAGCAC	0.637000													12	32					2.27111e-07	2.58197e-07	0.013537	1	0
SERPINB3	6317	broad.mit.edu	37	18	61326722	61326722	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:61326722G>T	ENST00000283752.5	-	4	405	c.262C>A	c.(262-264)Ctt>Att	p.L88I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L88I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	88					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCAGTCAGAAGCTTTTGAAAC	0.363000													35	29					3.21399e-22	4.92724e-22	0.004878	1	0
KIRREL2	84063	broad.mit.edu	37	19	36351918	36351918	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:36351918A>G	ENST00000360202.5	+	8	1234	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	KIRREL2_ENST00000592409.1_Missense_Mutation_p.T346A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.T326A|KIRREL2_ENST00000347900.6_Missense_Mutation_p.T296A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.T346A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	346	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTAACCTGGACCCGCCGCGG	0.662000													34	6					0	0	0.010818	0	0
PRDX3	10935	broad.mit.edu	37	10	120936610	120936610	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:120936610C>A	ENST00000298510.2	-	2	134	c.92G>T	c.(91-93)aGg>aTg	p.R31M	PRDX3_ENST00000356951.3_Missense_Mutation_p.R31M	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	31				R -> W (in Ref. 8; AAH08435).	cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TGCAGCAGGCCTGAGGGCTGC	0.453000													20	22					3.99206e-14	5.41189e-14	0.007413	1	0
OPN5	221391	broad.mit.edu	37	6	47763237	47763237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:47763237G>T	ENST00000489301.2	+	4	779	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	OPN5_ENST00000393699.2_Nonsense_Mutation_p.E232*|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Nonsense_Mutation_p.E232*			Q6U736	OPN5_HUMAN	opsin 5	232					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCTTCCAAAGAAGTAGCTCA	0.433000													27	81					5.61819e-17	7.94542e-17	0.005443	1	0
SSH2	85464	broad.mit.edu	37	17	27994190	27994190	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:27994190C>T	ENST00000269033.3	-	9	931	c.780G>A	c.(778-780)gaG>gaA	p.E260E	SSH2_ENST00000540801.1_Silent_p.E287E|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	260					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCATCATGATCTCCCTTAATT	0.378000													6	36					0	0	0.001168	0	0
OLIG3	167826	broad.mit.edu	37	6	137815061	137815061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:137815061G>A	ENST00000367734.2	-	1	470	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGCCTCAACTGCTGTAGGTCC	0.622000													69	92					0	0	0.014410	0	0
FAM65A	79567	broad.mit.edu	37	16	67576305	67576305	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:67576305C>T	ENST00000540839.3	+	14	1896	c.1676C>T	c.(1675-1677)tCa>tTa	p.S559L	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000379312.3_Missense_Mutation_p.S543L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S539L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S559L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.S553L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	543	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCTGGCCCTTCAGAACTGCCA	0.557000													123	507					0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	16970194	16970194	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:16970194C>T	ENST00000377833.4	-	41	6298	c.6233G>A	c.(6232-6234)aGt>aAt	p.S2078N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2078	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGGTTACACTGGAGTCCGA	0.478000													29	23					0	0	0.009535	0	0
MAP4K1	11184	broad.mit.edu	37	19	39105076	39105076	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:39105076G>A	ENST00000591517.1	-	5	351	c.323C>T	c.(322-324)tCc>tTc	p.S108F	MAP4K1_ENST00000586296.1_Missense_Mutation_p.S108F|MAP4K1_ENST00000589130.1_Missense_Mutation_p.S104F|MAP4K1_ENST00000396857.2_Missense_Mutation_p.S108F	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	108	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCTGACAGGGAGCCTGTCAC	0.647000													50	175					0	0	0.014410	0	0
OC90	729330	broad.mit.edu	37	8	133036859	133036859	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:133036859C>T	ENST00000262283.5	-	18	2038	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	OC90_ENST00000254627.3_Missense_Mutation_p.A435T|OC90_ENST00000603859.1_Missense_Mutation_p.A435T|OC90_ENST00000443356.2_Missense_Mutation_p.A451T			Q02509	OC90_HUMAN	otoconin 90	451					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGGGTGGGGGCTGCGGGCACA	0.647000													4	40					0	0	0.014758	0	0
PITPNC1	26207	broad.mit.edu	37	17	65529066	65529066	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:65529066G>T	ENST00000580974.1	+	2	893	c.197_splice	c.e2+1	p.S66_splice	PITPNC1_ENST00000335257.6_Splice_Site_p.S66_splice|PITPNC1_ENST00000299954.9_Splice_Site_p.S66_splice|PITPNC1_ENST00000581322.1_Splice_Site_p.S66_splice	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	66					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TATCTCAACAGGTGAGTCATG	0.587000													3	14					0.004672	0.00477496	0.004672	1	0
OR11G2	390439	broad.mit.edu	37	14	20666414	20666414	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:20666414G>T	ENST00000357366.3	+	1	920	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		aatgaagctggaaagcagaag	0.453000													39	84					3.33393e-15	4.62677e-15	0.004878	1	0
VPS13A	23230	broad.mit.edu	37	9	79955413	79955413	+	Missense_Mutation	SNP	A	A	T	rs146400320	by1000genomes	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:79955413A>T	ENST00000360280.3	+	50	7233	c.6973A>T	c.(6973-6975)Ata>Tta	p.I2325L	VPS13A_ENST00000376634.4_Missense_Mutation_p.I2325L|VPS13A_ENST00000376636.3_Missense_Mutation_p.I2286L|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2325L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2325					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAATACCATATATCAGTGGC	0.333000													33	22					0	0	0.009535	0	0
ZNF616	90317	broad.mit.edu	37	19	52618238	52618238	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:52618238C>A	ENST00000600228.1	-	4	2440	c.2179G>T	c.(2179-2181)Ggg>Tgg	p.G727W	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AACAACCGCCCAAAGGCTTTG	0.403000													45	45					7.05121e-23	1.09304e-22	0.010771	1	0
TENM3	55714	broad.mit.edu	37	4	183714956	183714956	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:183714956G>A	ENST00000511685.1	+	26	7254	c.7131G>A	c.(7129-7131)aaG>aaA	p.K2377K	TENM3_ENST00000406950.2_Silent_p.K2377K					teneurin transmembrane protein 3																		GAATTGGGAAGGACCCAGCTC	0.403000													23	19					0	0	0.003330	0	0
ITGA7	3679	broad.mit.edu	37	12	56094137	56094137	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:56094137G>T	ENST00000257880.7	-	5	930	c.711C>A	c.(709-711)gaC>gaA	p.D237E	ITGA7_ENST00000394230.2_Missense_Mutation_p.D237E|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000555728.1_Missense_Mutation_p.D237E|ITGA7_ENST00000452168.2_Missense_Mutation_p.D140E|ITGA7_ENST00000553804.1_Missense_Mutation_p.D237E|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000347027.6_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	237					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGTGCCAGGTCCGCTGAGC	0.672000													28	57					6.07407e-21	9.16049e-21	0.007291	1	0
IRX1	79192	broad.mit.edu	37	5	3599649	3599649	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:3599649G>T	ENST00000302006.3	+	2	639	c.587G>T	c.(586-588)cGc>cTc	p.R196L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGGGAGCGCGCAGCAAGGAC	0.637000													30	175					3.73148e-12	4.85747e-12	0.007291	1	0
POU6F2	11281	broad.mit.edu	37	7	39379420	39379420	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:39379420G>A	ENST00000518318.2	+	5	733	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	POU6F2_ENST00000559001.1_Missense_Mutation_p.A223T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.A231T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	231	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gccaccacccgcctctcagca	0.682000													7	2					0	0	0.001984	0	0
DPYSL3	1809	broad.mit.edu	37	5	146780284	146780284	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:146780284G>T	ENST00000343218.5	-	10	1620	c.1423C>A	c.(1423-1425)Cgg>Agg	p.R475R	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Silent_p.R361R	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	361					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACATCCGCTCCTCCACA	0.567000													50	28					8.72198e-27	1.40894e-26	0.014410	1	0
NAV3	89795	broad.mit.edu	37	12	78513016	78513016	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:78513016G>T	ENST00000397909.2	+	15	3213		c.e15-1		NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							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						TCCTTAATTAGGGAAAACCGA	0.368000										HNSCC(70;0.22)			48	113					1.19451e-25	1.92123e-25	0.014410	1	0
NCDN	23154	broad.mit.edu	37	1	36026222	36026222	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:36026222A>T	ENST00000373243.2	+	3	853	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.Q140L|NCDN_ENST00000356090.4_Missense_Mutation_p.Q157L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	157					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACACCTACCAGTGCCTGACG	0.622000													79	61					0	0	0.014410	0	0
SEPT14	346288	broad.mit.edu	37	7	55874921	55874921	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:55874921T>A	ENST00000388975.3	-	8	964	c.848A>T	c.(847-849)aAg>aTg	p.K283M		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	283					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTCGGAGCTTAACGAAGTC	0.328000													26	26					0	0	0.005443	0	0
UNC5D	137970	broad.mit.edu	37	8	35406952	35406952	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:35406952G>T	ENST00000287272.2	+	2	266	c.246G>T	c.(244-246)caG>caT	p.Q82H	UNC5D_ENST00000420357.1_Missense_Mutation_p.Q82H|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q82H|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q82H|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q77H			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	82	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCATGCAGATATTCTTCA	0.517000													18	27					1.67942e-08	1.98217e-08	0.006122	1	0
APC	324	broad.mit.edu	37	5	112175364	112175364	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:112175364C>T	ENST00000457016.1	+	16	4453	c.4073C>T	c.(4072-4074)gCg>gTg	p.A1358V	APC_ENST00000508376.2_Missense_Mutation_p.A1358V|APC_ENST00000257430.4_Missense_Mutation_p.A1358V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1358	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1357fs*13(2)|p.A1358E(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTTCAGGAGCGAAATCTCCC	0.473000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			46	16					0	0	0.013114	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86067447	86067447	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:86067447C>G	ENST00000377332.3	-	7	1185	c.1077G>C	c.(1075-1077)gcG>gcC	p.A359A	ST3GAL5_ENST00000393805.1_Silent_p.A331A|ST3GAL5_ENST00000393808.3_Silent_p.A336A	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	359					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATCCAAAACCCGCCAAACTGA	0.448000													15	45					0	0	0.002450	0	0
WDFY3	23001	broad.mit.edu	37	4	85661484	85661484	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:85661484T>A	ENST00000322366.6	-	39	6727	c.6320A>T	c.(6319-6321)cAc>cTc	p.H2107L	WDFY3_ENST00000295888.4_Missense_Mutation_p.H2107L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2107						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACGGTTTTGTGTGCCCGTGA	0.463000													48	28					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126398441	126398441	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:126398441G>C	ENST00000394329.3	+	13	12438	c.12425G>C	c.(12424-12426)aGg>aCg	p.R4142T	FAT4_ENST00000335110.5_Missense_Mutation_p.R2405T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4142	Laminin G-like 1.				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						GTCAATGGAAGGCCTCTGGAA	0.413000													61	36					0	0	0.014410	0	0
ZXDA	7789	broad.mit.edu	37	X	57935121	57935121	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:57935121T>C	ENST00000358697.4	-	1	1946	c.1734A>G	c.(1732-1734)ctA>ctG	p.L578L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	578	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGCTGCTTCTAGCTGAGCTA	0.468000													38	94					0	0	0.014410	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601330	17601330	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:17601330G>T	ENST00000259963.3	+	1	745	c.690G>T	c.(688-690)ccG>ccT	p.P230P		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	230						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CGCGAAGCCCGAGCGAGACCG	0.687000													8	6					2.17888e-05	2.34308e-05	0.006214	1	0
PCDH17	27253	broad.mit.edu	37	13	58208637	58208637	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:58208637G>T	ENST00000377918.3	+	1	1983	c.1957G>T	c.(1957-1959)Gag>Tag	p.E653*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	653	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTTTCTGGGAGGACGTGAC	0.652000													36	135					2.1956e-27	3.56745e-27	0.004289	1	0
CSMD1	64478	broad.mit.edu	37	8	3045415	3045415	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:3045415C>A	ENST00000520002.1	-	37	6154	c.5599G>T	c.(5599-5601)Gca>Tca	p.A1867S	CSMD1_ENST00000537824.1_Missense_Mutation_p.A1866S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1867S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1866S|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1866S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1867S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1867S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1867	CUB 11.					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)		AGTCTGGGTGCGGTCACATCC	0.448000													8	15					0.00448238	0.00459382	0.004482	1	0
MYH8	4626	broad.mit.edu	37	17	10317709	10317709	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:10317709G>C	ENST00000403437.2	-	10	992	c.898C>G	c.(898-900)Cta>Gta	p.L300V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	300	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACCAATTAGATCTGGCTTC	0.328000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	8					0	0	0.007291	0	0
HEPHL1	341208	broad.mit.edu	37	11	93845019	93845019	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:93845019C>G	ENST00000315765.9	+	20	3447	c.3439C>G	c.(3439-3441)Cag>Gag	p.Q1147E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1147					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACAGATTACCAGCAAGTCCA	0.542000													90	84					0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857633	144857633	+	Missense_Mutation	SNP	G	G	T	rs3845154	by1000genomes	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:144857633G>T	ENST00000369359.4	-	42	6867	c.6829C>A	c.(6829-6831)Ccc>Acc	p.P2277T	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P2141T|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P2141T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P2035T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P2226T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2141					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGATTATGGGCGTTTCTGAG	0.478000			T	PDGFRB	MPD								124	362					1.85467e-57	3.28179e-57	0.014410	1	0
DBNL	28988	broad.mit.edu	37	7	44098477	44098477	+	Splice_Site	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:44098477G>C	ENST00000468694.1	+	9	784	c.756_splice	c.e9-1	p.G253_splice	DBNL_ENST00000456905.1_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000448521.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000497184.1_Intron|DBNL_ENST00000494774.1_Intron|DBNL_ENST00000490734.2_Intron	NM_001122956.1	NP_001116428.1	Q9UJU6	DBNL_HUMAN	drebrin-like	250					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CCCACTGCAGGGGTCAACATG	0.602000													16	17					0	0	0.003163	0	0
OR10A5	144124	broad.mit.edu	37	11	6867304	6867304	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:6867304T>A	ENST00000299454.4	+	1	422	c.391T>A	c.(391-393)Ttg>Atg	p.L131M	OR10A5_ENST00000379831.2_Missense_Mutation_p.L135M			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCAGTCCCTTGCACTACCC	0.527000													45	114					0	0	0.014410	0	0
SEPT10	151011	broad.mit.edu	37	2	110301795	110301795	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:110301795A>C	ENST00000356688.4	-	12	1854	c.1539T>G	c.(1537-1539)tgT>tgG	p.C513W	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AAGTGATAAAACAAATAACAG	0.318000													21	13					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9000495	9000495	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:9000495G>T	ENST00000397910.4	-	54	40692	c.40489C>A	c.(40489-40491)Cat>Aat	p.H13497N	MUC16_ENST00000380951.5_Missense_Mutation_p.H138N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13499	SEA 10.				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						CCAGGGTGATGCATGTTCTCC	0.483000													36	40					5.43694e-19	7.96225e-19	0.005524	1	0
SYNE1	23345	broad.mit.edu	37	6	152668194	152668194	+	Splice_Site	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:152668194C>G	ENST00000367255.5	-	73	12679	c.12078_splice	c.e73+1	p.R4026_splice	SYNE1_ENST00000265368.4_Splice_Site_p.R4026_splice|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Splice_Site_p.R3955_splice|SYNE1_ENST00000448038.1_Splice_Site_p.R3955_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4026					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCACTCACCCTCTGAGCTG	0.483000										HNSCC(10;0.0054)			29	14					0	0	0.009535	0	0
SLC8A1	6546	broad.mit.edu	37	2	40387940	40387940	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:40387940C>A	ENST00000406785.1	-	6	2315	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R745I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R709I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R709I|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R737I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R709I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R740I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R740I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R745I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R709I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	745					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAACTGTTCTCTCCAGCTGTT	0.398000													21	56					9.86323e-18	1.40921e-17	0.003954	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432734	104432734	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:104432734C>A	ENST00000361820.3	-	3	2560	c.1960G>T	c.(1960-1962)Ggc>Tgc	p.G654C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	654					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTAAGATGCCCAAGCTGGTG	0.537000													58	35					5.73332e-34	9.68313e-34	0.014410	1	0
CACNA1F	778	broad.mit.edu	37	X	49067057	49067057	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:49067057G>T	ENST00000376265.2	-	38	4572	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1493D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1439D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1504					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GACCTTGCAGGCCACTCGGTG	0.607000													11	17					6.40141e-05	6.85074e-05	0.010729	1	0
MYO10	4651	broad.mit.edu	37	5	16668542	16668542	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:16668542C>T	ENST00000513610.1	-	40	6373	c.5919G>A	c.(5917-5919)ttG>ttA	p.L1973L	MYO10_ENST00000505695.1_Silent_p.L1312L|MYO10_ENST00000427430.2_Silent_p.L1330L|MYO10_ENST00000274203.9_Silent_p.L1330L|MYO10_ENST00000515803.1_Silent_p.L1312L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1973	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCTGACACCCAACCAGAGTT	0.537000													8	131					0	0	0.003080	0	0
UNC5D	137970	broad.mit.edu	37	8	35583795	35583795	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:35583795C>A	ENST00000287272.2	+	9	1242	c.1222C>A	c.(1222-1224)Cct>Act	p.P408T	UNC5D_ENST00000420357.1_Missense_Mutation_p.P410T|UNC5D_ENST00000449677.1_Missense_Mutation_p.P53T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P482T|UNC5D_ENST00000404895.2_Missense_Mutation_p.P477T|UNC5D_ENST00000453357.2_Missense_Mutation_p.P472T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	477					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCTTTAACCCTTTGTCGGA	0.522000													19	26					2.5808e-16	3.63598e-16	0.006122	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5303853	5303853	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:5303853C>A	ENST00000274181.7	+	20	3298	c.3160C>A	c.(3160-3162)Cag>Aag	p.Q1054K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1054	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAAGAAGCTGCAGTGGCTGGT	0.632000													14	103					2.48551e-13	3.30905e-13	0.004990	1	0
SERPINB4	6318	broad.mit.edu	37	18	61309119	61309119	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:61309119C>T	ENST00000341074.5	-	4	341	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D76N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CCTGACCTATCAACCTTCAAA	0.393000													37	20					0	0	0.010771	0	0
ZNF41	7592	broad.mit.edu	37	X	47307811	47307811	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47307811T>A	ENST00000377065.4	-	5	1997	c.1358A>T	c.(1357-1359)cAt>cTt	p.H453L	ZNF41_ENST00000397050.2_Missense_Mutation_p.H463L|ZNF41_ENST00000313116.7_Missense_Mutation_p.H453L	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	495						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGTTGAAATGTGATTTCTG	0.438000													24	58					0	0	0.014323	0	0
RGS7	6000	broad.mit.edu	37	1	240975331	240975331	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:240975331G>T	ENST00000366565.1	-	14	1350	c.969C>A	c.(967-969)agC>agA	p.S323R	RGS7_ENST00000446183.2_Missense_Mutation_p.S239R|RGS7_ENST00000348120.2_Missense_Mutation_p.S270R|RGS7_ENST00000366563.1_Missense_Mutation_p.S323R|RGS7_ENST00000401882.1_Missense_Mutation_p.S270R|RGS7_ENST00000366564.1_Missense_Mutation_p.S323R|RGS7_ENST00000331110.7_Missense_Mutation_p.S297R|RGS7_ENST00000366562.4_Missense_Mutation_p.S323R|RGS7_ENST00000407727.1_Missense_Mutation_p.S323R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	323					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCTCTGCTGGCTCGGTTCTT	0.393000													24	48					4.26978e-12	5.54523e-12	0.003330	1	0
KIAA0430	9665	broad.mit.edu	37	16	15695879	15695879	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:15695879C>A	ENST00000396368.3	-	23	4801	c.4595G>T	c.(4594-4596)aGc>aTc	p.S1532I	KIAA0430_ENST00000344181.3_Missense_Mutation_p.S1215I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S1529I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S1532I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S1529I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S1367I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1531						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTCCTCCACGCTGCTGTGGCC	0.507000													38	90					5.43694e-19	7.96225e-19	0.005524	1	0
IL27	246778	broad.mit.edu	37	16	28518121	28518121	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:28518121C>A	ENST00000356897.1	-	1	34	c.12G>T	c.(10-12)acG>acT	p.T4T		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	4					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTCGCCTGCCGTCTGGCCCA	0.637000													17	37					7.07596e-05	7.5581e-05	0.006122	1	0
TNS3	64759	broad.mit.edu	37	7	47342884	47342884	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:47342884G>A	ENST00000398879.1	-	22	3487	c.3121C>T	c.(3121-3123)Ctg>Ttg	p.L1041L	TNS3_ENST00000355730.3_Silent_p.L801L|TNS3_ENST00000311160.9_Silent_p.L1041L			Q68CZ2	TENS3_HUMAN	tensin 3	1041						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GAATTGGCCAGCAAGGCCCCC	0.677000													6	25					0	0	0.001168	0	0
MALAT1	378938	broad.mit.edu	37	11	65271209	65271209	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:65271209C>T	ENST00000534336.1	+	0	5977					NR_002819.2																						GAAACTTTGTCTGCGAACACT	0.378000													6	42					0	0	0.003080	0	0
TEC	7006	broad.mit.edu	37	4	48169819	48169819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:48169819C>T	ENST00000381501.3	-	7	804	c.647G>A	c.(646-648)tGg>tAg	p.W216*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	216	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGCTCTCCACCAATGAACATC	0.413000													26	82					0	0	0.004656	0	0
IRX2	153572	broad.mit.edu	37	5	2749643	2749643	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:2749643G>T	ENST00000382611.6	-	2	756	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.R170R	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TTGAGGCGCCGGCGCGCGTTG	0.597000													30	350					5.09552e-08	5.93234e-08	0.010818	1	0
WDR6	11180	broad.mit.edu	37	3	49049783	49049783	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:49049783C>T	ENST00000395474.3	+	2	1186	c.906C>T	c.(904-906)atC>atT	p.I302I	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.I221I|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	272					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)		ATTACCTTATCAGTGCAGGAG	0.592000													29	57					0	0	0.006320	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841555	8841555	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:8841555C>A	ENST00000324060.2	+	1	240	c.165C>A	c.(163-165)ctC>ctA	p.L55L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCCCGGCTCCATACACCCA	0.557000													78	50					7.427e-35	1.26202e-34	0.014410	1	0
OR4S2	219431	broad.mit.edu	37	11	55418547	55418547	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55418547C>G	ENST00000312422.2	+	1	168	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTAAGTCACCCATGTATTTCT	0.393000													27	23					0	0	0.006320	0	0
PDE6C	5146	broad.mit.edu	37	10	95395261	95395261	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:95395261C>T	ENST00000371447.3	+	10	1415	c.1277C>T	c.(1276-1278)aCa>aTa	p.T426I		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	426	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAGACTCTCACACAATTTCTT	0.373000													25	35					0	0	0.003330	0	0
NLRP3	114548	broad.mit.edu	37	1	247586622	247586622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:247586622C>A	ENST00000366497.2	+	3	1154	c.374C>A	c.(373-375)tCg>tAg	p.S125*	NLRP3_ENST00000348069.2_Nonsense_Mutation_p.S125*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.S125*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.S125*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.S125*|NLRP3_ENST00000336119.3_Nonsense_Mutation_p.S125*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	125					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGTACCTTTCGAGAATCTCT	0.458000													68	102					2.05175e-36	3.51865e-36	0.014410	1	0
MAN2B1	4125	broad.mit.edu	37	19	12760786	12760786	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:12760786C>A	ENST00000456935.2	-	18	2248	c.2208G>T	c.(2206-2208)ccG>ccT	p.P736P	MAN2B1_ENST00000221363.4_Silent_p.P735P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	736					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTCTCCAGCGGTGTGTCAA	0.587000													127	72					2.82259e-58	5.01044e-58	0.014410	1	0
AHCTF1	25909	broad.mit.edu	37	1	247076619	247076619	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:247076619A>T	ENST00000366508.1	-	4	712	c.576T>A	c.(574-576)gcT>gcA	p.A192A	AHCTF1_ENST00000326225.3_Silent_p.A166A|AHCTF1_ENST00000391829.2_Silent_p.A157A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	157	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAGTGACCACAGCTGCCACTC	0.418000													10	44					0	0	0.006214	0	0
NDST4	64579	broad.mit.edu	37	4	115997368	115997368	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:115997368C>G	ENST00000264363.2	-	2	1503	c.825G>C	c.(823-825)ttG>ttC	p.L275F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	275	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCCAAAAGTTCAAGTTGTTGC	0.453000													20	52					0	0	0.008871	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956500	96956500	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:96956500T>C	ENST00000323853.5	-	19	2552	c.2475A>G	c.(2473-2475)acA>acG	p.T825T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	825	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGATGATGACTGTATGTGCAG	0.488000													38	151					0	0	0.003755	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457564	5457564	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:5457564A>C	ENST00000296564.7	+	12	1033	c.811A>C	c.(811-813)Atg>Ctg	p.M271L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	271										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACTGTCCATGGAGATAAA	0.458000													13	62					0	0	0.001855	0	0
MID1	4281	broad.mit.edu	37	X	10535481	10535481	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:10535481C>A	ENST00000317552.4	-	2	507	c.107G>T	c.(106-108)cGc>cTc	p.R36L	MID1_ENST00000453318.2_Missense_Mutation_p.R36L|MID1_ENST00000380785.1_Missense_Mutation_p.R36L|MID1_ENST00000380782.2_Missense_Mutation_p.R36L|MID1_ENST00000380779.1_Missense_Mutation_p.R36L|MID1_ENST00000380787.1_Missense_Mutation_p.R36L|MID1_ENST00000380780.1_Missense_Mutation_p.R36L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	36					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TACTAGGATGCGGTGGGCGCA	0.587000													35	97					1.62565e-12	2.13618e-12	0.012213	1	0
LAMA4	3910	broad.mit.edu	37	6	112439022	112439022	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:112439022G>A	ENST00000230538.7	-	35	5298	c.4901C>T	c.(4900-4902)aCa>aTa	p.T1634I	LAMA4_ENST00000424408.2_Missense_Mutation_p.T1627I|LAMA4_ENST00000522006.1_Missense_Mutation_p.T1627I|LAMA4_ENST00000389463.4_Missense_Mutation_p.T1627I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1634	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACACTGAATGTCTGAGAAGC	0.443000													39	47					0	0	0.004878	0	0
SEMA5A	9037	broad.mit.edu	37	5	9054240	9054240	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:9054240A>T	ENST00000382496.5	-	19	3313	c.2648T>A	c.(2647-2649)cTg>cAg	p.L883Q		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	883	TSP type-1 6.				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						TTCTGTGTGCAGCCCCAGGCA	0.567000													59	129					0	0	0.014410	0	0
SORCS1	114815	broad.mit.edu	37	10	108469029	108469029	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:108469029G>A	ENST00000263054.6	-	7	1102	c.1095C>T	c.(1093-1095)taC>taT	p.Y365Y	SORCS1_ENST00000344440.6_Silent_p.Y365Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	365						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGGTCAATGTAGCCTGGAA	0.378000													4	26					0	0	0.014758	0	0
OR5K1	26339	broad.mit.edu	37	3	98188956	98188956	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:98188956G>T	ENST00000332650.5	+	1	633	c.536G>T	c.(535-537)tGt>tTt	p.C179F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACTTTTACTGTGATATTCTT	0.393000													79	50					1.38806e-43	2.4177e-43	0.014410	1	0
HRNR	388697	broad.mit.edu	37	1	152193687	152193687	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:152193687A>C	ENST00000368801.2	-	3	493	c.418T>G	c.(418-420)Tat>Gat	p.Y140D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	140					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGGAATAGGAATCATTC	0.423000													39	111					0	0	0.009718	0	0
TM6SF1	53346	broad.mit.edu	37	15	83776517	83776517	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:83776517C>A	ENST00000322019.9	+	1	359	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	TM6SF1_ENST00000565774.1_Missense_Mutation_p.Q29K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.Q29K|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.Q29K			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	29						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGCGGCCCAGCATGAGTG	0.726000													10	16					0.000673444	0.000700508	0.008291	1	0
PTPRR	5801	broad.mit.edu	37	12	71286482	71286482	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:71286482G>T	ENST00000283228.2	-	2	786	c.334C>A	c.(334-336)Cca>Aca	p.P112T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	112					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTTGCTGCTGGGATTGGGAGA	0.423000													59	95					1.55545e-33	2.62305e-33	0.014410	1	0
PGM5	5239	broad.mit.edu	37	9	71094399	71094399	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:71094399G>T	ENST00000396396.1	+	8	1454	c.1225G>T	c.(1225-1227)Gcc>Tcc	p.A409S		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	409					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CATTATTGCTGCCCGGAAGCA	0.522000													59	42					2.40265e-35	4.10776e-35	0.014410	1	0
LPHN3	23284	broad.mit.edu	37	4	62845295	62845295	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:62845295C>A	ENST00000512091.1	+	17	3363	c.2616C>A	c.(2614-2616)gtC>gtA	p.V872V	LPHN3_ENST00000511324.1_Silent_p.V940V|LPHN3_ENST00000508946.1_Silent_p.V872V|LPHN3_ENST00000508693.1_Silent_p.V940V|LPHN3_ENST00000514157.1_Silent_p.V872V|LPHN3_ENST00000506720.1_Silent_p.V940V|LPHN3_ENST00000507625.1_Silent_p.V940V|LPHN3_ENST00000506746.1_Silent_p.V940V|LPHN3_ENST00000506700.1_Silent_p.V872V|LPHN3_ENST00000509896.1_Silent_p.V940V|LPHN3_ENST00000545650.1_Silent_p.V872V|LPHN3_ENST00000514996.1_Silent_p.V872V|LPHN3_ENST00000507164.1_Silent_p.V940V|LPHN3_ENST00000514591.1_Silent_p.V872V|LPHN3_ENST00000504896.1_Silent_p.V872V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	859					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGATGCGGTCCATGACCTCC	0.448000													136	89					6.28846e-85	1.12888e-84	0.014410	1	0
MGAT3	4248	broad.mit.edu	37	22	39883362	39883362	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:39883362A>T	ENST00000341184.6	+	2	225	c.10A>T	c.(10-12)Aga>Tga	p.R4*		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	4					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GATGAAGATGAGACGCTACAA	0.567000													52	113					0	0	0.014410	0	0
E2F7	144455	broad.mit.edu	37	12	77417888	77417888	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:77417888T>C	ENST00000322886.7	-	13	2878	c.2643A>G	c.(2641-2643)ggA>ggG	p.G881G	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	881					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGACAGGGTCTCCAAGGCTGC	0.527000													74	81					0	0	0.014410	0	0
ESCO2	157570	broad.mit.edu	37	8	27660857	27660857	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:27660857G>T	ENST00000305188.8	+	11	1946	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ESCO2_ENST00000397418.2_Missense_Mutation_p.D218Y	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	570					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTCAGCACTGATGAAATAGC	0.343000									SC Phocomelia syndrome				19	24					4.35082e-09	5.20135e-09	0.010504	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531635	140531635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140531635G>T	ENST00000231136.1	+	1	1797	c.1797G>T	c.(1795-1797)tgG>tgT	p.W599C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.W463C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACGCCTGGCTGTCGTACC	0.721000													76	45					1.2711e-46	2.22094e-46	0.014410	1	0
MPRIP	23164	broad.mit.edu	37	17	17053523	17053523	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:17053523G>A	ENST00000395811.5	+	12	1430	c.1341G>A	c.(1339-1341)caG>caA	p.Q447Q	MPRIP_ENST00000444976.1_Silent_p.Q409Q|MPRIP_ENST00000395804.3_Silent_p.Q447Q|MPRIP_ENST00000341712.4_Silent_p.Q447Q	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	447	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATCCAGTTCAGAGAAACTATG	0.502000													128	35					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423738	25423738	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:25423738C>T	ENST00000441592.2	+	0	309																											ACCGCTGGCCCCAGGCCAGTG	0.612000													32	45					0	0	0.008361	0	0
FADS2	9415	broad.mit.edu	37	11	61630533	61630533	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:61630533C>A	ENST00000278840.4	+	8	1602	c.972C>A	c.(970-972)aaC>aaA	p.N324K	FADS2_ENST00000522056.1_Missense_Mutation_p.N293K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K|FADS2_ENST00000257261.6_Missense_Mutation_p.N302K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	324					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577000													20	55					4.96729e-08	5.7891e-08	0.008871	1	0
UBXN4	23190	broad.mit.edu	37	2	136519471	136519471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:136519471C>T	ENST00000272638.9	+	6	903	c.592C>T	c.(592-594)Cga>Tga	p.R198*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	198					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CCTCAACATCCGAGTGGAAAG	0.378000													10	42					0	0	0.010729	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114453880	114453880	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:114453880G>T	ENST00000369563.3	+	4	1112	c.666G>T	c.(664-666)gtG>gtT	p.V222V	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	222					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTCACAGTGGAGGAGAAGG	0.567000								Other identified genes with known or suspected DNA repair function					45	31					7.05121e-23	1.09304e-22	0.010771	1	0
FMN2	56776	broad.mit.edu	37	1	240255689	240255689	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:240255689C>A	ENST00000319653.9	+	1	510	c.280C>A	c.(280-282)Cgc>Agc	p.R94S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	94					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGCGGCTCCCGCGAAGATGT	0.622000													7	7					8.12818e-05	8.64056e-05	0.001984	1	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249373	71249373	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:71249373A>G	ENST00000398534.3	+	1	303	c.272A>G	c.(271-273)tAt>tGt	p.Y91C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	91	9 X 4 AA repeats of C-C-X-P.			Y -> C (in Ref. 3; AAQ62965).		extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGCAGCTGCTATAAGCCCTGC	0.642000													87	352					0	0	0.014410	0	0
TUBB	203068	broad.mit.edu	37	6	30691915	30691915	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:30691915G>C	ENST00000396389.1	+	4	1615	c.1022G>C	c.(1021-1023)cGt>cCt	p.R341P	TUBB_ENST00000396384.1_Missense_Mutation_p.R287P|TUBB_ENST00000327892.8_Missense_Mutation_p.R359P|TUBB_ENST00000330914.3_Missense_Mutation_p.R287P|TUBB_ENST00000435534.1_Missense_Mutation_p.R158P			P07437	TBB5_HUMAN	tubulin, beta class I	359					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	ATCCCACCTCGTGGCCTCAAG	0.532000													64	82					0	0	0.014410	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33959961	33959961	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:33959961G>C	ENST00000361328.3	+	8	2170	c.2017G>C	c.(2017-2019)Gat>Cat	p.D673H		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	673					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAAAATGAAGATGAAGGGCA	0.448000													38	22					0	0	0.006230	0	0
OXR1	55074	broad.mit.edu	37	8	107715304	107715304	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:107715304G>T	ENST00000445937.1	+	8	1107	c.846G>T	c.(844-846)aaG>aaT	p.K282N	OXR1_ENST00000497705.1_Missense_Mutation_p.K215N|OXR1_ENST00000517566.2_Missense_Mutation_p.K282N|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.K282N|OXR1_ENST00000442977.2_Missense_Mutation_p.K283N|OXR1_ENST00000312046.6_Missense_Mutation_p.K275N	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	283					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAATAAAGGAATCTTTAC	0.343000													7	27					1.06961e-07	1.23494e-07	0.003080	1	0
NFIA	4774	broad.mit.edu	37	1	61849027	61849027	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:61849027A>G	ENST00000403491.3	+	7	1549	c.1065A>G	c.(1063-1065)acA>acG	p.T355T	NFIA_ENST00000371184.2_Silent_p.T226T|NFIA_ENST00000371185.2_Silent_p.T333T|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371189.4_Silent_p.T400T|NFIA_ENST00000407417.3_Silent_p.T347T|NFIA_ENST00000371187.3_Silent_p.T355T|NFIA_ENST00000371191.1_Silent_p.T378T	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	355					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTGTCATTACAGGACCCAGAG	0.547000													99	52					0	0	0.014410	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530107	80530107	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:80530107G>T	ENST00000295057.3	-	2	1494	c.838C>A	c.(838-840)Ccg>Acg	p.P280T	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P280T|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	280						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGCAGGTGCGGCACGGTCTCG	0.592000										HNSCC(69;0.2)			15	34					2.62699e-14	3.58313e-14	0.003163	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99967980	99967980	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:99967980G>A	ENST00000298999.3	+	5	412	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E37K	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AGGTGATGAAGAAGAAAGCTG	0.443000													18	46					0	0	0.006122	0	0
KRT6C	286887	broad.mit.edu	37	12	52867507	52867507	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:52867507G>A	ENST00000252250.6	-	1	62	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	5	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGATGGTGGTGGATGTGCTGG	0.642000													34	51					0	0	0.008740	0	0
TANC2	26115	broad.mit.edu	37	17	61466858	61466858	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:61466858G>T	ENST00000424789.2	+	15	2786	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	TANC2_ENST00000389520.4_Missense_Mutation_p.A928S|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	928							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCTGCAGCAGCAGGGTACCT	0.537000													10	6					7.48243e-07	8.42057e-07	0.006214	1	0
COL5A1	1289	broad.mit.edu	37	9	137622312	137622312	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:137622312C>T	ENST00000371817.3	+	7	1569	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	385	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACACCTCCAACTCCTCCAATG	0.607000													54	23					0	0	0.014410	0	0
GRIK2	2898	broad.mit.edu	37	6	102074278	102074278	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:102074278G>T	ENST00000369138.1	+	3	797	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	GRIK2_ENST00000358361.3_Missense_Mutation_p.V103L|GRIK2_ENST00000369137.3_Missense_Mutation_p.V103L|GRIK2_ENST00000318991.6_Missense_Mutation_p.V103L|GRIK2_ENST00000413795.1_Missense_Mutation_p.V103L|GRIK2_ENST00000421544.1_Missense_Mutation_p.V103L|GRIK2_ENST00000369134.4_Missense_Mutation_p.V54L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	103					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCTCTTGGGGTGGCTGCCAT	0.507000													124	176					5.11096e-51	8.97239e-51	0.014410	1	0
ABCA8	10351	broad.mit.edu	37	17	66928587	66928587	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:66928587G>T	ENST00000269080.2	-	6	776	c.639C>A	c.(637-639)tcC>tcA	p.S213S	ABCA8_ENST00000586539.1_Silent_p.S213S|ABCA8_ENST00000430352.2_Silent_p.S213S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	213						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GACCAATGAAGGAATGCATCT	0.338000													29	44					1.06801e-11	1.37422e-11	0.009535	1	0
NES	10763	broad.mit.edu	37	1	156641772	156641772	+	Silent	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:156641772T>G	ENST00000368223.3	-	4	2340	c.2208A>C	c.(2206-2208)ctA>ctC	p.L736L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	736	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTGTTTCTAGAGGTCTCA	0.428000													21	87					0	0	0.010504	0	0
MECP2	4204	broad.mit.edu	37	X	153363093	153363093	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:153363093G>A	ENST00000453960.2	-	1	84	c.30C>T	c.(28-30)agC>agT	p.S10S	MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0			E -> Q (in RTT).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCTCCGCTCGGCgcgg	0.771000													9	10					0	0	0.006214	0	0
FAM65A	79567	broad.mit.edu	37	16	67576770	67576770	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:67576770C>G	ENST00000540839.3	+	14	2361	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	FAM65A_ENST00000379312.3_Nonsense_Mutation_p.S698*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.S694*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.S714*|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.S708*			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	698	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCCAAACACTCAGACCCCACC	0.577000													90	472					0	0	0.014410	0	0
CHMP7	91782	broad.mit.edu	37	8	23106757	23106757	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:23106757G>T	ENST00000397677.1	+	3	982	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	CHMP7_ENST00000313219.7_Missense_Mutation_p.A112S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	112					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGACTTCATGGCCAGTGTAGA	0.527000													17	41					1.67942e-08	1.98217e-08	0.006122	1	0
SLC38A5	92745	broad.mit.edu	37	X	48318237	48318237	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:48318237A>C	ENST00000376876.3	-	14	1937	c.1094T>G	c.(1093-1095)cTt>cGt	p.L365R	SLC38A5_ENST00000317669.5_Missense_Mutation_p.L365R|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.L314R			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	365					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCTGGGAAAAGCAGCTGCTG	0.577000													12	32					0	0	0.013537	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741279	140741279	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140741279G>A	ENST00000522605.1	+	1	1577	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGCTGCGCGCCTTCGAG	0.667000													52	23					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78225426	78225426	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:78225426G>T	ENST00000397909.2	+	1	358	c.185G>T	c.(184-186)tGt>tTt	p.C62F	NAV3_ENST00000228327.6_Missense_Mutation_p.C62F|NAV3_ENST00000266692.7_Missense_Mutation_p.C62F|NAV3_ENST00000536525.2_Missense_Mutation_p.C62F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	62						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						AAATCAACCTGTGAATTTGGA	0.443000										HNSCC(70;0.22)			40	56					7.04047e-22	1.0705e-21	0.005524	1	0
CAPN6	827	broad.mit.edu	37	X	110492209	110492209	+	Missense_Mutation	SNP	C	C	T	rs139917382	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:110492209C>T	ENST00000324068.1	-	9	1402	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	CAPN6_ENST00000541758.1_Missense_Mutation_p.R157Q	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	412	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCTTCCCATTCGGCGGTAAGT	0.468000													38	49					0	0	0.005524	0	0
LILRA5	353514	broad.mit.edu	37	19	54822948	54822948	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:54822948G>C	ENST00000301219.3	-	5	567	c.448C>G	c.(448-450)Cct>Gct	p.P150A	LILRA5_ENST00000346508.3_Missense_Mutation_p.P138A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.P138A|LILRA5_ENST00000432233.3_Missense_Mutation_p.P150A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	150	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACCACAGGACTGGGCAGG	0.572000													68	31					0	0	0.014410	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594224	100594224	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:100594224C>G	ENST00000268070.4	-	16	2278	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	725	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATCTTCCAGTCACTGTTGATG	0.532000													71	153					0	0	0.014410	0	0
XCL1	6375	broad.mit.edu	37	1	168550404	168550404	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:168550404C>A	ENST00000367818.3	+	3	456	c.291C>A	c.(289-291)acC>acA	p.T97T		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	97					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGATCCAGACCAAGCCAACAG	0.527000													25	51					9.57634e-11	1.1949e-10	0.003330	1	0
UBE2O	63893	broad.mit.edu	37	17	74387492	74387492	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:74387492C>A	ENST00000319380.7	-	18	3475	c.3411G>T	c.(3409-3411)cgG>cgT	p.R1137R		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1137							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGTTCACCAGCCGCCAGCCAC	0.657000													21	81					3.51602e-12	4.58772e-12	0.008871	1	0
SAMD3	154075	broad.mit.edu	37	6	130467243	130467243	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:130467243T>A	ENST00000368134.2	-	12	1715	c.1107A>T	c.(1105-1107)atA>atT	p.I369I	SAMD3_ENST00000439090.2_Silent_p.I369I|SAMD3_ENST00000437477.2_Silent_p.I369I|SAMD3_ENST00000457563.2_Silent_p.I393I	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	369										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGAAGTCAGTATATTTTCTG	0.308000													13	42					0	0	0.001855	0	0
TCF25	22980	broad.mit.edu	37	16	89940102	89940102	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:89940102G>T	ENST00000263346.8	+	1	83	c.27G>T	c.(25-27)ctG>ctT	p.L9L		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	9					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAGGCTGAGGGGGGAAC	0.682000													16	24					5.03518e-11	6.35392e-11	0.007413	1	0
POU4F1	5457	broad.mit.edu	37	13	79177360	79177360	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:79177360C>A	ENST00000377208.5	-	1	313	c.102G>T	c.(100-102)cgG>cgT	p.R34R	RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	34					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCAGGCAGGCCCGCCGGATGG	0.711000													14	29					0.000151284	0.000160057	0.001855	1	0
HS1BP3	64342	broad.mit.edu	37	2	20823688	20823688	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:20823688G>A	ENST00000304031.3	-	6	913	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	296					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGTGGCTGAGGCTGGGTG	0.647000													7	23					0	0	0.001984	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958140	122958140	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:122958140C>T	ENST00000543897.1	-	12	3669	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	ZCCHC8_ENST00000536306.1_Silent_p.E438E|ZCCHC8_ENST00000336229.4_Silent_p.E676E|ZCCHC8_ENST00000538116.1_Silent_p.E287E			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	676						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTGCCATATTCTCAAATTCAA	0.423000													39	173					0	0	0.005524	0	0
TRIM26	7726	broad.mit.edu	37	6	30153984	30153984	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:30153984T>A	ENST00000454678.2	-	10	1725	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	TRIM26_ENST00000453195.1_Missense_Mutation_p.E430V|TRIM26_ENST00000437089.1_Missense_Mutation_p.E430V	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	430	B30.2/SPRY.|Poly-Glu.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						AACTtcctcctcttcctcctc	0.582000													4	5					0	0	0.014758	0	0
OR5I1	10798	broad.mit.edu	37	11	55703191	55703191	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55703191T>A	ENST00000301532.3	-	1	685	c.686A>T	c.(685-687)aAg>aTg	p.K229M		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGAGCGGATCTTTAAGACTGA	0.428000													3	16					0	0	0.004672	0	0
BPIFC	254240	broad.mit.edu	37	22	32829734	32829734	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:32829734G>A	ENST00000397452.1	-	10	1060	c.950C>T	c.(949-951)tCt>tTt	p.S317F	BPIFC_ENST00000534972.1_Missense_Mutation_p.S41F|BPIFC_ENST00000300399.3_Missense_Mutation_p.S317F|BPIFC_ENST00000432451.2_Missense_Mutation_p.S131F			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	317						extracellular region	lipopolysaccharide binding|phospholipid binding										AAGGCCTTGAGAGTTTTGAAC	0.428000													7	29					0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12378229	12378229	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:12378229C>T	ENST00000358136.3	+	31	7379	c.7249C>T	c.(7249-7251)Ccc>Tcc	p.P2417S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P2417S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2417					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)		TCTCCACACTCCCAGTGATAT	0.418000													31	89					0	0	0.009535	0	0
ASTN1	460	broad.mit.edu	37	1	176845766	176845766	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:176845766G>T	ENST00000367654.2	-	21	3407	c.3394C>A	c.(3394-3396)Ctg>Atg	p.L1132M	ASTN1_ENST00000367657.3_Missense_Mutation_p.L1124M|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1124M|ASTN1_ENST00000424564.2_Missense_Mutation_p.L1124M			O14525	ASTN1_HUMAN	astrotactin 1	1132	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTCCCCACAGCGTGAACCTG	0.597000													11	26					7.93312e-07	8.90077e-07	0.002450	1	0
SLC35F5	80255	broad.mit.edu	37	2	114500281	114500281	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:114500281A>G	ENST00000245680.2	-	7	1151	c.738T>C	c.(736-738)ttT>ttC	p.F246F	SLC35F5_ENST00000409342.1_Silent_p.F240F	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	246					transport	integral to membrane		p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAAAGCAAAAAAAAAAGCTAA	0.338000													44	42					0	0	0.011902	0	0
MED12	9968	broad.mit.edu	37	X	70343476	70343476	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:70343476G>C	ENST00000333646.6	+	12	1849	c.1650G>C	c.(1648-1650)aaG>aaC	p.K550N	MED12_ENST00000374102.1_Missense_Mutation_p.K550N|MED12_ENST00000374080.3_Missense_Mutation_p.K550N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	550					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.K550K(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGATGAGAAGGGTTCCATCG	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	14					0	0	0.008291	0	0
ZEB2	9839	broad.mit.edu	37	2	145161590	145161590	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:145161590G>T	ENST00000558170.2	-	6	1884	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ZEB2_ENST00000409487.3_Missense_Mutation_p.H234N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H234N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H210N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	234						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCTTCTCGTGGCGGTACTTG	0.557000													75	77					1.15098e-32	1.93218e-32	0.014410	1	0
TCERG1L	256536	broad.mit.edu	37	10	132965084	132965084	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:132965084G>T	ENST00000368642.4	-	5	1006	c.921C>A	c.(919-921)agC>agA	p.S307R		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	307										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCCATCCCGGCTCTTCTGGG	0.572000													13	19					9.31168e-06	1.01111e-05	0.001855	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167448	140167448	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140167448C>A	ENST00000504120.2	+	1	1573	c.1573C>A	c.(1573-1575)Cac>Aac	p.H525N	PCDHA1_ENST00000378133.3_Missense_Mutation_p.H525N|PCDHA1_ENST00000394633.3_Missense_Mutation_p.H525N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCTGGACCACGAGGAGCT	0.677000													96	53					2.28585e-32	3.82005e-32	0.014410	1	0
USH1C	10083	broad.mit.edu	37	11	17522697	17522697	+	Splice_Site	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:17522697C>G	ENST00000005226.7	-	23	2280	c.2280_splice	c.e23-1	p.E761_splice	USH1C_ENST00000527720.1_Splice_Site_p.E430_splice|USH1C_ENST00000527020.1_Splice_Site_p.E442_splice|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000318024.4_Splice_Site_p.E461_splice	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	461					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AAGGATCCCTCCTGGTTAGAG	0.587000													8	11					0	0	0.003080	0	0
ARSB	411	broad.mit.edu	37	5	78076396	78076396	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:78076396C>T	ENST00000264914.4	-	8	1962	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	476					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CGATCAATATCAAAGAGCCAG	0.483000													24	17					0	0	0.014323	0	0
DTX1	1840	broad.mit.edu	37	12	113531399	113531399	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:113531399C>T	ENST00000257600.3	+	4	1562	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	353	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A353A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGACGCGGGCCCCCAAGCCCA	0.716000													16	33					0	0	0.004007	0	0
APC2	10297	broad.mit.edu	37	19	1470032	1470032	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:1470032C>T	ENST00000535453.1	+	14	8445	c.6732C>T	c.(6730-6732)ttC>ttT	p.F2244F	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.F1970F|APC2_ENST00000233607.2_Silent_p.F2244F			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	2244					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACCCTTCGTGCACGAGG	0.761000													6	10					0	0	0.001168	0	0
VDAC2	7417	broad.mit.edu	37	10	76990703	76990703	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:76990703G>T	ENST00000535553.1	+	11	1080	c.724G>T	c.(724-726)Gct>Tct	p.A242S	VDAC2_ENST00000543351.1_Missense_Mutation_p.A281S|VDAC2_ENST00000332211.6_Missense_Mutation_p.A281S|VDAC2_ENST00000313132.4_Missense_Mutation_p.A296S			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	281						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GAGCATTAATGCTGGAGGCCA	0.438000											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					3.07112e-06	3.38096e-06	0.010729	1	0
TRAIP	10293	broad.mit.edu	37	3	49866574	49866574	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:49866574G>C	ENST00000331456.2	-	15	1485	c.1372C>G	c.(1372-1374)Ctc>Gtc	p.L458V		NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	458	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTGGAAGAGAGAAGGCACT	0.537000													43	54					0	0	0.007835	0	0
ATG2B	55102	broad.mit.edu	37	14	96794780	96794780	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:96794780C>A	ENST00000359933.4	-	14	2960	c.2067G>T	c.(2065-2067)gtG>gtT	p.V689V		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	689										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTAACCTGTCCACAATACTGA	0.363000													18	22					8.34094e-07	9.3395e-07	0.008871	1	0
CAPRIN1	4076	broad.mit.edu	37	11	34104422	34104422	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:34104422G>A	ENST00000341394.4	+	8	1066	c.877G>A	c.(877-879)Gag>Aag	p.E293K	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E293K|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E293K|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E212K|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E293K	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	293					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGAATCAACAGAGGTATGATT	0.353000													7	22					0	0	0.001984	0	0
METTL15	196074	broad.mit.edu	37	11	28318426	28318426	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:28318426A>G	ENST00000406787.3	+	6	1140	c.682A>G	c.(682-684)Acg>Gcg	p.T228A	METTL15_ENST00000342303.5_Silent_p.A242A|METTL15_ENST00000407364.3_Silent_p.A242A|METTL15_ENST00000303459.6_Silent_p.A242A	NM_001113528.1	NP_001107000.1	A6NJ78	MET15_HUMAN	methyltransferase like 15	0							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						TTGTTCAGGCACGCAGCATCT	0.438000													14	53					0	0	0.004007	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212452	1212452	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:1212452G>T	ENST00000304460.10	+	4	572	c.516G>T	c.(514-516)gtG>gtT	p.V172V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	172					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTCCCCTGTGGACTACTTCT	0.622000													52	225					6.08268e-21	9.16106e-21	0.014410	1	0
MED13L	23389	broad.mit.edu	37	12	116446534	116446534	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:116446534G>C	ENST00000281928.3	-	10	1890	c.1684C>G	c.(1684-1686)Cag>Gag	p.Q562E		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	562					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTCGTGGCTGAGGGCTGAGT	0.498000													5	78					0	0	0.014758	0	0
APC	324	broad.mit.edu	37	5	112174767	112174767	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:112174767C>T	ENST00000457016.1	+	16	3856	c.3476C>T	c.(3475-3477)cCa>cTa	p.P1159L	APC_ENST00000508376.2_Missense_Mutation_p.P1159L|APC_ENST00000257430.4_Missense_Mutation_p.P1159L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1159	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAGAGAGACCAACAAATTAT	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	18					0	0	0.006122	0	0
NID1	4811	broad.mit.edu	37	1	236201530	236201530	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:236201530G>T	ENST00000264187.6	-	5	1241	c.1159C>A	c.(1159-1161)Cgc>Agc	p.R387S	NID1_ENST00000366595.3_Missense_Mutation_p.R387S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	387	EGF-like 1.		R -> H (in dbSNP:rs16833154).		cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CACGTCTGGCGGGAATCCGTG	0.557000													31	70					9.04072e-19	1.31878e-18	0.015359	1	0
ZNF648	127665	broad.mit.edu	37	1	182026853	182026853	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:182026853G>A	ENST00000339948.3	-	2	500	c.293C>T	c.(292-294)tCt>tTt	p.S98F		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCTTTCCCAGACATTTCCAC	0.562000													44	51					0	0	0.010771	0	0
DHX37	57647	broad.mit.edu	37	12	125438724	125438724	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:125438724C>T	ENST00000308736.2	-	19	2585	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	DHX37_ENST00000544745.1_Silent_p.L616L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	829							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCTTGCTCTTCAGCCTGGTGA	0.657000													13	52					0	0	0.013537	0	0
TMEM246	84302	broad.mit.edu	37	9	104238675	104238675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:104238675C>A	ENST00000374851.1	-	4	1847	c.700G>T	c.(700-702)Gag>Tag	p.E234*	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Nonsense_Mutation_p.E234*|TMEM246_ENST00000374848.3_Nonsense_Mutation_p.E234*			Q9BRR3	CI125_HUMAN	transmembrane protein 246	234						integral to membrane											AGATGTGGCTCAGAGAAGCGA	0.542000													51	29					8.72198e-27	1.40894e-26	0.014410	1	0
CSMD1	64478	broad.mit.edu	37	8	3889606	3889606	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:3889606G>A	ENST00000520002.1	-	4	986	c.431C>T	c.(430-432)aCt>aTt	p.T144I	CSMD1_ENST00000537824.1_Missense_Mutation_p.T144I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T144I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T144I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T144I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T144I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T144I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	144	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCCACAAGTGTGGCTAGG	0.393000													8	28					0	0	0.003080	0	0
REM1	28954	broad.mit.edu	37	20	30072057	30072057	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:30072057C>A	ENST00000201979.2	+	5	1014	c.721C>A	c.(721-723)Cgc>Agc	p.R241S		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	241	Arg-rich.				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCGTGGTGCGCCAACTGCG	0.682000													12	9					3.07112e-06	3.38096e-06	0.010729	1	0
SMOX	54498	broad.mit.edu	37	20	4162483	4162483	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:4162483G>T	ENST00000305958.4	+	4	694	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	SMOX_ENST00000339123.6_Missense_Mutation_p.D157Y|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.D157Y|SMOX_ENST00000379460.2_Missense_Mutation_p.D157Y	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	157					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.D157N(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CTTCCGGCACGATAAACCAGT	0.532000													43	79					6.07928e-31	1.00389e-30	0.009718	1	0
MSRA	4482	broad.mit.edu	37	8	10177392	10177392	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:10177392G>A	ENST00000528246.1	+	6	861		c.e6-1		MSRA_ENST00000382490.5_Splice_Site|MSRA_ENST00000317173.4_Splice_Site|MSRA_ENST00000441698.2_Splice_Site|MSRA_ENST00000518255.1_Splice_Site	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A						methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGCTTTCCTAGGTATGCGCCA	0.537000													11	19					0	0	0.008291	0	0
ZEB2	9839	broad.mit.edu	37	2	145161529	145161529	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:145161529G>T	ENST00000558170.2	-	6	1945	c.761C>A	c.(760-762)aCc>aAc	p.T254N	ZEB2_ENST00000409487.3_Missense_Mutation_p.T254N|ZEB2_ENST00000303660.4_Missense_Mutation_p.T254N|ZEB2_ENST00000539609.3_Missense_Mutation_p.T230N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	254						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCGAGCTGGGTGCGGTAGGC	0.493000													67	91					3.4779e-39	6.02006e-39	0.014410	1	0
RAD9A	5883	broad.mit.edu	37	11	67164943	67164943	+	Silent	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:67164943A>C	ENST00000307980.2	+	11	1182	c.1089A>C	c.(1087-1089)tcA>tcC	p.S363S	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	363	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			AGTTCCGCTCACTGTTCTTCG	0.622000								Other conserved DNA damage response genes					5	26					0	0	0.001168	0	0
SCAND3	114821	broad.mit.edu	37	6	28540716	28540716	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:28540716C>A	ENST00000452236.2	-	4	3567	c.2950G>T	c.(2950-2952)Gta>Tta	p.V984L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	984					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atctgggttaccacttcagaa	0.343000													30	42					1.06801e-11	1.37422e-11	0.009535	1	0
COL10A1	1300	broad.mit.edu	37	6	116442518	116442518	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:116442518G>A	ENST00000327673.4	-	2	1168	c.761C>T	c.(760-762)cCt>cTt	p.P254L	COL10A1_ENST00000243222.4_Missense_Mutation_p.P254L|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G58R|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	254	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTCCCCAGGAGGGCCTTGGGG	0.587000													19	71					0	0	0.012319	0	0
PGM2L1	283209	broad.mit.edu	37	11	74054018	74054018	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:74054018T>C	ENST00000298198.4	-	11	1665	c.1354A>G	c.(1354-1356)Agt>Ggt	p.S452G		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	452					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ACAGCTGCACTCACCCCATCT	0.373000													65	33					0	0	0.014410	0	0
LSAMP	4045	broad.mit.edu	37	3	115805215	115805215	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:115805215G>T	ENST00000490035.1	-	2	843	c.344C>A	c.(343-345)aCa>aAa	p.T115K	LSAMP_ENST00000539563.1_Missense_Mutation_p.T112K	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	115	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCATGCTGTGTCTGAACTGA	0.488000													23	9					3.01185e-09	3.60838e-09	0.003954	1	0
FAM83B	222584	broad.mit.edu	37	6	54806408	54806408	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:54806408G>C	ENST00000306858.7	+	5	2755	c.2639G>C	c.(2638-2640)aGg>aCg	p.R880T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	880										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTTGGAAAGGGCAGGAGAT	0.433000													25	47					0	0	0.003954	0	0
DCLK3	85443	broad.mit.edu	37	3	36763037	36763037	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:36763037G>A	ENST00000416516.2	-	3	2056	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	522	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAAGAATTTCGGGAGCTACGT	0.388000													32	26					0	0	0.013726	0	0
INPP5D	3635	broad.mit.edu	37	2	234102540	234102540	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:234102540G>T	ENST00000359570.5	+	25	2493	c.2493G>T	c.(2491-2493)ttG>ttT	p.L831F	INPP5D_ENST00000450745.1_Missense_Mutation_p.L595F|INPP5D_ENST00000455936.2_Missense_Mutation_p.L595F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	843					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ATGGGGAGTTGACAGGCCACT	0.612000													21	109					3.62473e-10	4.46275e-10	0.012319	1	0
OR2M4	26245	broad.mit.edu	37	1	248402303	248402303	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248402303A>T	ENST00000306687.1	+	1	73	c.73A>T	c.(73-75)Acc>Tcc	p.T25S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCCACCCACACCTTCCTTTT	0.458000													73	108					0	0	0.014410	0	0
OR2T11	127077	broad.mit.edu	37	1	248789723	248789723	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248789723G>T	ENST00000330803.2	-	1	768	c.707C>A	c.(706-708)aCc>aAc	p.T236N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAACAAGTGGTGAAGGCCTT	0.522000													29	51					3.73988e-18	5.40583e-18	0.006320	1	0
MZF1	7593	broad.mit.edu	37	19	59073873	59073873	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:59073873G>A	ENST00000215057.2	-	6	2331	c.1771C>T	c.(1771-1773)Cac>Tac	p.H591Y	AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.H591Y	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	591					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCGCCCGTGTGTACGCGGAGA	0.682000													21	9					0	0	0.012319	0	0
KRT33B	3884	broad.mit.edu	37	17	39521219	39521219	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:39521219G>T	ENST00000251646.3	-	6	958	c.909C>A	c.(907-909)agC>agA	p.S303R		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	303	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.S303S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGCGGGCCTCGCTCTCTGTCA	0.582000													13	57					0.000308642	0.000321346	0.003163	1	0
OR2G6	391211	broad.mit.edu	37	1	248685161	248685161	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248685161T>A	ENST00000343414.4	+	1	246	c.214T>A	c.(214-216)Tgc>Agc	p.C72S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C72R(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGACATCTGCTTTACCAC	0.507000													39	73					0	0	0.006230	0	0
SMC4	10051	broad.mit.edu	37	3	160130201	160130201	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:160130201G>A	ENST00000357388.3	+	7	1391	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	SMC4_ENST00000469762.1_Missense_Mutation_p.E289K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.E314K|SMC4_ENST00000470240.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.E314K|SMC4_ENST00000344722.5_Missense_Mutation_p.E314K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	314					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTGGAAAATGAAATATTTAG	0.284000													10	4					0	0	0.008291	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242216	87242216	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:87242216G>T	ENST00000297524.3	-	1	394	c.291C>A	c.(289-291)ctC>ctA	p.L97L	SLC7A13_ENST00000419776.2_Silent_p.L97L|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	97						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGGATGTCCAGAGATTCAAAA	0.478000													15	35					2.62699e-14	3.58313e-14	0.003163	1	0
OR10W1	81341	broad.mit.edu	37	11	58035302	58035302	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:58035302G>A	ENST00000395079.2	-	1	430	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TTCTGGGCAGGAGGGATAGGC	0.453000													19	34					0	0	0.008871	0	0
PDIA4	9601	broad.mit.edu	37	7	148709025	148709025	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:148709025C>G	ENST00000286091.4	-	6	1124	c.892G>C	c.(892-894)Gag>Cag	p.E298Q		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	298	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTCAGGAACTCCTGGACCTGC	0.577000													22	63					0	0	0.014323	0	0
C1orf173	127254	broad.mit.edu	37	1	75038923	75038923	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:75038923T>G	ENST00000326665.5	-	14	2689	c.2471A>C	c.(2470-2472)gAg>gCg	p.E824A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	824	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTGTAAACTCTTCTGCCAA	0.577000													73	33					0	0	0.014410	0	0
MORC2	22880	broad.mit.edu	37	22	31328732	31328732	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:31328732C>A	ENST00000215862.4	-	24	3724	c.2361G>T	c.(2359-2361)gtG>gtT	p.V787V	MORC2_ENST00000397641.2_Silent_p.V849V	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	849							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCATCAGCCGCACATCCTCAC	0.617000													31	23					1.55811e-20	2.33088e-20	0.008361	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319673	21319673	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:21319673T>A	ENST00000583088.1	+	3	1914	c.1019T>A	c.(1018-1020)aTt>aAt	p.I340N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.I340N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAGTACAAGATTGACTACTCG	0.587000										Prostate(3;0.18)			29	289					0	0	0.014410	0	0
F13A1	2162	broad.mit.edu	37	6	6266857	6266857	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:6266857C>T	ENST00000264870.3	-	4	770	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	169					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGAAGTACGCCATAGGGAGTC	0.463000													24	54					0	0	0.016522	0	0
GNGT1	2792	broad.mit.edu	37	7	93536150	93536150	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:93536150T>A	ENST00000455502.1	+	3	346	c.92T>A	c.(91-93)aTg>aAg	p.M31K	GNGT1_ENST00000429473.1_Missense_Mutation_p.M31K|GNGT1_ENST00000430875.1_Missense_Mutation_p.M31K|GNGT1_ENST00000248572.5_Missense_Mutation_p.M31K|GNGT1_ENST00000428834.1_Missense_Mutation_p.M31K			P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	31					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGAAAGAATGCTAGTAAGT	0.383000													17	11					0	0	0.004990	0	0
FRMD6	122786	broad.mit.edu	37	14	52156583	52156583	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:52156583G>A	ENST00000395718.2	+	2	314	c.29G>A	c.(28-30)aGa>aAa	p.R10K	FRMD6_ENST00000356218.4_Missense_Mutation_p.R10K|FRMD6_ENST00000344768.5_Missense_Mutation_p.R10K	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	10						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CATAACAACAGAGTCATGCAA	0.453000													9	26					0	0	0.006214	0	0
C20orf26	26074	broad.mit.edu	37	20	20168617	20168617	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:20168617G>T	ENST00000245957.5	+	14	1505	c.1429G>T	c.(1429-1431)Gtg>Ttg	p.V477L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	477										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACTCCTGGTGTGGAAAATCT	0.398000													28	81					4.02929e-09	4.82215e-09	0.010818	1	0
PABPC5	140886	broad.mit.edu	37	X	90691082	90691082	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:90691082G>T	ENST00000312600.3	+	2	720	c.506G>T	c.(505-507)cGg>cTg	p.R169L	PABPC5_ENST00000373105.1_Missense_Mutation_p.R5L	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	169	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AATGGAGTGCGGCTCAACAAC	0.512000													19	21					6.94344e-10	8.50171e-10	0.006122	1	0
ALOXE3	59344	broad.mit.edu	37	17	8018969	8018969	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:8018969C>A	ENST00000380149.1	-	3	888	c.858G>T	c.(856-858)ctG>ctT	p.L286L	ALOXE3_ENST00000318227.3_Silent_p.L262L|ALOXE3_ENST00000448843.2_Silent_p.L130L			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	130	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCCTGTGATCCAGGAGGAGGG	0.478000													48	21					4.33383e-22	6.60761e-22	0.014410	1	0
PAGR1	79447	broad.mit.edu	37	16	29827971	29827971	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:29827971C>T	ENST00000320330.6	+	1	687	c.125C>T	c.(124-126)tCg>tTg	p.S42L	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CCCTCTGCCTCGGCCGGTAAG	0.711000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	0.009096	0	0
KCNH1	3756	broad.mit.edu	37	1	210948702	210948702	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:210948702G>A	ENST00000367007.4	-	10	2188	c.2019C>T	c.(2017-2019)aaC>aaT	p.N673N	KCNH1_ENST00000271751.4_Silent_p.N700N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	700	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTCCTCAAGTTGTACGTCA	0.463000													4	14					0	0	0.009096	0	0
ASB16	92591	broad.mit.edu	37	17	42249613	42249613	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:42249613C>A	ENST00000293414.1	+	2	585	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	167					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCGGAGCCAAGGCTAATG	0.632000													44	47					6.48837e-15	8.92652e-15	0.010771	1	0
CUEDC2	79004	broad.mit.edu	37	10	104183901	104183901	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:104183901A>T	ENST00000369937.4	-	6	591	c.446T>A	c.(445-447)gTg>gAg	p.V149E	CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	149	CUE.					cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAGTACATCCACCCCTGGCAG	0.602000													20	33					0	0	0.007413	0	0
TRIM48	79097	broad.mit.edu	37	11	55032460	55032460	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55032460C>G	ENST00000417545.2	+	2	215	c.129C>G	c.(127-129)acC>acG	p.T43T		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	27						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACCCGGTCACCATAGACTGTG	0.473000													77	143					0	0	0.014410	0	0
GRM5	2915	broad.mit.edu	37	11	88386483	88386483	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:88386483C>A	ENST00000418177.2	-	4	1367	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	GRM5_ENST00000305447.4_Missense_Mutation_p.V334F|GRM5_ENST00000393297.1_Missense_Mutation_p.V334F|GRM5_ENST00000305432.5_Missense_Mutation_p.V334F|GRM5_ENST00000455756.2_Missense_Mutation_p.V334F			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	334					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AACCACTTGACATCGGGAGAT	0.473000													22	76					1.10923e-09	1.34485e-09	0.016522	1	0
ATP2B3	492	broad.mit.edu	37	X	152818492	152818492	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:152818492G>A	ENST00000370186.1	+	11	2107		c.e11-1		ATP2B3_ENST00000393842.1_Splice_Site|ATP2B3_ENST00000370181.2_Splice_Site|ATP2B3_ENST00000349466.2_Splice_Site|ATP2B3_ENST00000263519.4_Splice_Site|ATP2B3_ENST00000359149.3_Splice_Site			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3						ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTGCCTAGGTGCACCAAC	0.597000													37	18					0	0	0.004878	0	0
RNF24	11237	broad.mit.edu	37	20	3914811	3914811	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:3914811G>A	ENST00000336095.5	-	6	597	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	RNF24_ENST00000545616.1_Missense_Mutation_p.P137S|RNF24_ENST00000358395.6_Missense_Mutation_p.P116S|RNF24_ENST00000432261.2_Missense_Mutation_p.P137S	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	116						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTGCACAGGGGACACACTTTA	0.562000													23	74					0	0	0.016522	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793178	140793178	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140793178A>T	ENST00000398610.2	+	1	436	c.436A>T	c.(436-438)Att>Ttt	p.I146F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGTAAAAATTAATGAAAA	0.443000													23	6					0	0	0.012319	0	0
C12orf40	283461	broad.mit.edu	37	12	40076816	40076816	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:40076816A>G	ENST00000324616.5	+	8	1244	c.1090A>G	c.(1090-1092)Aaa>Gaa	p.K364E	C12orf40_ENST00000405531.3_Missense_Mutation_p.K364E|C12orf40_ENST00000398716.1_Missense_Mutation_p.K287E	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	364										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GACTTTGAATAAAACAAGTTA	0.313000													20	13					0	0	0.007413	0	0
AQP12B	653437	broad.mit.edu	37	2	241622123	241622123	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:241622123C>A	ENST00000407834.3	-	1	194	c.132G>T	c.(130-132)gcG>gcT	p.A44A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	41						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CGAGCTGCACCGCGCCCACCG	0.687000													45	14					6.57855e-14	8.90745e-14	0.009718	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515701	70515701	+	Nonsense_Mutation	SNP	G	G	T	rs149109491	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:70515701G>T	ENST00000381269.2	-	7	2943	c.2190C>A	c.(2188-2190)taC>taA	p.Y730*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Y724*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000216568.7_Nonsense_Mutation_p.Y101*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Y727*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Y728*|SLC8A3_ENST00000394330.2_Nonsense_Mutation_p.Y87*|SLC8A3_ENST00000533541.1_Nonsense_Mutation_p.Y87*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	730					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTGCATGACGTAGTCAAAGC	0.572000													12	39					3.03607e-14	4.13604e-14	0.013537	1	0
DACH2	117154	broad.mit.edu	37	X	85769353	85769353	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:85769353C>A	ENST00000373131.1	+	2	723	c.560C>A	c.(559-561)gCa>gAa	p.A187E	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.A33E|DACH2_ENST00000373125.4_Missense_Mutation_p.A200E	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGACCCATGCAGTCCCAGGC	0.473000													7	12					8.12818e-05	8.64056e-05	0.001984	1	0
C12orf66	144577	broad.mit.edu	37	12	64587848	64587848	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:64587848C>G	ENST00000311915.8	-	3	1139	c.1112G>C	c.(1111-1113)cGc>cCc	p.R371P	C12orf66_ENST00000398055.3_Missense_Mutation_p.R371P|C12orf66_ENST00000544871.1_Missense_Mutation_p.R318P			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	371										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						ATCAGATGTGCGGTCCGTCAT	0.527000													31	130					0	0	0.010818	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630430	74630430	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:74630430G>T	ENST00000358632.4	-	9	1670	c.975C>A	c.(973-975)ttC>ttA	p.F325L	CYP11A1_ENST00000419019.2_Missense_Mutation_p.F325L|CYP11A1_ENST00000268053.6_Missense_Mutation_p.F483L	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	483					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TTTCAACTCTGAAGTTCTCCA	0.532000													31	61					3.90053e-15	5.3929e-15	0.012213	1	0
ZNF215	7762	broad.mit.edu	37	11	6953824	6953824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:6953824G>A	ENST00000278319.5	+	3	909	c.321G>A	c.(319-321)tgG>tgA	p.W107*	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Nonsense_Mutation_p.W107*|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.W107*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	107	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCAGGACTTGGGTGAATTTAC	0.383000													13	23					0	0	0.013537	0	0
NDUFA4	4697	broad.mit.edu	37	7	10979642	10979642	+	Splice_Site	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:10979642C>T	ENST00000339600.5	-	1	241		c.e1+1		NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	CACGAACTTACGCTCGGATGC	0.562000													88	55					0	0	0.014410	0	0
L1CAM	3897	broad.mit.edu	37	X	153129862	153129862	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:153129862G>T	ENST00000370060.1	-	25	3426	c.3237C>A	c.(3235-3237)gaC>gaA	p.D1079E	L1CAM_ENST00000361699.4_Missense_Mutation_p.D1079E|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1081E|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1081E|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1074E|L1CAM_ENST00000370057.3_Missense_Mutation_p.D1079E|L1CAM_ENST00000361981.3_Missense_Mutation_p.D1074E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1079	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCTGCAGGTCCCACTGCG	0.587000													129	66					2.67195e-58	4.75061e-58	0.014410	1	0
ZNF195	7748	broad.mit.edu	37	11	3381449	3381449	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:3381449C>G	ENST00000354599.6	-	4	677	c.573G>C	c.(571-573)caG>caC	p.Q191H	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q195H|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q263H|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q244H|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q195H|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q240H	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	263	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTGAATTTTCTGATGTTCAG	0.358000													16	28					0	0	0.003163	0	0
OR10G2	26534	broad.mit.edu	37	14	22102650	22102650	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:22102650A>T	ENST00000542433.1	-	1	446	c.349T>A	c.(349-351)Tgc>Agc	p.C117S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAGAGGAAGCACTGGGTGCTG	0.498000													10	27					0	0	0.006214	0	0
KDM6B	23135	broad.mit.edu	37	17	7751209	7751209	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:7751209G>A	ENST00000254846.5	+	11	1992	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	KDM6B_ENST00000448097.2_Missense_Mutation_p.V535M	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	535	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCTTTTCTGTGGGCACTCA	0.662000													39	9					0	0	0.005524	0	0
FAT2	2196	broad.mit.edu	37	5	150947983	150947983	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:150947983C>A	ENST00000261800.5	-	1	522	c.510G>T	c.(508-510)gtG>gtT	p.V170V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	170	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCAGTCACCTTGCAGA	0.517000													62	49					9.53978e-28	1.55458e-27	0.014410	1	0
ZNF606	80095	broad.mit.edu	37	19	58489748	58489748	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:58489748C>T	ENST00000341164.4	-	7	2920	c.2300G>A	c.(2299-2301)aGt>aAt	p.S767N	ZNF606_ENST00000536132.1_Missense_Mutation_p.S677N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCCACATTCACTGCATATAAA	0.363000													44	31					0	0	0.011902	0	0
FOXS1	2307	broad.mit.edu	37	20	30433385	30433385	+	Translation_Start_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:30433385G>T	ENST00000375978.3	-	0	35					NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1						anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGCTGGGTCAGGCTCAGCTTC	0.672000													15	28					1.15088e-07	1.32054e-07	0.004007	1	0
CASP1	834	broad.mit.edu	37	11	104905107	104905107	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:104905107C>T	ENST00000533400.1	-	2	137	c.102G>A	c.(100-102)gtG>gtA	p.V34V	CASP1_ENST00000393136.4_Silent_p.V34V|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_5'UTR|CASP1_ENST00000598974.1_Silent_p.V34V|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Silent_p.V34V|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Silent_p.V18V|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Silent_p.V34V|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Silent_p.V34V	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	34	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CCTTGTTCAGCACCCTTGTCT	0.428000													100	96					0	0	0.014410	0	0
BMP3	651	broad.mit.edu	37	4	81967765	81967765	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:81967765A>T	ENST00000282701.2	+	2	1510	c.1190A>T	c.(1189-1191)tAt>tTt	p.Y397F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	397					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTTGATGCCTATTATTGCTCT	0.453000													126	75					0	0	0.014410	0	0
TBX20	57057	broad.mit.edu	37	7	35242262	35242262	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:35242262A>T	ENST00000408931.3	-	8	1650	c.1124T>A	c.(1123-1125)aTa>aAa	p.I375K		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	375						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGGTGTTGCTATGGATGCTGT	0.542000													7	9					0	0	0.006214	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453666	84453666	+	Silent	SNP	G	G	T	rs150664551	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:84453666G>T	ENST00000377084.2	-	1	2862	c.1977C>A	c.(1975-1977)tcC>tcA	p.S659S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	659						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATTAATCTCGGACGCGGAGG	0.547000													14	40					1.05317e-09	1.28107e-09	0.002450	1	0
ABR	29	broad.mit.edu	37	17	1028541	1028541	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:1028541G>T	ENST00000544583.2	-	2	684	c.85C>A	c.(85-87)Cca>Aca	p.P29T	ABR_ENST00000302538.5_Missense_Mutation_p.P75T|ABR_ENST00000574437.1_Missense_Mutation_p.P29T	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	75					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCCTCAGGTGGAGTCGGGGAG	0.677000													60	61					5.47352e-35	9.3293e-35	0.014410	1	0
FLT4	2324	broad.mit.edu	37	5	180053196	180053196	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:180053196C>A	ENST00000261937.6	-	9	1251	c.1173G>T	c.(1171-1173)gaG>gaT	p.E391D	FLT4_ENST00000502649.1_Missense_Mutation_p.E391D|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E391D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	391	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTGCTGGCCTCTGTCACCT	0.637000													64	48					2.19297e-23	3.43383e-23	0.014410	1	0
CD1E	913	broad.mit.edu	37	1	158326360	158326360	+	Nonstop_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:158326360A>T	ENST00000368161.3	+	5	873	c.873A>T	c.(871-873)tgA>tgT	p.*291C	CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.D137V|CD1E_ENST00000368164.3_Nonstop_Mutation_p.*102C|CD1E_ENST00000368163.3_Missense_Mutation_p.D271V|CD1E_ENST00000368155.3_Missense_Mutation_p.D181V|CD1E_ENST00000368160.3_Missense_Mutation_p.D326V|CD1E_ENST00000368167.3_Missense_Mutation_p.D326V|CD1E_ENST00000368154.1_Missense_Mutation_p.D82V|CD1E_ENST00000444681.2_Missense_Mutation_p.D227V|CD1E_ENST00000368166.3_Missense_Mutation_p.D137V|CD1E_ENST00000368165.3_Missense_Mutation_p.D236V|CD1E_ENST00000368157.1_Missense_Mutation_p.D82V|CD1E_ENST00000368156.1_Missense_Mutation_p.D236V	NM_001042584.2	NP_001036049.1	P15812	CD1E_HUMAN	CD1e molecule	0	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTGTAGTTGACTCACGGTTA	0.358000													5	15					0	0	0.014758	0	0
SCN5A	6331	broad.mit.edu	37	3	38592470	38592470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:38592470C>T	ENST00000413689.1	-	28	5586	c.5393G>A	c.(5392-5394)tGg>tAg	p.W1798*	SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1797*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1765*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1798*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1744*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1780*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1797*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1798					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAATTTCTCCCAGATCTCATA	0.527000													12	41					0	0	0.010729	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351752	134351752	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:134351752G>T	ENST00000357304.4	+	15	4291	c.4236G>T	c.(4234-4236)gaG>gaT	p.E1412D	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1412							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTTGGGTGAGAAGAAGGAGC	0.642000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	10					7.48243e-07	8.42057e-07	0.006214	1	0
DUSP3	1845	broad.mit.edu	37	17	41847041	41847041	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:41847041C>A	ENST00000226004.3	-	3	557	c.494G>T	c.(493-495)gGc>gTc	p.G165V	DUSP3_ENST00000397937.2_Missense_Mutation_p.G124V	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	165	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GGCCAGGAAGCCATCGTTGGG	0.597000													21	48					8.34094e-07	9.3395e-07	0.008871	1	0
SLC17A6	57084	broad.mit.edu	37	11	22397613	22397613	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:22397613G>A	ENST00000263160.3	+	10	1697	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	420					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TACTTGCAGTGGGATTCAGTG	0.398000													37	98					0	0	0.007835	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348188	77348188	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:77348188G>A	ENST00000267970.4	-	3	546	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TSPAN3_ENST00000346495.2_Intron|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000424443.3_Silent_p.L27L|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000559494.1_Intron	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	91						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		CAAAAACCAAGAGCAGGATGA	0.303000													24	50					0	0	0.003954	0	0
UBR4	23352	broad.mit.edu	37	1	19412691	19412691	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:19412691G>A	ENST00000375267.2	-	101	14764	c.14761C>T	c.(14761-14763)Ccg>Tcg	p.P4921S	UBR4_ENST00000375226.2_Missense_Mutation_p.P4897S|UBR4_ENST00000543981.1_Missense_Mutation_p.P585S|UBR4_ENST00000375217.2_Missense_Mutation_p.P4914S|UBR4_ENST00000429347.2_Missense_Mutation_p.P444S|UBR4_ENST00000375224.1_Missense_Mutation_p.P628S|UBR4_ENST00000375254.3_Missense_Mutation_p.P4921S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4921					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCCAGACCGGAAGGAGCCCG	0.572000													29	17					0	0	0.009535	0	0
VIPR1	7433	broad.mit.edu	37	3	42560740	42560740	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:42560740C>G	ENST00000433647.1	+	4	711	c.87C>G	c.(85-87)ctC>ctG	p.L29L	VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000325123.4_Silent_p.L70L|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.L23L|VIPR1_ENST00000473575.1_3'UTR	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	70					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGGACAACCTCACCTGCTGGC	0.602000													8	37					0	0	0.004482	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337040	13337040	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:13337040G>T	ENST00000380622.2	-	1	1478	c.1014C>A	c.(1012-1014)gtC>gtA	p.V338V	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	338					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.V338V(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAATGGTGTCGACAGCGGCCT	0.378000													36	108					1.03484e-13	1.38935e-13	0.005524	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128383	68128383	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:68128383G>T	ENST00000585558.1	+	4	648	c.260G>T	c.(259-261)gGa>gTa	p.G87V	KCNJ16_ENST00000392671.1_Missense_Mutation_p.G52V|KCNJ16_ENST00000589377.1_Missense_Mutation_p.G52V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.G91V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.G52V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.G52V			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	52					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CACATTTTTGGAGAATGGGGA	0.433000													41	33					7.88023e-25	1.25835e-24	0.014410	1	0
OR51T1	401665	broad.mit.edu	37	11	4903989	4903989	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:4903989C>G	ENST00000380378.1	+	1	941	c.941C>G	c.(940-942)cCt>cGt	p.P314R	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.P287R|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTTACCACCTGTGCTGAAC	0.502000													17	57					0	0	0.004990	0	0
WSCD1	23302	broad.mit.edu	37	17	5998516	5998516	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:5998516G>T	ENST00000574946.1	+	5	1212	c.822G>T	c.(820-822)ggG>ggT	p.G274G	WSCD1_ENST00000317744.5_Silent_p.G274G|WSCD1_ENST00000539421.1_Silent_p.G274G|WSCD1_ENST00000573634.1_Silent_p.G158G|WSCD1_ENST00000574232.1_Silent_p.G274G			Q658N2	WSCD1_HUMAN	WSC domain containing 1	274	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGACCGTGGGGACTTGCTCGG	0.567000													93	32					1.78623e-52	3.15567e-52	0.014410	1	0
MUC17	140453	broad.mit.edu	37	7	100679101	100679101	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:100679101C>T	ENST00000306151.4	+	3	4468	c.4404C>T	c.(4402-4404)gcC>gcT	p.A1468A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1468	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGCCGGTGGCCAATTCTGAGG	0.473000													212	125					0	0	0.014410	0	0
DDX42	11325	broad.mit.edu	37	17	61877962	61877962	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:61877962C>T	ENST00000578681.1	+	7	1207	c.606C>T	c.(604-606)ccC>ccT	p.P202P	DDX42_ENST00000457800.2_Silent_p.P202P|DDX42_ENST00000359353.5_Silent_p.P83P|DDX42_ENST00000389924.2_Silent_p.P202P|DDX42_ENST00000583590.1_Silent_p.P202P	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	202					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTCTTCCCCCCATTGATCATT	0.393000													52	58					0	0	0.014410	0	0
MAGED2	10916	broad.mit.edu	37	X	54838629	54838629	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:54838629C>A	ENST00000375068.1	+	7	1263	c.1030C>A	c.(1030-1032)Cac>Aac	p.H344N	MAGED2_ENST00000218439.4_Missense_Mutation_p.H344N|MAGED2_ENST00000375058.1_Missense_Mutation_p.H344N|MAGED2_ENST00000375062.4_Missense_Mutation_p.H259N|MAGED2_ENST00000375053.2_Missense_Mutation_p.H344N|MAGED2_ENST00000396224.1_Missense_Mutation_p.H344N|MAGED2_ENST00000375060.1_Missense_Mutation_p.H259N|MAGED2_ENST00000343474.6_Missense_Mutation_p.H326N|MAGED2_ENST00000347546.3_Missense_Mutation_p.H288N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	344	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TAAGAATGACCACTTGTACAT	0.502000													10	30					2.80697e-09	3.36655e-09	0.010729	1	0
DPP9	91039	broad.mit.edu	37	19	4704055	4704055	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:4704055C>A	ENST00000262960.9	-	7	889	c.612G>T	c.(610-612)atG>atT	p.M204I	DPP9_ENST00000594671.1_Missense_Mutation_p.M175I|DPP9_ENST00000597849.1_Missense_Mutation_p.M204I|DPP9_ENST00000598800.1_Missense_Mutation_p.M175I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	175				I -> N (in Ref. 3; AAO73880/AAQ83119).	proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCAGCGGTTTCATAGGGGACA	0.632000													27	20					1.08312e-15	1.50689e-15	0.009535	1	0
TFF2	7032	broad.mit.edu	37	21	43767651	43767651	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:43767651C>A	ENST00000291526.4	-	3	490	c.320G>T	c.(319-321)tGc>tTc	p.C107F	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	107	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						GTTGGAGAAGCAGCACTTCCG	0.577000													38	26					2.09667e-21	3.17928e-21	0.003755	1	0
RTN1	6252	broad.mit.edu	37	14	60193698	60193698	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:60193698C>A	ENST00000267484.5	-	3	2039	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	568					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCCAGGGCCCTTTGTGGCCG	0.597000													7	18					0.00198382	0.00204254	0.001984	1	0
NID1	4811	broad.mit.edu	37	1	236143153	236143153	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:236143153C>G	ENST00000264187.6	-	18	3560	c.3478G>C	c.(3478-3480)Ggg>Cgg	p.G1160R	NID1_ENST00000366595.3_Missense_Mutation_p.G1027R	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1160					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGATTCTTCCCGTAGCTCGTC	0.602000													17	40					0	0	0.007413	0	0
PTDSS1	9791	broad.mit.edu	37	8	97311995	97311995	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:97311995G>A	ENST00000517309.1	+	6	1000	c.674G>A	c.(673-675)tGc>tAc	p.C225Y	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.C79Y|PTDSS1_ENST00000522072.1_Missense_Mutation_p.C22Y	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	225					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATCCTGTTGTGCAATGGCGGT	0.502000													46	137					0	0	0.014410	0	0
NOLC1	9221	broad.mit.edu	37	10	103919189	103919189	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:103919189G>T	ENST00000405356.1	+	7	988		c.e7-1		NOLC1_ENST00000488254.2_Splice_Site|NOLC1_ENST00000603742.1_Splice_Site|NOLC1_ENST00000605788.1_Splice_Site			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1						mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCTAATGCAGACTGTACCTA	0.512000													66	68					2.03366e-24	3.22891e-24	0.014410	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130808405	130808405	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:130808405C>A	ENST00000509018.1	-	17	2319	c.2114G>T	c.(2113-2115)aGc>aTc	p.S705I	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S705I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S705I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S705I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S420I|FNIP1_ENST00000514667.1_Missense_Mutation_p.S755I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S705I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S705I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	705					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCCACAATGCTGTCATCTTG	0.448000													11	10					3.07112e-06	3.38096e-06	0.010729	1	0
DCC	1630	broad.mit.edu	37	18	50994282	50994282	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:50994282C>A	ENST00000442544.2	+	25	4254	c.3638C>A	c.(3637-3639)gCa>gAa	p.A1213E	DCC_ENST00000581580.1_Missense_Mutation_p.A848E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1213					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTGAGGAAGCAGGGAGCTCT	0.527000													40	17					6.5261e-18	9.3482e-18	0.008740	1	0
TNNI3	7137	broad.mit.edu	37	19	55666156	55666156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:55666156C>A	ENST00000344887.5	-	6	467	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000588882.1_Nonsense_Mutation_p.E84*|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	109					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TATCTCTCTTCATCCACCTTG	0.572000													7	32					0.000157383	0.000166036	0.003080	1	0
NLRC5	84166	broad.mit.edu	37	16	57060669	57060669	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:57060669G>T	ENST00000436936.1	+	6	2039	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	NLRC5_ENST00000539144.1_Missense_Mutation_p.R605L|NLRC5_ENST00000262510.6_Missense_Mutation_p.R605L|NLRC5_ENST00000308149.7_Missense_Mutation_p.R605L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	605					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTGGCCACCCGCAAGCTCACA	0.592000													54	28					4.86159e-25	7.77436e-25	0.014410	1	0
TMEM63A	9725	broad.mit.edu	37	1	226053597	226053597	+	Splice_Site	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:226053597C>G	ENST00000366835.3	-	10	1016	c.746_splice	c.e10+1	p.R249_splice	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	249						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACCTGCTTACCGGAAGTGGCT	0.622000													6	24					0	0	0.001168	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067822	95067822	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:95067822A>G	ENST00000506817.1	+	2	799	c.262A>G	c.(262-264)Aag>Gag	p.K88E	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000379982.3_Intron			O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	457	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGAGGCTGAAGAAGCTTTT	0.517000													14	9					0	0	0.002450	0	0
LHX8	431707	broad.mit.edu	37	1	75622763	75622763	+	Splice_Site	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:75622763T>C	ENST00000294638.5	+	9	1658		c.e9+2		LHX8_ENST00000356261.3_Splice_Site	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATATGGATGGTAGGTATCCCA	0.413000													42	26					0	0	0.010771	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237598	23237598	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:23237598C>T	ENST00000531372.1	+	2	475	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Silent_p.S123S|IGLL5_ENST00000532223.1_Silent_p.S124S	NM_001256296.1	NP_001243225.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	0						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCCCGCCCTCCTCTGAGGAGC	0.607000													11	34					0	0	0.001855	0	0
RBM10	8241	broad.mit.edu	37	X	47045892	47045892	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47045892G>T	ENST00000377604.3	+	24	3429	c.2687G>T	c.(2686-2688)gGc>gTc	p.G896V	RBM10_ENST00000329236.7_Missense_Mutation_p.G818V|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.G819V	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	896	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGGGTGCGGGGCTCCGGCCTG	0.652000													7	17					2.7689e-08	3.25426e-08	0.001984	1	0
USH2A	7399	broad.mit.edu	37	1	216420317	216420317	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:216420317C>T	ENST00000366943.2	-	13	2805	c.2419G>A	c.(2419-2421)Gtc>Atc	p.V807I	USH2A_ENST00000307340.3_Missense_Mutation_p.V807I|USH2A_ENST00000366942.3_Missense_Mutation_p.V807I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	807	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATTACAGACAGTCCCAGGG	0.468000										HNSCC(13;0.011)			10	39					0	0	0.008291	0	0
CNR1	1268	broad.mit.edu	37	6	88854435	88854435	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:88854435T>A	ENST00000537554.1	-	2	4121	c.559A>T	c.(559-561)Aac>Tac	p.N187Y	CNR1_ENST00000535130.1_Missense_Mutation_p.N187Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.N154Y|CNR1_ENST00000549716.1_Missense_Mutation_p.N126Y|CNR1_ENST00000369501.2_Missense_Mutation_p.N187Y|CNR1_ENST00000428600.2_Missense_Mutation_p.N187Y|CNR1_ENST00000369499.2_Missense_Mutation_p.N187Y|CNR1_ENST00000549890.1_Missense_Mutation_p.N187Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	187					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.N187Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAACACGTTGCGGCTATCT	0.557000													24	58					0	0	0.003330	0	0
CALCRL	10203	broad.mit.edu	37	2	188225437	188225437	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:188225437C>A	ENST00000409998.1	-	11	1450	c.669G>T	c.(667-669)atG>atT	p.M223I	CALCRL_ENST00000410068.1_Missense_Mutation_p.M223I|CALCRL_ENST00000392370.3_Missense_Mutation_p.M223I|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	223						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AATTACAGCCCATCAGGTAAA	0.373000													25	26					7.41945e-09	8.80368e-09	0.005443	1	0
CDK8	1024	broad.mit.edu	37	13	26927936	26927936	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:26927936G>T	ENST00000381527.3	+	4	878	c.375G>T	c.(373-375)cgG>cgT	p.R125R	CDK8_ENST00000536792.1_Silent_p.R125R	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	125	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTTACCTCGGGGAATGGTGA	0.373000													13	12					0.00010058	0.000106615	0.013537	1	0
PILRB	29990	broad.mit.edu	37	7	99955866	99955866	+	Missense_Mutation	SNP	G	G	A	rs61735533	by1000genomes	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:99955866G>A	ENST00000448382.1	+	6	1424	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000310771.4_5'UTR|PILRB_ENST00000444073.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACAGGGCCCCTCTCCT	0.687000													5	105					0	0	0.014758	0	0
PI4KA	5297	broad.mit.edu	37	22	21159449	21159449	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:21159449G>A	ENST00000255882.6	-	11	1259	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	PI4KA_ENST00000572273.1_Silent_p.L333L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	333					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AAGAGGTCGGGAGGTCTGTAG	0.502000													46	40					0	0	0.013114	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725300	106725300	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:106725300C>T	ENST00000390609.2	-	0	330																											TGAACCGGCCCTTCACGGAGT	0.552000													36	177					0	0	0.003755	0	0
APC2	10297	broad.mit.edu	37	19	1468918	1468918	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:1468918C>T	ENST00000535453.1	+	14	7331	c.5618C>T	c.(5617-5619)tCc>tTc	p.S1873F	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.S1599F|APC2_ENST00000233607.2_Missense_Mutation_p.S1873F			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1873	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCCCCTCCTCCAGCTCC	0.761000													4	9					0	0	0.014758	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102490377	102490377	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:102490377T>C	ENST00000321521.9	+	12	1794	c.1221T>C	c.(1219-1221)ttT>ttC	p.F407F	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.F407F|PPIP5K2_ENST00000414217.1_Silent_p.F407F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	407					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATAAGATTTTTTGATCTTT	0.264000													8	6					0	0	0.004482	0	0
TAF5L	27097	broad.mit.edu	37	1	229730381	229730381	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:229730381G>A	ENST00000258281.2	-	5	1598	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	TAF5L_ENST00000366676.1_Missense_Mutation_p.P478L	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	478					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTACCGTTGGGAGAAAAGGC	0.592000													13	94					0	0	0.001855	0	0
THRB	7068	broad.mit.edu	37	3	24164618	24164618	+	Splice_Site	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:24164618T>C	ENST00000396671.2	-	11	1493		c.e11-2		THRB_ENST00000356447.4_Splice_Site|THRB_ENST00000416420.1_Splice_Site|THRB_ENST00000280696.5_Splice_Site	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCGGGCGATCTGCGGGGAAGA	0.498000													48	33					0	0	0.014410	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927530	92927530	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:92927530T>C	ENST00000373079.3	-	1	1037	c.774A>G	c.(772-774)gtA>gtG	p.V258V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	258					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATCTGCCTTTACCTGGGGGA	0.438000													30	49					0	0	0.007291	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599075	136599075	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:136599075G>T	ENST00000531224.1	-	4	1196	c.944C>A	c.(943-945)tCt>tAt	p.S315Y	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S315Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S313Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S313Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S315Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S313Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	315					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGGCCCCTAGACTCATCTCT	0.423000													38	129					1.57019e-19	2.32397e-19	0.007835	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	36					0	0	0.004672	0	0
CNGB3	54714	broad.mit.edu	37	8	87679304	87679304	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:87679304C>A	ENST00000320005.5	-	6	748	c.701G>T	c.(700-702)tGt>tTt	p.C234F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	234			C -> W (in dbSNP:rs6471482).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGGTATAAAACAGCAGTTCCA	0.423000													33	33					4.3181e-19	6.3488e-19	0.013726	1	0
IGHV3-49	28423	broad.mit.edu	37	14	107013178	107013178	+	RNA	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:107013178G>C	ENST00000390625.2	-	0	196																											CTGTACAGGAGAGTCTCAGGG	0.547000													15	44					0	0	0.003163	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657667	41657667	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:41657667C>A	ENST00000260359.6	+	7	947	c.683C>A	c.(682-684)tCt>tAt	p.S228Y	NUSAP1_ENST00000450592.2_Missense_Mutation_p.S219Y|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.S241Y|NUSAP1_ENST00000450318.1_Missense_Mutation_p.S243Y|NUSAP1_ENST00000414849.2_Missense_Mutation_p.S242Y|NUSAP1_ENST00000560177.1_Missense_Mutation_p.S242Y|NUSAP1_ENST00000559596.1_Missense_Mutation_p.S243Y	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	243					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TCTGTGGCTTCTACTCCCATC	0.532000													14	13					6.31663e-08	7.33098e-08	0.003163	1	0
SOGA2	23255	broad.mit.edu	37	18	8819054	8819054	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:8819054C>T	ENST00000359865.3	+	13	3095	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	SOGA2_ENST00000400050.3_Missense_Mutation_p.R944C|SOGA2_ENST00000306285.7_Missense_Mutation_p.R310C|SOGA2_ENST00000518815.1_Missense_Mutation_p.R310C|SOGA2_ENST00000517570.1_Missense_Mutation_p.R944C|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1304C	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1295																	GGGAAGCCTCCGCATGCCCCG	0.587000													42	23					0	0	0.008740	0	0
OR2W5	441932	broad.mit.edu	37	1	247654727	247654727	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:247654727C>T	ENST00000522351.1	+	0	358							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGTGTGGCCCAACTCTACAT	0.567000													47	90					0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117681140	117681140	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:117681140C>A	ENST00000317775.6	-	19	3609	c.2924G>T	c.(2923-2925)cGc>cTc	p.R975L	NOS1_ENST00000338101.4_Missense_Mutation_p.R1009L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	975					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R975H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGGTGAGGCGGAACTTGTT	0.517000													78	82					3.52157e-22	5.39134e-22	0.014410	1	0
NALCN	259232	broad.mit.edu	37	13	101707701	101707701	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:101707701G>T	ENST00000251127.6	-	44	5244	c.5163C>A	c.(5161-5163)acC>acA	p.T1721T	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1721						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)					TCAGCTGCCGGGTCCACCACT	0.488000													28	114					3.73988e-18	5.40583e-18	0.006320	1	0
PTGER3	5733	broad.mit.edu	37	1	71477998	71477998	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:71477998T>G	ENST00000370924.4	-	2	1297	c.1067A>C	c.(1066-1068)aAg>aCg	p.K356T	PTGER3_ENST00000306666.5_Missense_Mutation_p.K356T|PTGER3_ENST00000414819.1_Missense_Mutation_p.K356T|PTGER3_ENST00000370931.3_Missense_Mutation_p.K356T|PTGER3_ENST00000370932.2_Missense_Mutation_p.K356T|PTGER3_ENST00000356595.4_Missense_Mutation_p.K356T|PTGER3_ENST00000460330.1_Missense_Mutation_p.K356T|PTGER3_ENST00000351052.5_Missense_Mutation_p.K356T|PTGER3_ENST00000354608.5_Missense_Mutation_p.K356T	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	356					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CTGGCAAAACTTTCGAAGAAG	0.418000													18	45					0	0	0.007413	0	0
SYN1	6853	broad.mit.edu	37	X	47436854	47436854	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47436854T>C	ENST00000295987.7	-	6	945	c.821A>G	c.(820-822)cAc>cGc	p.H274R	SYN1_ENST00000340666.4_Missense_Mutation_p.H274R	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	274	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CATCCCAGAGTGTGCGTGCCC	0.562000													4	10					0	0	0.009096	0	0
GRIK2	2898	broad.mit.edu	37	6	102376414	102376414	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:102376414G>A	ENST00000369138.1	+	13	2482	c.1992G>A	c.(1990-1992)atG>atA	p.M664I	GRIK2_ENST00000369137.3_Missense_Mutation_p.M588I|GRIK2_ENST00000318991.6_Missense_Mutation_p.M664I|GRIK2_ENST00000413795.1_Missense_Mutation_p.M664I|GRIK2_ENST00000421544.1_Missense_Mutation_p.M664I|GRIK2_ENST00000369134.4_Missense_Mutation_p.M615I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	664					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGgaacgcatggaatccccta	0.423000													27	30					0	0	0.004656	0	0
POTEM	641455	broad.mit.edu	37	14	20019993	20019993	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:20019993G>C	ENST00000551509.1	-	1	279	c.228C>G	c.(226-228)ggC>ggG	p.G76G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	76										endometrium(4)|kidney(1)|lung(4)	9						CGTTGCTCTTGCCGCTCCCCC	0.587000													58	476					0	0	0.014410	0	0
MARCH11	441061	broad.mit.edu	37	5	16091087	16091087	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:16091087G>T	ENST00000332432.8	-	3	996	c.797C>A	c.(796-798)gCc>gAc	p.A266D	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	266						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GGGGCTGAAGGCTGACCAGAG	0.448000													56	13					4.33383e-22	6.60761e-22	0.014410	1	0
BORA	79866	broad.mit.edu	37	13	73317703	73317703	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:73317703T>A	ENST00000390667.5	+	6	514	c.417T>A	c.(415-417)gtT>gtA	p.V139V	BORA_ENST00000377815.3_Silent_p.V69V|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	139					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ACTCTCCAGTTGGAAAAAAGC	0.328000													8	42					0	0	0.004482	0	0
VPS13D	55187	broad.mit.edu	37	1	12382622	12382622	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:12382622C>T	ENST00000358136.3	+	34	7864	c.7734C>T	c.(7732-7734)ctC>ctT	p.L2578L	VPS13D_ENST00000356315.4_Silent_p.L2578L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2578					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)		ATATCAGACTCTCCTATAATG	0.418000													13	44					0	0	0.001855	0	0
MIPEP	4285	broad.mit.edu	37	13	24453494	24453494	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:24453494C>A	ENST00000382172.3	-	4	551		c.e4-1			NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TGTGTTCAACCTAGAAAAAAT	0.303000													8	59					0.00448238	0.00459382	0.004482	1	0
MROH2B	133558	broad.mit.edu	37	5	41061781	41061781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:41061781C>T	ENST00000399564.4	-	6	956	c.506G>A	c.(505-507)tGg>tAg	p.W169*		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAAATCTCTCCAGTGGTTGAC	0.453000													39	198					0	0	0.005524	0	0
FCER1A	2205	broad.mit.edu	37	1	159277713	159277713	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:159277713A>G	ENST00000368115.1	+	6	864	c.765A>G	c.(763-765)aaA>aaG	p.K255K	FCER1A_ENST00000368114.1_Silent_p.K222K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	255						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAAACCCCAAAAACAACTGAT	0.363000													9	33					0	0	0.004482	0	0
ZFP64	55734	broad.mit.edu	37	20	50715084	50715084	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:50715084G>C	ENST00000361387.2	-	6	866	c.806C>G	c.(805-807)tCc>tGc	p.S269C	ZFP64_ENST00000371518.2_Missense_Mutation_p.S269C|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371523.4_Missense_Mutation_p.S50C	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTTTCAGTGGAGAGGCAGTT	0.463000													12	48					0	0	0.010729	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251862	114251862	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:114251862C>A	ENST00000371936.1	-	0	220				IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_De_novo_Start_OutOfFrame			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2							extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TTGATATTGCCTCTCTATGAA	0.333000													14	13					7.93312e-07	8.90077e-07	0.002450	1	0
ARNT	405	broad.mit.edu	37	1	150804313	150804313	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:150804313G>A	ENST00000358595.5	-	10	1136	c.936C>T	c.(934-936)atC>atT	p.I312I	ARNT_ENST00000515192.1_Silent_p.I303I|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000505755.1_Silent_p.I297I|ARNT_ENST00000354396.2_Silent_p.I312I	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	312					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCAGGCCTTGATGTAGCCTG	0.423000			T	ETV6	AML								20	63					0	0	0.010504	0	0
OR5R1	219479	broad.mit.edu	37	11	56185013	56185013	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:56185013C>A	ENST00000312253.1	-	1	695	c.696G>T	c.(694-696)caG>caT	p.Q232H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q232H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTGTTGCCCCTGAGTAGAGC	0.443000													30	67					6.38683e-12	8.27537e-12	0.008361	1	0
KERA	11081	broad.mit.edu	37	12	91449755	91449755	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:91449755G>A	ENST00000266719.3	-	2	551	c.304C>T	c.(304-306)Cta>Tta	p.L102L		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	102					response to stimulus|visual perception	proteinaceous extracellular matrix		p.L102V(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTTGTTTAGATTTATCCAT	0.368000													17	85					0	0	0.006122	0	0
CACNA1E	777	broad.mit.edu	37	1	181452923	181452923	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:181452923G>T	ENST00000526775.1	+	1	208	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.G15C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G15C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G15C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	15					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCAGGGTCCGGCGATGGAGA	0.662000													31	41					7.26314e-15	9.95551e-15	0.007291	1	0
PRDX3	10935	broad.mit.edu	37	10	120936609	120936609	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:120936609C>A	ENST00000298510.2	-	2	135	c.93G>T	c.(91-93)agG>agT	p.R31S	PRDX3_ENST00000356951.3_Missense_Mutation_p.R31S	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	31				R -> W (in Ref. 8; AAH08435).	cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ATGCAGCAGGCCTGAGGGCTG	0.458000													19	21					6.49762e-13	8.60935e-13	0.006122	1	0
ABI2	10152	broad.mit.edu	37	2	204281786	204281786	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:204281786C>T	ENST00000295851.4	+	10	1644	c.1348C>T	c.(1348-1350)Cgt>Tgt	p.R450C	ABI2_ENST00000261017.5_Missense_Mutation_p.R412C|ABI2_ENST00000261016.6_Missense_Mutation_p.R338C|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000430418.1_Missense_Mutation_p.R395C|ABI2_ENST00000424558.1_Missense_Mutation_p.R444C|ABI2_ENST00000422511.2_Missense_Mutation_p.R417C|ABI2_ENST00000261018.7_Missense_Mutation_p.R236C			Q9NYB9	ABI2_HUMAN	abl-interactor 2	450					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTGGGCTCCACGTTCTTACTT	0.458000													57	48					0	0	0.014410	0	0
SLA	6503	broad.mit.edu	37	8	134052339	134052339	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:134052339G>A	ENST00000338087.5	-	8	1340	c.521C>T	c.(520-522)cCc>cTc	p.P174L	SLA_ENST00000395352.3_Missense_Mutation_p.P191L|SLA_ENST00000517648.1_Missense_Mutation_p.P147L|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.P66L|SLA_ENST00000427060.2_Missense_Mutation_p.P214L|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	174	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGTCAGGCAGGGCGTGGTGAG	0.637000													4	3					0	0	0.009096	0	0
EHBP1	23301	broad.mit.edu	37	2	63101631	63101631	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:63101631A>T	ENST00000263991.5	+	11	1736	c.1254A>T	c.(1252-1254)acA>acT	p.T418T	EHBP1_ENST00000431489.1_Silent_p.T383T|EHBP1_ENST00000405289.1_Silent_p.T383T|EHBP1_ENST00000354487.3_Silent_p.T383T|EHBP1_ENST00000405015.3_Silent_p.T383T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	418						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ATGAAAACACAGTTTCTGCAG	0.383000													34	73					0	0	0.003755	0	0
CDH10	1008	broad.mit.edu	37	5	24535284	24535284	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:24535284C>A	ENST00000264463.4	-	5	1258	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	251	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G251R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGGTTGTCCCCGATAAGCCT	0.512000										HNSCC(23;0.051)			42	163					1.15505e-17	1.64816e-17	0.009718	1	0
LCA5L	150082	broad.mit.edu	37	21	40800330	40800330	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:40800330C>G	ENST00000358268.2	-	4	618	c.90G>C	c.(88-90)aaG>aaC	p.K30N	LCA5L_ENST00000485895.2_Missense_Mutation_p.K30N|LCA5L_ENST00000380671.2_Missense_Mutation_p.K30N|LCA5L_ENST00000288350.3_Missense_Mutation_p.K30N			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	30										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTGGGCTTCTCTTGCATGCTG	0.423000													12	46					0	0	0.013537	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249243	71249243	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:71249243T>A	ENST00000398534.3	+	1	173	c.142T>A	c.(142-144)Tcc>Acc	p.S48T		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	48	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CTGTTCCTGCTCCAGCTGTGG	0.687000													95	461					0	0	0.014410	0	0
SCAPER	49855	broad.mit.edu	37	15	76994195	76994195	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:76994195C>A	ENST00000538941.2	-	20	2613	c.1674G>T	c.(1672-1674)gaG>gaT	p.E558D	SCAPER_ENST00000563290.1_Missense_Mutation_p.E804D|SCAPER_ENST00000324767.7_Missense_Mutation_p.E804D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	803	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAGATATACCTCTGAAGAGA	0.373000													25	37					6.12954e-19	8.96475e-19	0.004656	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													8	153					0	0	0.003080	0	0
PDE1A	5136	broad.mit.edu	37	2	183050628	183050628	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:183050628C>A	ENST00000435564.1	-	13	1755	c.1555G>T	c.(1555-1557)Gct>Tct	p.A519S	PDE1A_ENST00000536095.1_Missense_Mutation_p.A415S|PDE1A_ENST00000346717.4_Missense_Mutation_p.A485S|PDE1A_ENST00000358139.2_Missense_Mutation_p.A519S|PDE1A_ENST00000456212.1_Missense_Mutation_p.A519S|PDE1A_ENST00000410103.1_Missense_Mutation_p.A519S|PDE1A_ENST00000351439.5_Missense_Mutation_p.A503S|PDE1A_ENST00000331935.6_Missense_Mutation_p.A519S|PDE1A_ENST00000409365.1_Missense_Mutation_p.A503S	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	519					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCTTGTGCAGCTAACTCTTTC	0.443000													19	61					3.99206e-14	5.41189e-14	0.007413	1	0
RTP2	344892	broad.mit.edu	37	3	187419849	187419849	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:187419849G>T	ENST00000358241.1	-	1	496	c.68C>A	c.(67-69)cCa>cAa	p.P23Q		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	23					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCTGTCCGCTGGCTTTGCCAC	0.577000													116	157					1.85156e-62	3.30784e-62	0.014410	1	0
PPP3CC	5533	broad.mit.edu	37	8	22333113	22333113	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:22333113G>T	ENST00000240139.5	+	3	675	c.348G>T	c.(346-348)gtG>gtT	p.V116V	PPP3CC_ENST00000518852.1_Silent_p.V116V|PPP3CC_ENST00000289963.8_Silent_p.V116V|PPP3CC_ENST00000397775.3_Silent_p.V116V	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	116					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTGACTATGTGGACAGAGGCT	0.353000													17	42					4.14922e-12	5.39495e-12	0.004007	1	0
DDX10	1662	broad.mit.edu	37	11	108535976	108535976	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:108535976C>T	ENST00000526794.1	+	1	128	c.96C>T	c.(94-96)aaC>aaT	p.N32N	DDX10_ENST00000322536.3_Silent_p.N32N			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	32							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ATAGGCAGAACAAAAAGAAGC	0.562000			T	NUP98	AML*								23	15					0	0	0.016522	0	0
POTEE	445582	broad.mit.edu	37	2	132021759	132021759	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:132021759G>A	ENST00000356920.5	+	15	2825	c.2731G>A	c.(2731-2733)Gac>Aac	p.D911N	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	911	Actin-like.						ATP binding										AATCGTGCGTGACATCAAAGA	0.597000													26	279					0	0	0.004878	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953665	72953665	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:72953665G>C	ENST00000421285.3	+	8	625	c.625G>C	c.(625-627)Gcg>Ccg	p.A209P		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	209										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGGAGCGGGCGCTGCTGAA	0.592000													26	210					0	0	0.012213	0	0
UXT	8409	broad.mit.edu	37	X	47518287	47518287	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47518287C>A	ENST00000335890.2	-	1	229	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	UXT_ENST00000333119.3_Missense_Mutation_p.G14W|RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	14					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						ACTTTCTCCCCCGTGGCCTCC	0.652000													10	26					1.08611e-07	1.2488e-07	0.010729	1	0
OR52E6	390078	broad.mit.edu	37	11	5862774	5862774	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:5862774C>G	ENST00000329322.5	-	1	353	c.354G>C	c.(352-354)gtG>gtC	p.V118V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.V122V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCATGGCCACCAATACGA	0.453000													58	107					0	0	0.014410	0	0
DALRD3	55152	broad.mit.edu	37	3	49055271	49055271	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:49055271C>G	ENST00000341949.4	-	3	499	c.493G>C	c.(493-495)Gat>Cat	p.D165H	DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.D165H|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000313778.5_5'UTR	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	165					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGTGCGGATCCCGCACAGCT	0.672000													7	29					0	0	0.001984	0	0
GDF7	151449	broad.mit.edu	37	2	20871124	20871124	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:20871124C>T	ENST00000272224.3	+	2	1868	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	431					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGACGCCGCCAACAACGTT	0.662000													13	20					0	0	0.001855	0	0
CDH4	1002	broad.mit.edu	37	20	60511869	60511869	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:60511869C>G	ENST00000360469.5	+	16	2707	c.2619C>G	c.(2617-2619)agC>agG	p.S873R	CDH4_ENST00000543233.1_Missense_Mutation_p.S799R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	873	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGAGGGGAGCGGCTCCACCG	0.622000													13	41					0	0	0.001855	0	0
OTOP2	92736	broad.mit.edu	37	17	72926573	72926573	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:72926573T>A	ENST00000331427.4	+	6	935	c.843T>A	c.(841-843)ccT>ccA	p.P281P	OTOP2_ENST00000580223.1_Silent_p.P281P	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	281						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCCAACCCCTGTCAGCCTCT	0.582000													103	94					0	0	0.014410	0	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			21	93					1.85244e-09	2.23619e-09	0.003330	1	0
OR8H3	390152	broad.mit.edu	37	11	55890481	55890481	+	Silent	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55890481T>G	ENST00000313472.3	+	1	633	c.633T>G	c.(631-633)ctT>ctG	p.L211L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGTGTCCCTTATCACAATAT	0.433000													19	93					0	0	0.010504	0	0
PORCN	64840	broad.mit.edu	37	X	48374126	48374126	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:48374126G>T	ENST00000367574.4	+	9	1227	c.722G>T	c.(721-723)cGc>cTc	p.R241L	PORCN_ENST00000359882.4_Missense_Mutation_p.R317L|PORCN_ENST00000537758.1_Missense_Mutation_p.R323L|PORCN_ENST00000361988.3_Missense_Mutation_p.R312L|PORCN_ENST00000355961.4_Missense_Mutation_p.R318L|PORCN_ENST00000355092.3_Missense_Mutation_p.R317L|PORCN_ENST00000326194.6_Missense_Mutation_p.R323L			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	323					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATGCTCTCCGCCTGGGGACC	0.592000													21	54					5.35356e-11	6.72518e-11	0.016522	1	0
FAT3	120114	broad.mit.edu	37	11	92087170	92087170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:92087170G>T	ENST00000298047.6	+	1	1909	c.1892G>T	c.(1891-1893)gGt>gTt	p.G631V	FAT3_ENST00000525166.1_Missense_Mutation_p.G481V|FAT3_ENST00000409404.2_Missense_Mutation_p.G631V|FAT3_ENST00000541502.1_Missense_Mutation_p.G631V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	631	Cadherin 6.				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)				CCAGATTCTGGTGTTTTACAG	0.373000										TCGA Ovarian(4;0.039)			15	10					1.49906e-05	1.61359e-05	0.002450	1	0
PTGDR	5729	broad.mit.edu	37	14	52735243	52735243	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:52735243C>A	ENST00000306051.2	+	1	813	c.711C>A	c.(709-711)cgC>cgA	p.R237R	PTGDR_ENST00000553372.1_Silent_p.R237R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	237						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)	GGCACCCGCGCTCCTGCACCA	0.706000													36	66					1.45844e-13	1.95336e-13	0.013726	1	0
FAR2	55711	broad.mit.edu	37	12	29474843	29474843	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:29474843C>A	ENST00000182377.4	+	10	1511	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	FAR2_ENST00000547116.1_Missense_Mutation_p.P318T|FAR2_ENST00000536681.2_Missense_Mutation_p.P415T	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	415					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGAGCTGAGTCCTGAAGACCA	0.403000													23	38					1.28384e-07	1.47008e-07	0.012319	1	0
SLC6A19	340024	broad.mit.edu	37	5	1219182	1219182	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:1219182C>T	ENST00000304460.10	+	9	1394	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	446					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCAGGACCTCAGAGTCATCC	0.607000													11	81					0	0	0.008291	0	0
SCG3	29106	broad.mit.edu	37	15	51988091	51988091	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:51988091A>T	ENST00000220478.3	+	8	1291	c.888A>T	c.(886-888)aaA>aaT	p.K296N	SCG3_ENST00000542355.2_Missense_Mutation_p.K64N	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	296					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CAAAAGAGAAAGAAACACTGA	0.333000													23	39					0	0	0.016522	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928286	92928286	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:92928286A>T	ENST00000373079.3	-	1	281	c.18T>A	c.(16-18)ttT>ttA	p.F6L	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	6					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGACCATTTTAAAATCTGCTT	0.537000													7	28					0	0	0.004482	0	0
LGR4	55366	broad.mit.edu	37	11	27393872	27393872	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:27393872C>T	ENST00000379214.4	-	16	1896	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	LGR4_ENST00000389858.4_Missense_Mutation_p.E461K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	485						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTGTTATCTTCTGTGTTTAAA	0.383000													35	69					0	0	0.005524	0	0
PPEF2	5470	broad.mit.edu	37	4	76781940	76781940	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:76781940G>A	ENST00000286719.7	-	17	2498	c.2142C>T	c.(2140-2142)atC>atT	p.I714I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	714	EF-hand 3.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAACTCATTGATATCAATGT	0.488000													13	26					0	0	0.013537	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044614	9044614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:9044614G>T	ENST00000382496.5	-	22	3641	c.2976C>A	c.(2974-2976)taC>taA	p.Y992*	CTD-2215L10.1_ENST00000506519.1_RNA	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	992					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						ACCGCTGGCAGTAAGTATAGA	0.557000													62	222					2.02627e-32	3.39645e-32	0.014410	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81058316	81058316	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:81058316A>C	ENST00000334512.5	+	15	2217	c.1645A>C	c.(1645-1647)Agc>Cgc	p.S549R		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	549	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCAAATATGAGCGCTCTGCC	0.672000													25	70					0	0	0.006320	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970908	101970908	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:101970908G>T	ENST00000543253.1	+	5	2030	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371Y|GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAAGATGTTGACAGTGATAG	0.488000													25	23					4.81078e-24	7.59489e-24	0.016522	1	0
GPR148	344561	broad.mit.edu	37	2	131487482	131487482	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:131487482G>T	ENST00000309926.4	+	1	840	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	253						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCATCTGGGGGCAGGGCTAT	0.567000													27	144					1.26454e-06	1.41309e-06	0.005443	1	0
LVRN	206338	broad.mit.edu	37	5	115338575	115338575	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:115338575A>T	ENST00000357872.4	+	11	1988	c.1864A>T	c.(1864-1866)Aca>Tca	p.T622S	AQPEP_ENST00000395528.2_Missense_Mutation_p.T139S	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		622					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAATGGAACTACACAACCTTT	0.289000													8	8					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454385	110454385	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:110454385G>T	ENST00000378402.5	+	35	4458	c.4354G>T	c.(4354-4356)Ggc>Tgc	p.G1452C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1452	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTTATGATGGCAAAGGATT	0.393000										HNSCC(38;0.096)			19	30					2.4624e-09	2.96607e-09	0.008871	1	0
DCC	1630	broad.mit.edu	37	18	51013247	51013247	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:51013247C>A	ENST00000442544.2	+	26	4433	c.3817C>A	c.(3817-3819)Ccc>Acc	p.P1273T	DCC_ENST00000581580.1_Missense_Mutation_p.P908T|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1273					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGTGGATATCCCCACCCGCA	0.547000													62	50					1.41401e-22	2.18279e-22	0.014410	1	0
LILRA6	79168	broad.mit.edu	37	19	54745467	54745467	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:54745467C>T	ENST00000440558.2	-	4	691	c.643G>A	c.(643-645)Gag>Aag	p.E215K	LILRA6_ENST00000245621.5_Missense_Mutation_p.E215K|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.E215K|LILRA6_ENST00000270464.5_Missense_Mutation_p.E215K|LILRA6_ENST00000396365.2_Missense_Mutation_p.E215K					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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)		GGCAGAATCTCCAGGGGGTCA	0.592000													60	70					0	0	0.014410	0	0
SPEF2	79925	broad.mit.edu	37	5	35641643	35641643	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:35641643G>T	ENST00000440995.2	+	3	272	c.272G>T	c.(271-273)gGg>gTg	p.G91V	SPEF2_ENST00000282469.6_Missense_Mutation_p.G91V|SPEF2_ENST00000509059.1_Missense_Mutation_p.G91V|SPEF2_ENST00000356031.3_Missense_Mutation_p.G91V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	91	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAAGCCTGGGGTGGCAACA	0.438000													60	40					3.40343e-31	5.62855e-31	0.014410	1	0
ATG2B	55102	broad.mit.edu	37	14	96788934	96788934	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:96788934T>C	ENST00000359933.4	-	17	3572	c.2679A>G	c.(2677-2679)ctA>ctG	p.L893L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	893										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTGGTCTTCTTAGATCACAAA	0.398000													3	23					0	0	0.004672	0	0
FRG1	2483	broad.mit.edu	37	4	190878567	190878567	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:190878567G>T	ENST00000226798.4	+	6	669	c.447G>T	c.(445-447)ttG>ttT	p.L149F	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	149					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATGGCTTTGTTGGCCTCAA	0.363000													6	10					1.26484e-09	1.53019e-09	0.003080	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144245002	144245002	+	Nonsense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:144245002T>G	ENST00000295095.6	+	9	931	c.764T>G	c.(763-765)tTa>tGa	p.L255*	RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	255					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAAGCAGATTAAAGAAGTTT	0.343000													70	53					0	0	0.014410	0	0
FAM65C	140876	broad.mit.edu	37	20	49211133	49211133	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:49211133G>C	ENST00000327979.2	-	17	2568	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L	FAM65C_ENST00000535356.1_Missense_Mutation_p.F723L|FAM65C_ENST00000045083.2_Missense_Mutation_p.F719L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	719										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTGTGCTGGAAGGTTTTCT	0.592000													20	99					0	0	0.007413	0	0
UNC5A	90249	broad.mit.edu	37	5	176295567	176295567	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:176295567C>A	ENST00000329542.4	+	4	716	c.442C>A	c.(442-444)Cgc>Agc	p.R148S	UNC5A_ENST00000261961.3_Missense_Mutation_p.R108S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	148					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTAGATTTGCGCAAGAACTT	0.642000													6	3					0.00116845	0.00120975	0.001168	1	0
GPR64	10149	broad.mit.edu	37	X	19045378	19045378	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:19045378C>A	ENST00000379878.3	-	10	622	c.381G>T	c.(379-381)acG>acT	p.T127T	GPR64_ENST00000379873.2_Silent_p.T143T|GPR64_ENST00000340581.3_Silent_p.T113T|GPR64_ENST00000357991.3_Silent_p.T140T|GPR64_ENST00000379869.3_Silent_p.T143T|GPR64_ENST00000360279.4_Silent_p.T121T|GPR64_ENST00000379876.1_Silent_p.T119T|GPR64_ENST00000356606.4_Silent_p.T129T|GPR64_ENST00000354791.3_Silent_p.T127T|GPR64_ENST00000357544.3_Silent_p.T113T	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	143					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGTGCCATTCGTTATATGTT	0.318000													37	93					3.21399e-22	4.92724e-22	0.004878	1	0
DCDC1	341019	broad.mit.edu	37	11	30937253	30937253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:30937253G>T	ENST00000597505.1	-	25	3457	c.3458C>A	c.(3457-3459)tCa>tAa	p.S1153*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.S232*|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGCTTTGGTGAACAGCTGAG	0.423000													11	17					3.07112e-06	3.38096e-06	0.010729	1	0
UIMC1	51720	broad.mit.edu	37	5	176370372	176370372	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:176370372C>T	ENST00000377219.2	-	10	1727	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Missense_Mutation_p.A355T|UIMC1_ENST00000377227.4_Missense_Mutation_p.A521T|UIMC1_ENST00000511320.1_Missense_Mutation_p.A521T	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	521	Zinc-finger-like region.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTACATGGCATGTCGTTCA	0.443000													92	71					0	0	0.014410	0	0
COL28A1	340267	broad.mit.edu	37	7	7476025	7476025	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:7476025C>A	ENST00000399429.3	-	23	2001		c.e23+1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ATAAAGCATACCTTTGGTCCT	0.358000													12	25					1.49906e-05	1.61359e-05	0.002450	1	0
SIDT1	54847	broad.mit.edu	37	3	113285295	113285295	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:113285295G>T	ENST00000264852.4	+	2	977	c.251G>T	c.(250-252)aGt>aTt	p.S84I	SIDT1_ENST00000393830.3_Missense_Mutation_p.S84I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	84						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TATGTGAACAGTTCCTCTGAG	0.517000													56	40					1.15193e-12	1.51728e-12	0.014410	1	0
PPP1R18	170954	broad.mit.edu	37	6	30653695	30653695	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:30653695G>A	ENST00000274853.3	-	1	1977	c.101C>T	c.(100-102)tCc>tTc	p.S34F	PPP1R18_ENST00000399199.3_Missense_Mutation_p.S34F|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	34						cytoplasm|cytoskeleton	actin binding										TGGCATCTGGGACAGGCGCTC	0.672000													43	134					0	0	0.008740	0	0
TJP2	9414	broad.mit.edu	37	9	71863027	71863027	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:71863027G>A	ENST00000377245.4	+	19	2975	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	TJP2_ENST00000265384.7_Missense_Mutation_p.E923K|TJP2_ENST00000453658.2_Missense_Mutation_p.E900K|TJP2_ENST00000348208.4_Missense_Mutation_p.E923K|TJP2_ENST00000539225.1_Missense_Mutation_p.E954K|TJP2_ENST00000535702.1_Missense_Mutation_p.E927K	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	923					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAGTGACTTTGAAGACACGGA	0.602000													32	29					0	0	0.012213	0	0
NOL6	65083	broad.mit.edu	37	9	33464892	33464892	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:33464892T>A	ENST00000379471.2	-	21	2851	c.2764A>T	c.(2764-2766)Aat>Tat	p.N922Y	NOL6_ENST00000455041.2_Missense_Mutation_p.N870Y|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	922					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCTCATTATTGAGGTTGACA	0.478000													47	45					0	0	0.014410	0	0
ABL1	25	broad.mit.edu	37	9	133730335	133730335	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:133730335G>T	ENST00000318560.5	+	3	782	c.401G>T	c.(400-402)cGc>cTc	p.R134L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	134	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCTGTGTCCCGCAATGCCGCT	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								44	20					6.5261e-18	9.3482e-18	0.008740	1	0
CAD	790	broad.mit.edu	37	2	27455010	27455010	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:27455010G>T	ENST00000264705.4	+	17	2725	c.2563G>T	c.(2563-2565)Gga>Tga	p.G855*	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Nonsense_Mutation_p.G792*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	855	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACAACACCGTGGACAGCCTTT	0.557000													28	61					3.73988e-18	5.40583e-18	0.006320	1	0
OR5L1	219437	broad.mit.edu	37	11	55579307	55579307	+	Missense_Mutation	SNP	G	G	T	rs112907233	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55579307G>T	ENST00000333973.2	+	1	454	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522000													56	74					1.4374e-25	2.30855e-25	0.014410	1	0
ZNF549	256051	broad.mit.edu	37	19	58050072	58050072	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:58050072G>T	ENST00000376233.3	+	4	1881	c.1700G>T	c.(1699-1701)aGa>aTa	p.R567I	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R554I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATGCTTTAGACACCGCACC	0.448000													24	21					1.10923e-09	1.34485e-09	0.016522	1	0
MDN1	23195	broad.mit.edu	37	6	90382967	90382967	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:90382967C>G	ENST00000369393.3	-	80	13577	c.13462G>C	c.(13462-13464)Gat>Cat	p.D4488H	MDN1_ENST00000428876.1_Missense_Mutation_p.D4488H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4488					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTTGGCTATCTGAAGTAAGC	0.393000													32	49					0	0	0.013726	0	0
MGA	23269	broad.mit.edu	37	15	42040946	42040946	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:42040946G>T	ENST00000219905.7	+	16	5505	c.5324G>T	c.(5323-5325)aGa>aTa	p.R1775I	MGA_ENST00000389936.4_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.R1566I|MGA_ENST00000570161.1_Missense_Mutation_p.R1775I|MGA_ENST00000545763.1_Missense_Mutation_p.R1566I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1763						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCTACTCTTAGACCTGTCTCA	0.488000													23	49					3.08376e-08	3.61668e-08	0.003330	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33684008	33684008	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:33684008C>A	ENST00000504830.1	-	4	1122	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263W|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCTCACTCCCATGGTATTCA	0.512000										HNSCC(64;0.19)			42	233					2.64894e-19	3.91018e-19	0.014410	1	0
NUP210	23225	broad.mit.edu	37	3	13395161	13395161	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:13395161C>A	ENST00000254508.5	-	18	2604		c.e18-1			NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCTGCAAACCTGAGACCAGG	0.547000													37	27					1.06647e-15	1.48745e-15	0.003755	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184606267	184606267	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:184606267G>T	ENST00000334690.6	+	16	1800	c.1598G>T	c.(1597-1599)cGg>cTg	p.R533L	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.R139L|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.R533L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	533																	CAGAAGTCTCGGATAGAAAAG	0.299000													12	27					4.3838e-07	4.96861e-07	0.001855	1	0
SNHG14	104472715	broad.mit.edu	37	15	25465666	25465666	+	RNA	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:25465666A>G	ENST00000424208.1	+	0	3039				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						AGAACCTTATATTGTCCTGAA	0.517000													82	132					0	0	0.014410	0	0
IPO8	10526	broad.mit.edu	37	12	30783815	30783815	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:30783815C>A	ENST00000256079.4	-	25	3431	c.3093G>T	c.(3091-3093)ggG>ggT	p.G1031G	IPO8_ENST00000544829.1_Silent_p.G826G	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1031					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGGCACAGTCCCAAAATTAA	0.428000													40	61					5.34276e-22	8.13473e-22	0.014410	1	0
EBF1	1879	broad.mit.edu	37	5	158139337	158139337	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:158139337G>A	ENST00000313708.6	-	14	1656	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Silent_p.F427F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	458					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTGCGGGTGAAACCTGAGG	0.592000			T	HMGA2	lipoma								6	16					0	0	0.001168	0	0
CECR2	27443	broad.mit.edu	37	22	18028647	18028647	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:18028647G>A	ENST00000262608.8	+	16	3607	c.3607G>A	c.(3607-3609)Gga>Aga	p.G1203R	CECR2_ENST00000400573.4_Missense_Mutation_p.G1202R|CECR2_ENST00000400585.2_Missense_Mutation_p.G1060R	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1244					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AAGCCCAAGCGGACCCCCAGC	0.562000													6	67					0	0	0.001168	0	0
TG	7038	broad.mit.edu	37	8	133984884	133984884	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:133984884C>A	ENST00000220616.4	+	34	6137	c.6097C>A	c.(6097-6099)Cag>Aag	p.Q2033K	TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.Q1976K|TG_ENST00000542445.1_Missense_Mutation_p.Q403K|TG_ENST00000519543.1_Missense_Mutation_p.Q187K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2033					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTGGGAATTCAGATGTGCAG	0.478000													36	111					1.06647e-15	1.48745e-15	0.003755	1	0
CPM	1368	broad.mit.edu	37	12	69265575	69265575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:69265575G>T	ENST00000551568.1	-	4	480	c.420C>A	c.(418-420)taC>taA	p.Y140*	CPM_ENST00000546373.1_Nonsense_Mutation_p.Y140*|CPM_ENST00000338356.3_Nonsense_Mutation_p.Y140*	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	140					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCCGATGCTGTAATAACAGT	0.463000													12	174					9.31168e-06	1.01111e-05	0.001855	1	0
C1orf198	84886	broad.mit.edu	37	1	230979618	230979618	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:230979618C>T	ENST00000366663.5	-	3	549	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	C1orf198_ENST00000523410.1_Missense_Mutation_p.A7T|C1orf198_ENST00000470540.1_Missense_Mutation_p.A99T|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	137										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATGGATAGGGCGGAGATACTG	0.577000													52	125					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78443869	78443869	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:78443869A>T	ENST00000397909.2	+	10	2293	c.2120A>T	c.(2119-2121)cAg>cTg	p.Q707L	NAV3_ENST00000228327.6_Missense_Mutation_p.Q707L|NAV3_ENST00000266692.7_Missense_Mutation_p.Q707L|NAV3_ENST00000536525.2_Missense_Mutation_p.Q707L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	707						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						CGTGGGACTCAGATAAGCCAC	0.338000										HNSCC(70;0.22)			15	18					0	0	0.003163	0	0
GABRB1	2560	broad.mit.edu	37	4	47034501	47034501	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:47034501G>A	ENST00000295454.3	+	3	532	c.240_splice	c.e3+1	p.M80_splice	GABRB1_ENST00000538619.1_Intron|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	80					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTGAATATGGTGAGTGGCC	0.622000													73	118					0	0	0.014410	0	0
FUT9	10690	broad.mit.edu	37	6	96651316	96651316	+	Silent	SNP	G	G	T	rs145042649	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:96651316G>T	ENST00000302103.5	+	3	611	c.285G>T	c.(283-285)acG>acT	p.T95T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	95					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCTCACAACGGACCGTTCAC	0.483000													30	56					1.39649e-27	2.27235e-27	0.012213	1	0
WDR49	151790	broad.mit.edu	37	3	167218013	167218013	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:167218013G>T	ENST00000308378.3	-	14	2208	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	WDR49_ENST00000476376.1_Missense_Mutation_p.P460T|WDR49_ENST00000453925.2_Missense_Mutation_p.P600T|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	635										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATTTCTCAGGGTCTAGAAGG	0.438000													95	212					2.68873e-43	4.67587e-43	0.014410	1	0
OTUD6B	51633	broad.mit.edu	37	8	92090777	92090777	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:92090777A>T	ENST00000285420.4	+	4	698	c.599A>T	c.(598-600)aAg>aTg	p.K200M	OTUD6B_ENST00000404789.3_Missense_Mutation_p.K69M	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	170	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CTGAAAGAAAAGGATTGTGCT	0.393000													4	12					0	0	0.014758	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27820247	27820247	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:27820247C>T	ENST00000318304.8	+	13	1474	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	PPFIBP1_ENST00000537927.1_Silent_p.P244P|PPFIBP1_ENST00000542629.1_Silent_p.P366P|PPFIBP1_ENST00000228425.6_Silent_p.P380P	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	397					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAGTGTTCCCGAAGAGGTAT	0.408000													5	77					0	0	0.014758	0	0
GIT1	28964	broad.mit.edu	37	17	27905753	27905753	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:27905753T>A	ENST00000225394.3	-	8	1054	c.806A>T	c.(805-807)cAg>cTg	p.Q269L	GIT1_ENST00000394869.3_Missense_Mutation_p.Q278L|GIT1_ENST00000581348.1_Missense_Mutation_p.Q278L|GIT1_ENST00000579937.1_Missense_Mutation_p.Q269L|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	269	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTTACCGCCTGCAGCTTCTT	0.572000													92	117					0	0	0.014410	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464733	5464733	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:5464733G>T	ENST00000296564.7	+	13	5508	c.5286G>T	c.(5284-5286)agG>agT	p.R1762S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1762										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TATCTGCCAGGGCCCGGACCC	0.542000													16	53					6.31663e-08	7.33098e-08	0.003163	1	0
CUX2	23316	broad.mit.edu	37	12	111785741	111785741	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:111785741G>T	ENST00000261726.6	+	22	4227	c.4073G>T	c.(4072-4074)tGt>tTt	p.C1358F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1358	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACCCCAGACTGTCCCTCACTT	0.607000													39	194					3.43241e-23	5.35803e-23	0.009718	1	0
TMEM260	54916	broad.mit.edu	37	14	57099808	57099808	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:57099808T>G	ENST00000261556.6	+	13	1765	c.1643T>G	c.(1642-1644)gTt>gGt	p.V548G	TMEM260_ENST00000536419.1_Missense_Mutation_p.V82G|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		GACAAATTAGTTCCTTTGGAG	0.378000													8	22					0	0	0.004482	0	0
SLC2A14	144195	broad.mit.edu	37	12	7981412	7981412	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7981412T>C	ENST00000543909.1	-	11	1392	c.633A>G	c.(631-633)ctA>ctG	p.L211L	SLC2A14_ENST00000539924.1_Silent_p.L226L|SLC2A14_ENST00000396589.2_Silent_p.L211L|SLC2A14_ENST00000340749.5_Silent_p.L188L|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Silent_p.L102L|SLC2A14_ENST00000542546.1_Silent_p.L102L|SLC2A14_ENST00000431042.2_Silent_p.L188L			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	211					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAAAGCCTAATAGCACCGGCC	0.453000													41	71					0	0	0.007835	0	0
CD163	9332	broad.mit.edu	37	12	7651466	7651466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7651466G>T	ENST00000359156.4	-	4	978	c.776C>A	c.(775-777)tCa>tAa	p.S259*	CD163_ENST00000541972.1_Nonsense_Mutation_p.S247*|CD163_ENST00000396620.3_Nonsense_Mutation_p.S259*|CD163_ENST00000432237.2_Nonsense_Mutation_p.S259*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	259	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTCCTTACTTGAGCAAATCAC	0.418000													73	140					2.10938e-32	3.53044e-32	0.014410	1	0
FAM83A	84985	broad.mit.edu	37	8	124204147	124204147	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:124204147G>T	ENST00000518448.1	+	3	2599	c.585G>T	c.(583-585)caG>caT	p.Q195H	FAM83A_ENST00000276699.6_Missense_Mutation_p.Q195H|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Missense_Mutation_p.Q195H|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q195H|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	195										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCTGGACCAGGGAGGTGTGA	0.517000													91	141					1.99829e-37	3.43756e-37	0.014410	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969261	140969261	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:140969261C>G	ENST00000298296.1	+	4	588	c.588C>G	c.(586-588)ctC>ctG	p.L196L	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	196	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTCTTCTCCTCAAATATC	0.453000													69	71					0	0	0.014410	0	0
PCDH8	5100	broad.mit.edu	37	13	53421533	53421533	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:53421533C>A	ENST00000377942.3	-	1	1242	c.1039G>T	c.(1039-1041)Gtc>Ttc	p.V347F	PCDH8_ENST00000338862.4_Missense_Mutation_p.V347F	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	347	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGTCATTGACGTCTCGGATG	0.726000													11	15					5.50884e-06	6.00523e-06	0.013537	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75552552	75552552	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:75552552G>T	ENST00000604729.1	+	10	2552	c.2255G>T	c.(2254-2256)gGg>gTg	p.G752V	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G752V|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G752V|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G719V|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G752V|ZSWIM8_ENST00000431225.1_3'UTR					zinc finger, SWIM-type containing 8																		GGCGGGGCTGGGGAGGAGCAC	0.632000													19	82					1.00905e-13	1.35636e-13	0.008871	1	0
FSHB	2488	broad.mit.edu	37	11	30255208	30255208	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:30255208G>T	ENST00000417547.1	+	3	290	c.251G>T	c.(250-252)tGt>tTt	p.C84F	FSHB_ENST00000533718.1_Missense_Mutation_p.C84F|FSHB_ENST00000254122.3_Missense_Mutation_p.C84F	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	84					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTGCCCGGCTGTGCTCACCAT	0.522000													24	44					2.50493e-22	3.85081e-22	0.004656	1	0
WDR72	256764	broad.mit.edu	37	15	53997389	53997389	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:53997389C>T	ENST00000396328.1	-	11	1383	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	WDR72_ENST00000557913.1_Missense_Mutation_p.D379N|WDR72_ENST00000360509.5_Missense_Mutation_p.D382N|WDR72_ENST00000559418.1_Missense_Mutation_p.D392N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	382										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATGCTTATCAAAATTATCT	0.353000													7	61					0	0	0.001984	0	0
NR0B1	190	broad.mit.edu	37	X	30326398	30326398	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:30326398G>C	ENST00000378970.4	-	1	1317	c.1083C>G	c.(1081-1083)atC>atG	p.I361M	NR0B1_ENST00000378963.1_Missense_Mutation_p.I66M|NR0B1_ENST00000453287.1_Missense_Mutation_p.I361M	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	361	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAAAGCACTTGATGGCTTGGA	0.622000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	51					0	0	0.010818	0	0
CACNA1F	778	broad.mit.edu	37	X	49067055	49067055	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:49067055A>C	ENST00000376265.2	-	38	4574	c.4513T>G	c.(4513-4515)Tgc>Ggc	p.C1505G	CACNA1F_ENST00000323022.5_Missense_Mutation_p.C1494G|CACNA1F_ENST00000376251.1_Missense_Mutation_p.C1440G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1505					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CAGACCTTGCAGGCCACTCGG	0.612000													10	16					0	0	0.006214	0	0
GDF3	9573	broad.mit.edu	37	12	7843193	7843193	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7843193G>T	ENST00000329913.3	-	2	423	c.376C>A	c.(376-378)Cag>Aag	p.Q126K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	126					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGCCCAGCTGGGCCAATGTC	0.522000													38	96					2.19962e-31	3.64856e-31	0.008740	1	0
FGFRL1	53834	broad.mit.edu	37	4	1018205	1018205	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:1018205G>T	ENST00000398484.2	+	7	1405	c.825G>T	c.(823-825)aaG>aaT	p.K275N	FGFRL1_ENST00000510644.1_Missense_Mutation_p.K275N|FGFRL1_ENST00000504138.1_Missense_Mutation_p.K275N|FGFRL1_ENST00000264748.6_Missense_Mutation_p.K275N			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	275	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGACGTGAAGCCGGTGATCC	0.667000													50	133					3.76525e-18	5.43544e-18	0.014410	1	0
MTMR11	10903	broad.mit.edu	37	1	149905396	149905396	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:149905396C>G	ENST00000439741.2	-	10	1138	c.888G>C	c.(886-888)ggG>ggC	p.G296G	MTMR11_ENST00000406732.3_Silent_p.G268G|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.G224G|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	296	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CATCTGAATGCCCAGCCTGGA	0.562000													32	74					0	0	0.009535	0	0
FSTL5	56884	broad.mit.edu	37	4	162697208	162697208	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:162697208G>A	ENST00000306100.5	-	5	864	c.428C>T	c.(427-429)aCt>aTt	p.T143I	FSTL5_ENST00000536695.1_Missense_Mutation_p.T142I|FSTL5_ENST00000379164.4_Missense_Mutation_p.T142I|FSTL5_ENST00000427802.2_Missense_Mutation_p.T142I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	143						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCTGTATTCAGTAGTCTTGCA	0.264000													7	4					0	0	0.001984	0	0
WDR60	55112	broad.mit.edu	37	7	158734681	158734681	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:158734681G>T	ENST00000407559.3	+	24	3002	c.2844G>T	c.(2842-2844)tgG>tgT	p.W948C		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	948										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTGCAGTGGGACAGCAGCA	0.612000													26	15					1.64293e-13	2.19255e-13	0.003330	1	0
TBC1D4	9882	broad.mit.edu	37	13	75936394	75936394	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:75936394C>G	ENST00000377636.3	-	2	1194	c.848G>C	c.(847-849)gGg>gCg	p.G283A	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G283A|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G283A	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	283						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGCTGGCCCCGGCAGGTAA	0.652000													23	17					0	0	0.016522	0	0
GPC6	10082	broad.mit.edu	37	13	95050774	95050774	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:95050774G>T	ENST00000377047.4	+	8	1959	c.1344G>T	c.(1342-1344)gaG>gaT	p.E448D		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	448						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACAATCCCGAGGTGGATGTGG	0.488000													18	60					2.35188e-11	2.99845e-11	0.006122	1	0
ITSN1	6453	broad.mit.edu	37	21	35124113	35124113	+	Splice_Site	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:35124113A>C	ENST00000381318.3	+	7	814		c.e7-1		AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000399338.4_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTATTTTTACAGCAGCCACAT	0.343000													14	21					0	0	0.002450	0	0
UNC13C	440279	broad.mit.edu	37	15	54860111	54860111	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:54860111G>C	ENST00000545554.1	+	29	6072	c.6072G>C	c.(6070-6072)ttG>ttC	p.L2024F	UNC13C_ENST00000537900.1_Missense_Mutation_p.L2022F|UNC13C_ENST00000260323.11_Missense_Mutation_p.L2024F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2024	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGATGCCTTGATAAAGAAAT	0.353000													4	7					0	0	0.001168	0	0
TUFM	7284	broad.mit.edu	37	16	28857418	28857418	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:28857418G>T	ENST00000313511.3	-	2	200	c.62C>A	c.(61-63)gCc>gAc	p.A21D		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	18						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGTCCGGCCGGCGGCGAGACC	0.662000													13	32					1.49906e-05	1.61359e-05	0.002450	1	0
ZNF554	115196	broad.mit.edu	37	19	2832341	2832341	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:2832341G>T	ENST00000317243.5	+	4	492	c.294G>T	c.(292-294)gaG>gaT	p.E98D	ZNF554_ENST00000591265.1_Missense_Mutation_p.E98D	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATTAAAGAGGGTCCACTTT	0.413000													71	44					5.96624e-29	9.76534e-29	0.014410	1	0
MYF6	4618	broad.mit.edu	37	12	81101564	81101564	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:81101564G>T	ENST00000228641.3	+	1	288	c.66G>T	c.(64-66)ctG>ctT	p.L22L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	22					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ATGTTACTCTGCAGCCATTAG	0.517000													40	81					2.75727e-19	4.06469e-19	0.004878	1	0
CARS2	79587	broad.mit.edu	37	13	111353784	111353784	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:111353784C>A	ENST00000257347.4	-	3	457		c.e3+1		CARS2_ENST00000535398.1_Splice_Site	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TCTCCACTTACCTCATTGGCT	0.423000													8	62					2.80697e-09	3.36655e-09	0.010729	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516438	140516438	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140516438C>A	ENST00000231134.5	+	1	1639	c.1422C>A	c.(1420-1422)gcC>gcA	p.A474A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		474	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTCAGCGCCACAGACAGAG	0.647000													137	86					4.11385e-52	7.25629e-52	0.014410	1	0
KCNV2	169522	broad.mit.edu	37	9	2717772	2717772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:2717772G>A	ENST00000382082.3	+	1	271	c.33G>A	c.(31-33)tgG>tgA	p.W11*		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	11						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACGGTCCTGGAGCTACAGGC	0.622000													18	73					0	0	0.006122	0	0
PURG	29942	broad.mit.edu	37	8	30889686	30889686	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:30889686C>A	ENST00000475541.1	-	1	1545	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PURG_ENST00000339382.2_Missense_Mutation_p.G205W	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	205						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ATGCCAGTCCCCCGCATCATG	0.458000													27	52					7.92952e-12	1.02504e-11	0.003954	1	0
ZP4	57829	broad.mit.edu	37	1	238049134	238049134	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:238049134C>T	ENST00000366570.4	-	7	1050	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	298	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACCTGGACATTGATTGGG	0.517000													17	48					0	0	0.004990	0	0
SF3B2	10992	broad.mit.edu	37	11	65823021	65823021	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:65823021C>T	ENST00000322535.6	+	5	563	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SF3B2_ENST00000528302.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	172					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGATCATTCGCTGAAGGAACA	0.478000													16	53					0	0	0.006122	0	0
ARSF	416	broad.mit.edu	37	X	2990163	2990163	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:2990163G>T	ENST00000381127.1	+	3	329	c.108G>T	c.(106-108)atG>atT	p.M36I	ARSF_ENST00000537104.1_Missense_Mutation_p.M36I|ARSF_ENST00000359361.2_Missense_Mutation_p.M36I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	36						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTAATCATGGTTGATGACC	0.507000													31	99					7.11191e-15	9.77229e-15	0.013726	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149206254	149206254	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:149206254G>T	ENST00000309241.5	+	3	303	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A66S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A91S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A91S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	91	Abolishes DNA transcriptional activity when missing.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGAGAATGAGGCCCTCCTGGC	0.577000													42	37					2.68985e-26	4.33885e-26	0.014410	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34028929	34028929	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:34028929G>A	ENST00000382065.3	-	4	1336	c.630C>T	c.(628-630)ttC>ttT	p.F210F	C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000231338.7_Silent_p.F137F	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	137	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAACACTGCTGAAGATAATCC	0.408000													18	69					0	0	0.004990	0	0
TMEM8A	58986	broad.mit.edu	37	16	422663	422663	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:422663C>G	ENST00000431232.2	-	12	2127	c.1967G>C	c.(1966-1968)tGg>tCg	p.W656S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.W463S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	656					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGCATGTTCCACATGCCCCT	0.612000													25	68					0	0	0.003954	0	0
SOST	50964	broad.mit.edu	37	17	41832894	41832894	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:41832894G>A	ENST00000301691.2	-	2	504	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	153	CTCK.				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CGCGCGCGGCGCCTCACCACC	0.716000													14	28					0	0	0.002450	0	0
KIF1A	547	broad.mit.edu	37	2	241700235	241700235	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:241700235G>T	ENST00000498729.2	-	25	2537	c.2291C>A	c.(2290-2292)aCg>aAg	p.T764K	KIF1A_ENST00000320389.7_Missense_Mutation_p.T755K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	755					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GAGTGTGTCCGTCAGGAGGAC	0.627000													19	16					2.89027e-11	3.66804e-11	0.014323	1	0
DOCK2	1794	broad.mit.edu	37	5	169174459	169174459	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:169174459C>T	ENST00000256935.8	+	23	2407	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	DOCK2_ENST00000520908.1_Missense_Mutation_p.S268F|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	776					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTTTGAATCCATCAACAAT	0.378000													11	12					0	0	0.010729	0	0
C12orf40	283461	broad.mit.edu	37	12	40076444	40076444	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:40076444C>A	ENST00000324616.5	+	8	872	c.718C>A	c.(718-720)Cct>Act	p.P240T	C12orf40_ENST00000405531.3_Missense_Mutation_p.P240T|C12orf40_ENST00000398716.1_Missense_Mutation_p.P163T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	240										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TACTAAAAGCCCTGCTGTAAT	0.323000													21	52					1.50039e-11	1.92167e-11	0.012319	1	0
MID1	4281	broad.mit.edu	37	X	10535483	10535483	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:10535483G>T	ENST00000317552.4	-	2	505	c.105C>A	c.(103-105)caC>caA	p.H35Q	MID1_ENST00000453318.2_Missense_Mutation_p.H35Q|MID1_ENST00000380785.1_Missense_Mutation_p.H35Q|MID1_ENST00000380782.2_Missense_Mutation_p.H35Q|MID1_ENST00000380779.1_Missense_Mutation_p.H35Q|MID1_ENST00000380787.1_Missense_Mutation_p.H35Q|MID1_ENST00000380780.1_Missense_Mutation_p.H35Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	35					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTAGGATGCGGTGGGCGCAGT	0.582000													35	97					4.3181e-19	6.3488e-19	0.013726	1	0
PEG3	5178	broad.mit.edu	37	19	57335848	57335848	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:57335848C>A	ENST00000326441.9	-	4	539	c.176G>T	c.(175-177)gGg>gTg	p.G59V	ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G59V|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	59	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCCGAGGCCCAACAAATTC	0.507000													49	34					6.61955e-31	1.09149e-30	0.014410	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122273442	122273442	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:122273442C>A	ENST00000398250.1	+	3	537	c.185C>A	c.(184-186)cCc>cAc	p.P62H	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.P62H|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P62H|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P52H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	62					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTCCTCACACCCCTGGCTGTT	0.413000													20	61					3.62473e-10	4.46275e-10	0.012319	1	0
CNTN2	6900	broad.mit.edu	37	1	205042313	205042313	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:205042313G>A	ENST00000331830.4	+	22	3246	c.2962G>A	c.(2962-2964)Ggg>Agg	p.G988R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	988	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCGGACCACAGGGCCCGGAGG	0.577000													34	58					0	0	0.013726	0	0
SYT7	9066	broad.mit.edu	37	11	61295597	61295597	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:61295597G>T	ENST00000263846.4	-	5	739	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	SYT7_ENST00000540677.1_Silent_p.R213R|SYT7_ENST00000539008.1_Silent_p.R421R|SYT7_ENST00000535826.1_Silent_p.R257R|SYT7_ENST00000542836.1_Silent_p.R182R|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Silent_p.R346R	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	138	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AACTGGATCCGGCCCAGGTTC	0.647000													21	52					3.51602e-12	4.58772e-12	0.008871	1	0
VCAM1	7412	broad.mit.edu	37	1	101196970	101196970	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:101196970T>C	ENST00000294728.2	+	6	1522	c.1421T>C	c.(1420-1422)aTt>aCt	p.I474T	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.I382T|VCAM1_ENST00000370119.4_Missense_Mutation_p.I412T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	474	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCCCTACCATTGAAGATACT	0.388000													21	16					0	0	0.010504	0	0
WDR86	349136	broad.mit.edu	37	7	151097211	151097211	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:151097211G>C	ENST00000334493.6	-	2	710	c.280C>G	c.(280-282)Cga>Gga	p.R94G	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.R94G	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	94										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGTCCTCGGTACACCTGC	0.612000													21	10					0	0	0.003330	0	0
COQ7	10229	broad.mit.edu	37	16	19083370	19083370	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:19083370G>T	ENST00000321998.5	+	2	260	c.194G>T	c.(193-195)cGc>cTc	p.R65L	COQ7_ENST00000569127.1_Missense_Mutation_p.R42L|COQ7_ENST00000544894.2_Missense_Mutation_p.R27L|COQ7_ENST00000568985.1_Missense_Mutation_p.R65L	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	65	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GGAGCAAACCGCATCTATGCC	0.542000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	75					3.51602e-12	4.58772e-12	0.008871	1	0
RPLP0P2	113157	broad.mit.edu	37	11	61404715	61404715	+	RNA	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:61404715C>G	ENST00000496593.1	+	0	1319					NR_002775.2																						CTGGGCTGGTCATCCAGCAGG	0.552000													22	30					0	0	0.003330	0	0
LRP2	4036	broad.mit.edu	37	2	170077068	170077068	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:170077068C>T	ENST00000263816.3	-	34	5829	c.5544G>A	c.(5542-5544)ttG>ttA	p.L1848L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1848					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGTGGAGTGTCAAAACCTATA	0.383000													4	26					0	0	0.009096	0	0
C1orf173	127254	broad.mit.edu	37	1	75039126	75039126	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:75039126G>T	ENST00000326665.5	-	14	2486	c.2268C>A	c.(2266-2268)aaC>aaA	p.N756K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	756	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGGATTCCTTGTTTGAGTTGA	0.403000													42	23					1.03325e-14	1.41452e-14	0.011902	1	0
MUC16	94025	broad.mit.edu	37	19	9059553	9059553	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:9059553T>C	ENST00000397910.4	-	3	28096	c.27893A>G	c.(27892-27894)gAg>gGg	p.E9298G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9300	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCTGGTCTCTTCAGAGAT	0.498000													94	55					0	0	0.014410	0	0
HYAL4	23553	broad.mit.edu	37	7	123508412	123508412	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:123508412C>A	ENST00000223026.4	+	3	723	c.85C>A	c.(85-87)Cta>Ata	p.L29I	HYAL4_ENST00000476325.1_Missense_Mutation_p.L29I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	29					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATTTTTTATTCTAAAGTCTAT	0.338000													36	35					3.93418e-24	6.21981e-24	0.004289	1	0
DPYSL5	56896	broad.mit.edu	37	2	27156125	27156125	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:27156125G>T	ENST00000288699.6	+	7	872		c.e7-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTGTTTAGACTCACTGTC	0.522000													18	54					3.99206e-14	5.41189e-14	0.007413	1	0
SBF2	81846	broad.mit.edu	37	11	10019821	10019821	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:10019821G>C	ENST00000256190.8	-	9	1104	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	323					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCAAAGAAAGAGCTGATTGA	0.333000													6	18					0	0	0.001168	0	0
REPS2	9185	broad.mit.edu	37	X	17095415	17095415	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:17095415A>T	ENST00000357277.3	+	13	1572	c.1401A>T	c.(1399-1401)atA>atT	p.I467I	REPS2_ENST00000303843.7_Silent_p.I466I|REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	467					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCACCTCCATAGAAGAGGCCA	0.498000													59	152					0	0	0.014410	0	0
SH2B1	25970	broad.mit.edu	37	16	28883302	28883302	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:28883302C>G	ENST00000337120.5	+	5	4802	c.1511C>G	c.(1510-1512)aCa>aGa	p.T504R	SH2B1_ENST00000395532.4_Missense_Mutation_p.T504R|SH2B1_ENST00000545570.1_Missense_Mutation_p.T194R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.T168R|SH2B1_ENST00000359285.5_Missense_Mutation_p.T504R|SH2B1_ENST00000322610.8_Missense_Mutation_p.T504R	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	504	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAACAGCCACAGGTACCGGA	0.642000													18	31					0	0	0.008871	0	0
F8	2157	broad.mit.edu	37	X	154128184	154128184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:154128184G>T	ENST00000360256.4	-	21	6430	c.6230C>A	c.(6229-6231)tCa>tAa	p.S2077*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2077	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCATTGATTGATCCGGAATA	0.418000													14	24					5.03518e-11	6.35392e-11	0.007413	1	0
ZNF773	374928	broad.mit.edu	37	19	58018445	58018445	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:58018445G>A	ENST00000282292.4	+	4	1122	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E327K	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCACACTGGAGAAAGACCTTA	0.428000													30	69					0	0	0.009535	0	0
PCNX	22990	broad.mit.edu	37	14	71576260	71576260	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:71576260G>T	ENST00000304743.2	+	35	7282	c.6836G>T	c.(6835-6837)gGg>gTg	p.G2279V	PCNX_ENST00000439984.3_Missense_Mutation_p.G2168V|PCNX_ENST00000238570.5_Missense_Mutation_p.G2207V|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2279						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAAAAGCTGGGAGAAATAGC	0.488000													8	31					5.4927e-09	6.53837e-09	0.004482	1	0
COL1A2	1278	broad.mit.edu	37	7	94049940	94049940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:94049940G>T	ENST00000297268.6	+	37	2746	c.2275G>T	c.(2275-2277)Gtt>Ttt	p.V759F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	759			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACAGGCCCCGTTGGAGCTGC	0.507000										HNSCC(75;0.22)			11	5					2.80697e-09	3.36655e-09	0.010729	1	0
TCTN1	79600	broad.mit.edu	37	12	111078323	111078323	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:111078323G>T	ENST00000551590.1	+	8	1134		c.e8+1		TCTN1_ENST00000377654.3_Splice_Site|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Splice_Site|TCTN1_ENST00000397659.4_Splice_Site			Q2MV58	TECT1_HUMAN	tectonic family member 1						multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGTTCTTGAGGTAGGTGCCGA	0.557000													27	26					9.39395e-14	1.26733e-13	0.006320	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64599136	64599136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:64599136C>A	ENST00000342711.5	-	28	3144	c.3145G>T	c.(3145-3147)Gag>Tag	p.E1049*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1049	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCCTCGCTCTCTGCCAGCAGC	0.692000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	23					4.7546e-09	5.67798e-09	0.004007	1	0
ATP2A1	487	broad.mit.edu	37	16	28913328	28913328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:28913328G>T	ENST00000395503.4	+	16	2429	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.E624*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.E749*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	749					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCTGTGGAGGAGGGCCGCGC	0.592000													16	46					7.07596e-05	7.5581e-05	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179582915	179582915	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:179582915A>G	ENST00000589042.1	-	86	25042	c.24818T>C	c.(24817-24819)gTg>gCg	p.V8273A	TTN_ENST00000342992.6_Missense_Mutation_p.V7029A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7956A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7956	Ig-like 65.						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)			GACTGCTTCCACATGTTCCAG	0.393000													41	36					0	0	0.008740	0	0
GABRA5	2558	broad.mit.edu	37	15	27159961	27159961	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:27159961C>G	ENST00000335625.5	+	7	1397	c.509C>G	c.(508-510)tCt>tGt	p.S170C	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Missense_Mutation_p.S170C|GABRA5_ENST00000355395.5_Missense_Mutation_p.S170C	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	170					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGACCATCTCTGCAGAGTGC	0.473000													28	46					0	0	0.009535	0	0
MZF1	7593	broad.mit.edu	37	19	59073507	59073507	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:59073507C>T	ENST00000215057.2	-	6	2697	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.D713N	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	713					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGGCCACAGTCCTGGCAGGCG	0.677000													10	4					0	0	0.010729	0	0
SOST	50964	broad.mit.edu	37	17	41832895	41832895	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:41832895C>T	ENST00000301691.2	-	2	503	c.457G>A	c.(457-459)Gcg>Acg	p.A153T		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	153	CTCK.				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCGCGCGGCGCCTCACCACCG	0.716000													14	26					0	0	0.002450	0	0
OR4M1	441670	broad.mit.edu	37	14	20248502	20248502	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:20248502C>A	ENST00000315957.4	+	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAATTACACCAAGGTGACAG	0.338000													22	57					1.96292e-10	2.43018e-10	0.010504	1	0
BARHL2	343472	broad.mit.edu	37	1	91177984	91177984	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:91177984G>T	ENST00000370445.4	-	3	1090	c.1049C>A	c.(1048-1050)cCc>cAc	p.P350H		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	350						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTGCAGCTGGGGATGGGGTGC	0.672000													9	3					1.12685e-05	1.22121e-05	0.004482	1	0
RIC8A	60626	broad.mit.edu	37	11	212638	212638	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:212638G>A	ENST00000526104.1	+	7	2433	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	RIC8A_ENST00000527696.1_Silent_p.V357V|RIC8A_ENST00000325207.5_Silent_p.V369V			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	363						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGCGGGATGTGAGGACACGGC	0.607000													8	19					0	0	0.004482	0	0
ZNF689	115509	broad.mit.edu	37	16	30621285	30621285	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:30621285C>A	ENST00000287461.3	-	1	415	c.78G>T	c.(76-78)ccG>ccT	p.P26P	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TCAGAGCCCTCGGCCTCCTGC	0.706000													4	11					1.23904e-05	1.33759e-05	0.014758	1	0
EPHA3	2042	broad.mit.edu	37	3	89499367	89499367	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:89499367C>T	ENST00000336596.2	+	15	2762	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L	EPHA3_ENST00000494014.1_Missense_Mutation_p.P846L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	846	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGCCACCCCCCATGGACTGC	0.473000										TSP Lung(6;0.00050)			11	11					0	0	0.010729	0	0
CRYBB3	1417	broad.mit.edu	37	22	25598760	25598760	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:25598760G>T	ENST00000215855.2	+	3	274		c.e3+1		CRYBB3_ENST00000404334.1_Splice_Site	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3						visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						AGTCCGGGCCGTGAGTACCTA	0.627000											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					1.5739e-10	1.9529e-10	0.004007	1	0
LLGL2	3993	broad.mit.edu	37	17	73539531	73539531	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:73539531G>T	ENST00000392550.3	+	2	141	c.24G>T	c.(22-24)ggG>ggT	p.G8G	LLGL2_ENST00000375227.4_Silent_p.G8G|LLGL2_ENST00000578363.1_Silent_p.G8G|LLGL2_ENST00000577200.1_Silent_p.G8G|LLGL2_ENST00000167462.5_Silent_p.G8G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	8					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAGGCCAGGGCATGACCCTG	0.577000													23	91					1.36565e-18	1.98688e-18	0.016522	1	0
STK36	27148	broad.mit.edu	37	2	219561779	219561779	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:219561779A>T	ENST00000295709.3	+	23	2883	c.2604A>T	c.(2602-2604)ctA>ctT	p.L868L	STK36_ENST00000440309.1_Silent_p.L868L|STK36_ENST00000392106.2_Silent_p.L847L|STK36_ENST00000392105.3_Silent_p.L847L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	868					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGGCTAGCCTAATCAGGGATA	0.517000													219	184					0	0	0.014410	0	0
SERGEF	26297	broad.mit.edu	37	11	18028149	18028149	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:18028149A>G	ENST00000265965.5	-	3	492	c.341T>C	c.(340-342)aTt>aCt	p.I114T	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Missense_Mutation_p.I114T|SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000532212.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	114					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TGTGAGCATAATCGTAAAATC	0.478000													26	63					0	0	0.003954	0	0
RHAG	6005	broad.mit.edu	37	6	49582522	49582522	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:49582522T>C	ENST00000371175.4	-	5	711	c.685A>G	c.(685-687)Att>Gtt	p.I229V	RHAG_ENST00000229810.7_Missense_Mutation_p.I229V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	229					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.I229V(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGTTCAGCAATGGCCGAGTTA	0.498000													85	64					0	0	0.014410	0	0
ASPM	259266	broad.mit.edu	37	1	197097645	197097645	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:197097645C>A	ENST00000367409.4	-	10	3167	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	ASPM_ENST00000367408.1_Missense_Mutation_p.D221Y|ASPM_ENST00000294732.7_Missense_Mutation_p.D971Y	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	971	CH 1.				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						CATTGCAAGTCTACGGCAAGA	0.368000													31	37					1.99505e-19	2.94886e-19	0.012213	1	0
E2F5	1875	broad.mit.edu	37	8	86114436	86114436	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:86114436G>T	ENST00000418930.2	+	2	485	c.289G>T	c.(289-291)Gtc>Ttc	p.V97F	E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.V97F|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.V97F			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	97	Leucine-zipper.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TATCACCAATGTCTTAGAGGG	0.383000													4	22					0.00909568	0.0092706	0.009096	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76481964	76481964	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:76481964A>T	ENST00000307431.8	+	6	976	c.591A>T	c.(589-591)caA>caT	p.Q197H	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q173H|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q201H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q197H|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	198					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATTTGATCAAAAATCCCTGA	0.373000													5	44					0	0	0.001168	0	0
POTEG	404785	broad.mit.edu	37	14	19553593	19553593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:19553593C>A	ENST00000409832.3	+	1	229	c.177C>A	c.(175-177)agC>agA	p.S59R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	59										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTCAGGAGCAAGATGGGCA	0.607000													76	379					4.25529e-51	7.48206e-51	0.014410	1	0
ACVR2A	92	broad.mit.edu	37	2	148672860	148672860	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:148672860A>T	ENST00000241416.7	+	5	1265	c.629A>T	c.(628-630)cAg>cTg	p.Q210L	ACVR2A_ENST00000535787.1_Missense_Mutation_p.Q102L|ACVR2A_ENST00000404590.1_Missense_Mutation_p.Q210L	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	210	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGGAAAGCCCAGTTGCTTAAC	0.408000													21	82					0	0	0.012319	0	0
CROCC	9696	broad.mit.edu	37	1	17265571	17265571	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:17265571C>A	ENST00000375541.5	+	12	1611	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	514					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTCCCCGGCCTGCTCAGACT	0.746000													16	7					5.03518e-11	6.35392e-11	0.007413	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734242	12734242	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:12734242C>G	ENST00000380682.1	+	15	2170	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	555					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AACTGTATACCCCAAATGACC	0.453000													32	102					0	0	0.012213	0	0
LPA	4018	broad.mit.edu	37	6	161015066	161015066	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:161015066T>G	ENST00000447678.1	-	23	3673	c.3553A>C	c.(3553-3555)Aca>Cca	p.T1185P	LPA_ENST00000316300.5_Missense_Mutation_p.T1185P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3693	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCCTTCCTGTGACAGTGGTA	0.473000													64	46					0	0	0.014410	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20302216	20302216	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:20302216C>T	ENST00000375111.3	-	6	684	c.413G>A	c.(412-414)aGa>aAa	p.R138K	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.R138K|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	138					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTCCCTCTGCAGTGTTT	0.493000													63	49					0	0	0.014410	0	0
BTBD9	114781	broad.mit.edu	37	6	38548069	38548069	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:38548069G>A	ENST00000481247.1	-	5	1110	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BTBD9_ENST00000403056.1_Missense_Mutation_p.S320F|BTBD9_ENST00000408958.1_Missense_Mutation_p.S252F|BTBD9_ENST00000314100.6_Missense_Mutation_p.S252F|BTBD9_ENST00000419706.2_Missense_Mutation_p.S261F	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	320					cell adhesion			p.S252F(1)|p.S320F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CTCGATGCCGGAACGGCAGTC	0.428000													18	61					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179440743	179440743	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:179440743A>G	ENST00000589042.1	-	326	70340	c.70116T>C	c.(70114-70116)ccT>ccC	p.P23372P	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.P20804P|TTN_ENST00000342175.6_Silent_p.P14499P|TTN_ENST00000359218.5_Silent_p.P14432P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.P21731P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P14307P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21731	Fibronectin type-III 70.						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)			CTTCAGGAGCAGGACGACCTT	0.408000													141	118					0	0	0.014410	0	0
KDELC1	79070	broad.mit.edu	37	13	103436859	103436859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:103436859T>A	ENST00000376004.4	-	10	1831	c.1495A>T	c.(1495-1497)Aaa>Taa	p.K499*	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	499						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGTTCATCTTTGGTCTGCAAT	0.294000													6	24					0	0	0.001984	0	0
OR2T8	343172	broad.mit.edu	37	1	248084532	248084532	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248084532G>T	ENST00000319968.4	+	1	213	c.213G>T	c.(211-213)ctG>ctT	p.L71L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGTGATGCTGGTTTCCACCA	0.567000													27	147					1.13719e-10	1.41418e-10	0.008361	1	0
BRD8	10902	broad.mit.edu	37	5	137497802	137497802	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:137497802C>T	ENST00000254900.5	-	16	2492	c.2121G>A	c.(2119-2121)caG>caA	p.Q707Q	BRD8_ENST00000402931.1_Silent_p.Q707Q|BRD8_ENST00000230901.5_Silent_p.Q780Q|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000411594.2_Silent_p.Q710Q|BRD8_ENST00000455658.2_Silent_p.Q666Q	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	707					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTTCTGTGCCTGAATAGCTT	0.393000													39	27					0	0	0.013114	0	0
FBXL7	23194	broad.mit.edu	37	5	15928107	15928107	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:15928107C>A	ENST00000504595.1	+	3	717	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	FBXL7_ENST00000329673.7_Missense_Mutation_p.S67Y|FBXL7_ENST00000510662.1_Missense_Mutation_p.S32Y	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	79					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCTCGTCCTCCATCACCGGG	0.662000													24	106					7.33532e-06	7.98846e-06	0.003954	1	0
CCDC108	255101	broad.mit.edu	37	2	219895922	219895922	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:219895922A>G	ENST00000341552.5	-	8	1004	c.921T>C	c.(919-921)ttT>ttC	p.F307F	CCDC108_ENST00000409865.3_Silent_p.F296F|CCDC108_ENST00000453220.1_Silent_p.F307F|CCDC108_ENST00000441968.1_Silent_p.F307F|CCDC108_ENST00000410037.1_Silent_p.F242F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	307						integral to membrane	structural molecule activity	p.F307L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAGGGGCTGAAAGGTCACCT	0.652000													25	25					0	0	0.005443	0	0
GBA	2629	broad.mit.edu	37	1	155210446	155210446	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:155210446T>A	ENST00000327247.5	-	3	322	c.90A>T	c.(88-90)ctA>ctT	p.L30L	GBA_ENST00000368373.3_Silent_p.L30L|GBA_ENST00000428024.2_Intron|GBA_ENST00000536770.1_Silent_p.L30L|GBA_ENST00000427500.2_Silent_p.L30L|GBA_ENST00000493842.1_5'UTR	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	30					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTGCCTGAAGTAGAAGCAATC	0.537000									Gaucher disease type I				60	191					0	0	0.014410	0	0
TNS1	7145	broad.mit.edu	37	2	218712411	218712411	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:218712411G>A	ENST00000171887.4	-	17	2906	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	TNS1_ENST00000430930.1_Silent_p.S818S|TNS1_ENST00000419504.1_Silent_p.S818S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	818						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCAGGCAAGGAGGAAGAGG	0.587000													18	83					0	0	0.006122	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798308	55798308	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55798308G>T	ENST00000313555.1	+	1	414	c.414G>T	c.(412-414)agG>agT	p.R138S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGATGTCTAGGAGAGTCTGTG	0.478000													41	56					2.19358e-23	3.43383e-23	0.005524	1	0
FAM120C	54954	broad.mit.edu	37	X	54107828	54107828	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:54107828C>G	ENST00000375180.2	-	14	2961	c.2905G>C	c.(2905-2907)Gct>Cct	p.A969P	FAM120C_ENST00000328235.4_Silent_p.G831G	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	969										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						CTGCTGCCAGCCCACTGGCCC	0.552000													20	61					0	0	0.007413	0	0
CDH9	1007	broad.mit.edu	37	5	26988308	26988308	+	Missense_Mutation	SNP	C	C	A	rs146128920		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:26988308C>A	ENST00000231021.4	-	2	305	c.133G>T	c.(133-135)Ggt>Tgt	p.G45C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	45					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGCATTTTACCGTCATCTTTT	0.413000													18	110					1.99824e-07	2.28106e-07	0.004990	1	0
AP2B1	163	broad.mit.edu	37	17	33951559	33951559	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:33951559G>A	ENST00000262325.7	+	6	1222	c.669G>A	c.(667-669)ctG>ctA	p.L223L	AP2B1_ENST00000538556.1_Silent_p.L166L|AP2B1_ENST00000589344.1_Silent_p.L223L|AP2B1_ENST00000537622.2_Silent_p.L223L|AP2B1_ENST00000312678.8_Silent_p.L223L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.L185L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	223					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTTCATCCTGGACTGCCTGT	0.463000													44	35					0	0	0.009718	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422086	1422086	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:1422086G>A	ENST00000270349.9	-	5	824	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	SLC6A3_ENST00000453492.2_Silent_p.L233L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	233					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGAGGCCCCAGGTCGTCGATG	0.647000													68	170					0	0	0.014410	0	0
TLL2	7093	broad.mit.edu	37	10	98170166	98170166	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:98170166G>T	ENST00000357947.3	-	9	1339	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	372	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGTAAGATGGGTACCCATTT	0.552000													23	32					3.7963e-18	5.47317e-18	0.003330	1	0
ACPP	55	broad.mit.edu	37	3	132075635	132075635	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:132075635G>T	ENST00000336375.5	+	10	1164	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	ACPP_ENST00000351273.7_Missense_Mutation_p.E358D|ACPP_ENST00000475741.1_Missense_Mutation_p.E325D	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	358						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTGCTGAGCTGGTTGGCC	0.532000													64	45					1.42676e-28	2.33184e-28	0.014410	1	0
AGXT	189	broad.mit.edu	37	2	241818165	241818165	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:241818165C>A	ENST00000307503.3	+	11	1493	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	369					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGCAATGCCACCCGCGAGAAT	0.697000													8	6					0.00307968	0.00316791	0.003080	1	0
DNAH5	1767	broad.mit.edu	37	5	13811776	13811776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:13811776G>A	ENST00000265104.4	-	44	7491	c.7387C>T	c.(7387-7389)Caa>Taa	p.Q2463*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2463			Q -> R (in dbSNP:rs10078391).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCAGGCCTTGAAGCATGTTA	0.418000									Kartagener syndrome				10	106					0	0	0.008291	0	0
TRIM51	84767	broad.mit.edu	37	11	55653315	55653315	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55653315G>T	ENST00000449290.2	+	2	503	c.411_splice	c.e2+1	p.R137_splice		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	137						intracellular	zinc ion binding										AGGAACGCCGGGTAAGTGATG	0.488000													8	33					0.000274275	0.0002861	0.004482	1	0
BCOR	54880	broad.mit.edu	37	X	39916426	39916426	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:39916426C>A	ENST00000342274.4	-	11	4837	c.4475G>T	c.(4474-4476)aGt>aTt	p.S1492I	BCOR_ENST00000378463.1_Missense_Mutation_p.S369I|BCOR_ENST00000378455.4_Missense_Mutation_p.S1474I|BCOR_ENST00000397354.3_Missense_Mutation_p.S1492I|BCOR_ENST00000378444.4_Missense_Mutation_p.S1526I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATCCTGGGCACTACAGTTGAC	0.547000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						17	34					0.000175454	0.000184925	0.010504	1	0
OR56A3	390083	broad.mit.edu	37	11	5968957	5968957	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:5968957T>C	ENST00000329564.6	+	1	388	c.381T>C	c.(379-381)taT>taC	p.Y127Y		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGATCGTTATGTAGCCATCT	0.458000													43	74					0	0	0.008740	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835320	80835320	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:80835320A>T	ENST00000466387.1	+	21	3031	c.2307A>T	c.(2305-2307)tcA>tcT	p.S769S	CTNNA2_ENST00000402739.4_Silent_p.S769S|CTNNA2_ENST00000541047.1_Silent_p.S769S|CTNNA2_ENST00000361291.4_Silent_p.S803S|CTNNA2_ENST00000343114.3_Silent_p.S448S|CTNNA2_ENST00000496558.1_Silent_p.S769S|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000430876.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	769					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTCCTGATTCAGCATGTAAGC	0.368000													15	38					0	0	0.004990	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717474	13717474	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:13717474G>C	ENST00000279593.3	-	13	2907	c.2698C>G	c.(2698-2700)Cgc>Ggc	p.R900G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	900					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCAGCAGGCGCAGGATGTTG	0.582000													98	196					0	0	0.014410	0	0
MDGA1	266727	broad.mit.edu	37	6	37614116	37614116	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:37614116C>A	ENST00000434837.2	-	11	3260	c.2082G>T	c.(2080-2082)ccG>ccT	p.P694P	MDGA1_ENST00000505425.1_Silent_p.P694P|MDGA1_ENST00000510077.1_5'UTR|MDGA1_ENST00000297153.7_Silent_p.P697P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	694	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACGCCGGACCGGGATGGCCT	0.572000													3	10					0.00024832	0.000259756	0.009096	1	0
TMED9	54732	broad.mit.edu	37	5	177019589	177019589	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:177019589G>C	ENST00000332598.6	+	2	255	c.198G>C	c.(196-198)acG>acC	p.T66T		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	66	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTACCGGACGCAGCTGTATG	0.662000													17	10					0	0	0.007413	0	0
NES	10763	broad.mit.edu	37	1	156640182	156640182	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:156640182C>T	ENST00000368223.3	-	4	3930	c.3798G>A	c.(3796-3798)ttG>ttA	p.L1266L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1266	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAGAACCCAACTCCTCCT	0.652000													52	182					0	0	0.014410	0	0
ZNF470	388566	broad.mit.edu	37	19	57088752	57088752	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:57088752A>G	ENST00000330619.8	+	6	1641	c.955A>G	c.(955-957)Aaa>Gaa	p.K319E	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K319E	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCAGTGTAATAAAGCATTCAG	0.438000													24	17					0	0	0.014323	0	0
EGFL6	25975	broad.mit.edu	37	X	13635949	13635949	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:13635949G>T	ENST00000361306.1	+	8	1136	c.879G>T	c.(877-879)aaG>aaT	p.K293N	EGFL6_ENST00000380602.3_Missense_Mutation_p.K293N	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	293					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGAAAAAGAAGGCAAAAATTA	0.443000													38	56					1.36161e-19	2.01795e-19	0.004289	1	0
SEMA4F	10505	broad.mit.edu	37	2	74900936	74900936	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:74900936G>T	ENST00000357877.2	+	7	952	c.803G>T	c.(802-804)cGg>cTg	p.R268L	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	268	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAAGTCCCACGGGTGGCCCGT	0.542000													37	99					1.8453e-21	2.80193e-21	0.010771	1	0
DTX2	113878	broad.mit.edu	37	7	76109892	76109892	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:76109892G>C	ENST00000324432.5	+	4	576	c.66G>C	c.(64-66)tgG>tgC	p.W22C	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446820.2_Missense_Mutation_p.W22C|DTX2_ENST00000430490.2_Missense_Mutation_p.W22C|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.W22C|DTX2_ENST00000307569.8_Missense_Mutation_p.W22C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	22	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGGCCGTGTGGGAATGGCAGG	0.637000													25	17					0	0	0.003954	0	0
PREX1	57580	broad.mit.edu	37	20	47273705	47273705	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:47273705T>A	ENST00000396220.1	-	18	2018	c.1996A>T	c.(1996-1998)Agg>Tgg	p.R666W	PREX1_ENST00000371941.3_Missense_Mutation_p.R666W			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	666	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TAGATCTTCCTCCCCACCTGC	0.592000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	19					0	0	0.002450	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29095934	29095934	+	RNA	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:29095934G>T	ENST00000582557.1	+	0	1233																											ACAAAACCTGGAAATTTCCCG	0.418000													19	24					1.10513e-12	1.45736e-12	0.014323	1	0
DCAF11	80344	broad.mit.edu	37	14	24586899	24586899	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:24586899G>T	ENST00000446197.3	+	5	1161	c.434G>T	c.(433-435)cGg>cTg	p.R145L	DCAF11_ENST00000396941.4_Missense_Mutation_p.R119L|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396936.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.R145L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	145						CUL4 RING ubiquitin ligase complex	protein binding										CTCTGCCATCGGGGAAGCTTC	0.507000													31	79					3.76114e-14	5.11754e-14	0.004289	1	0
CCDC144A	9720	broad.mit.edu	37	17	16638040	16638040	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:16638040C>T	ENST00000443444.2	+	12	2595	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H819Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.H819Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H819Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.H539Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	819																	GGATCTCTTTCATGAAGATTG	0.323000													10	4					0	0	0.006214	0	0
GPR112	139378	broad.mit.edu	37	X	135427807	135427807	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:135427807C>A	ENST00000394143.1	+	6	2233	c.1942C>A	c.(1942-1944)Ctg>Atg	p.L648M	GPR112_ENST00000412101.1_Missense_Mutation_p.L443M|GPR112_ENST00000394141.1_Missense_Mutation_p.L443M|GPR112_ENST00000370652.1_Missense_Mutation_p.L648M|GPR112_ENST00000287534.4_Missense_Mutation_p.L585M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	648					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)					AGCTGCCCATCTGTTCTCCAG	0.488000													23	24					2.70639e-06	3.00021e-06	0.014323	1	0
CCAR1	55749	broad.mit.edu	37	10	70516189	70516189	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:70516189G>A	ENST00000265872.6	+	14	1904	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	CCAR1_ENST00000535016.1_Silent_p.Q580Q|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Silent_p.Q580Q	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	595					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATACAAGCAGCAGCTGGTCG	0.527000													10	24					0	0	0.006214	0	0
NLRP13	126204	broad.mit.edu	37	19	56423258	56423258	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:56423258A>G	ENST00000588751.1	-	5	1949	c.1925T>C	c.(1924-1926)cTa>cCa	p.L642P	NLRP13_ENST00000342929.3_Missense_Mutation_p.L642P			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	642							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGACTCGTGTAGGCAGTGAAA	0.433000													43	26					0	0	0.006999	0	0
NFS1	9054	broad.mit.edu	37	20	34263123	34263123	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:34263123C>A	ENST00000374092.4	-	8	862	c.790_splice	c.e8-1	p.G264_splice	NFS1_ENST00000374085.1_Splice_Site_p.G204_splice|NFS1_ENST00000540053.1_Splice_Site_p.G62_splice|NFS1_ENST00000541387.1_Splice_Site_p.G213_splice|NFS1_ENST00000397425.1_Splice_Site_p.G204_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	264					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGGCACCAACCCCTGGGAAAC	0.483000													12	23					3.07112e-06	3.38096e-06	0.010729	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596189	58596189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:58596189C>A	ENST00000240727.6	-	7	1795	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.E522*|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.E466*|ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.E330*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	466					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGCTTTTCTCCTTCTCGTGG	0.711000													7	2					0.000157383	0.000166036	0.003080	1	0
FBXL7	23194	broad.mit.edu	37	5	15928497	15928497	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:15928497A>G	ENST00000504595.1	+	3	1107	c.626A>G	c.(625-627)cAg>cGg	p.Q209R	FBXL7_ENST00000329673.7_Missense_Mutation_p.Q197R|FBXL7_ENST00000510662.1_Missense_Mutation_p.Q162R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	209					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCATCGCCCAGTGCTGCCCC	0.582000													13	117					0	0	0.001855	0	0
CMAS	55907	broad.mit.edu	37	12	22215219	22215219	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:22215219G>T	ENST00000229329.2	+	7	1095	c.965G>T	c.(964-966)aGg>aTg	p.R322M		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	322					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTAAGGTGAGGCTAATCTCA	0.348000													11	16					1.58986e-06	1.77129e-06	0.008291	1	0
ABCA1	19	broad.mit.edu	37	9	107591242	107591242	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:107591242G>A	ENST00000374736.3	-	15	2464	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	690					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAAGAGGAATGAGGCTACTAA	0.537000													25	16					0	0	0.003954	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735853	12735853	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:12735853G>T	ENST00000380682.1	+	16	3414	c.2908G>T	c.(2908-2910)Gcc>Tcc	p.A970S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	970					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTCCTCGCACGCCCTGGCTGC	0.607000													50	102					8.04919e-23	1.24427e-22	0.014410	1	0
BZRAP1	9256	broad.mit.edu	37	17	56385939	56385939	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:56385939C>A	ENST00000355701.3	-	22	5564	c.4694G>T	c.(4693-4695)cGc>cTc	p.R1565L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1505L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1565L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1565						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTCGCACTGCGGCCTCTCCG	0.697000													18	73					1.67942e-08	1.98217e-08	0.006122	1	0
ZFAND6	54469	broad.mit.edu	37	15	80423536	80423536	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:80423536A>G	ENST00000261749.6	+	6	801	c.379A>G	c.(379-381)Aca>Gca	p.T127A	ZFAND6_ENST00000559835.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000561060.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000558688.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000559775.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000558494.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000559157.1_Missense_Mutation_p.T115A|ZFAND6_ENST00000558087.1_Missense_Mutation_p.T127A	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	127							DNA binding|zinc ion binding	p.T127A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGTATCAGACACAGCACAGCA	0.398000													24	48					0	0	0.014323	0	0
ITSN2	50618	broad.mit.edu	37	2	24522942	24522942	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:24522942C>G	ENST00000355123.4	-	12	1623	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	ITSN2_ENST00000406921.3_Missense_Mutation_p.E394Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E394Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	394					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTACGTTCTGCCTCCCTT	0.438000													21	120					0	0	0.012319	0	0
HESX1	8820	broad.mit.edu	37	3	57232929	57232929	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:57232929G>A	ENST00000295934.3	-	2	245	c.209C>T	c.(208-210)tCa>tTa	p.S70L	HESX1_ENST00000473921.1_Missense_Mutation_p.S70L	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GCTAGGGAATGAAATCCCACT	0.398000													65	170					0	0	0.014410	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105892156	105892156	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:105892156C>A	ENST00000393359.2	-	8	1952	c.1526G>T	c.(1525-1527)tGg>tTg	p.W509L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.W509L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	509					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AATGTTCACCCACAACTGGAA	0.378000													16	89					6.72482e-11	8.40037e-11	0.003163	1	0
ZNF536	9745	broad.mit.edu	37	19	31025765	31025765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:31025765G>T	ENST00000355537.3	+	3	2329	c.2182G>T	c.(2182-2184)Gag>Tag	p.E728*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATTGGCGAGGAGGCTGGGAG	0.552000													75	56					9.98788e-38	1.72082e-37	0.014410	1	0
SPATA16	83893	broad.mit.edu	37	3	172835332	172835332	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:172835332T>C	ENST00000351008.3	-	2	373	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	64					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTGTCATTTTTGTTCTTTCA	0.388000													27	263					0	0	0.003954	0	0
RASD2	23551	broad.mit.edu	37	22	35947895	35947895	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:35947895T>A	ENST00000216127.4	+	3	1259	c.617T>A	c.(616-618)gTg>gAg	p.V206E		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	206	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGATCTCCGTGCAGTACGGT	0.632000													16	39					0	0	0.006122	0	0
TMC3	342125	broad.mit.edu	37	15	81660628	81660628	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:81660628G>T	ENST00000558726.1	-	3	413	c.278C>A	c.(277-279)aCc>aAc	p.T93N	TMC3_ENST00000359440.5_Missense_Mutation_p.T93N			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	93						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCGGGTCCTGGTCAGCCTCCC	0.488000													75	132					7.83748e-43	1.36086e-42	0.014410	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018299	161018299	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:161018299G>T	ENST00000368013.3	-	12	2832	c.2512C>A	c.(2512-2514)Cgg>Agg	p.R838R	ARHGAP30_ENST00000368015.1_Silent_p.R661R|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	838	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCACTCTCCCGTTCCTTGCTG	0.557000													96	103					1.10825e-40	1.92131e-40	0.014410	1	0
KIAA0556	23247	broad.mit.edu	37	16	27732964	27732964	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:27732964G>A	ENST00000261588.4	+	14	1710	c.1691G>A	c.(1690-1692)gGg>gAg	p.G564E	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	564								p.G564E(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGACAGCTGGGGGACTTCCAT	0.547000													13	42					0	0	0.002450	0	0
MUC2	4583	broad.mit.edu	37	11	1100993	1100993	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:1100993G>A	ENST00000441003.2	+	41	7419		c.e41-1			NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTTCCCTGCAGTTTGGGGAGC	0.602000													13	20					0	0	0.002450	0	0
ITIH5	80760	broad.mit.edu	37	10	7708776	7708776	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:7708776G>A	ENST00000256861.6	-	1	158	c.80C>T	c.(79-81)tCt>tTt	p.S27F	ITIH5_ENST00000397146.2_Missense_Mutation_p.S27F|ITIH5_ENST00000397145.2_Missense_Mutation_p.S27F|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	27					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGCTCCGAAGAGTGGCCCCA	0.761000													31	16					0	0	0.013726	0	0
MGA	23269	broad.mit.edu	37	15	41961119	41961119	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:41961119G>T	ENST00000219905.7	+	2	208	c.27G>T	c.(25-27)ttG>ttT	p.L9F	MGA_ENST00000389936.4_Missense_Mutation_p.L9F|MGA_ENST00000566586.1_Missense_Mutation_p.L9F|MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.L9F|MGA_ENST00000545763.1_Missense_Mutation_p.L9F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	9						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGATTATATTGGCTAATCAAG	0.418000													64	92					9.64103e-21	1.44811e-20	0.014410	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29231623	29231623	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:29231623C>T	ENST00000441381.1	+	0	94																											TGACCAACATCTGTGGGACTA	0.403000													45	125					0	0	0.014410	0	0
ALK	238	broad.mit.edu	37	2	29432736	29432736	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:29432736G>T	ENST00000389048.3	-	25	4658	c.3752C>A	c.(3751-3753)gCt>gAt	p.A1251D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1251	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTCTGGCAGCAATGTCTCT	0.483000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				17	40					6.94344e-10	8.50171e-10	0.006122	1	0
CCKBR	887	broad.mit.edu	37	11	6281185	6281185	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:6281185C>A	ENST00000525462.1	+	1	30	c.27C>A	c.(25-27)agC>agA	p.S9R	CCKBR_ENST00000525014.1_Missense_Mutation_p.S9R|CCKBR_ENST00000532715.1_Missense_Mutation_p.S9R|CCKBR_ENST00000531712.1_Missense_Mutation_p.S9R|CCKBR_ENST00000334619.2_Missense_Mutation_p.S9R			P32239	GASR_HUMAN	cholecystokinin B receptor	9					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGAACCGGAGCGTGCAGGGAA	0.726000													4	8					0.00024832	0.000259756	0.009096	1	0
BRINP2	57795	broad.mit.edu	37	1	177199053	177199053	+	Missense_Mutation	SNP	C	C	A	rs140915160	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:177199053C>A	ENST00000361539.4	+	2	353	c.41C>A	c.(40-42)cCg>cAg	p.P14Q		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		14						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGCTTCGGCCGGCGGTGGCC	0.667000													26	37					2.48779e-11	3.1681e-11	0.005443	1	0
FFAR4	338557	broad.mit.edu	37	10	95335924	95335924	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:95335924A>G	ENST00000371483.4	+	2	700	c.644A>G	c.(643-645)aAc>aGc	p.N215S	FFAR4_ENST00000371481.4_Missense_Mutation_p.N215S|FFAR4_ENST00000604414.1_Missense_Mutation_p.N215S	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		GTTACTTTGAACTTCTTGGTG	0.433000													38	79					0	0	0.005524	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628239	51628239	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:51628239T>A	ENST00000440804.3	+	1	75	c.8T>A	c.(7-9)cTg>cAg	p.L3Q	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.L3Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	3					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACATGCTGCTGCTGCTGCTG	0.612000													28	17					0	0	0.006320	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168650	142168650	+	RNA	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:142168650G>T	ENST00000454561.2	-	0	273																											GTGGGACTTTGGGTGACTCCA	0.552000													5	53					1.3612e-06	1.51806e-06	0.003163	1	0
SKIL	6498	broad.mit.edu	37	3	170078333	170078333	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:170078333A>T	ENST00000458537.3	+	1	923	c.214A>T	c.(214-216)Acc>Tcc	p.T72S	SKIL_ENST00000259119.4_Missense_Mutation_p.T72S|SKIL_ENST00000426052.2_Missense_Mutation_p.T52S|SKIL_ENST00000413427.2_Missense_Mutation_p.T72S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	72					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGTTAAGCGAACCTGTACTTC	0.428000													97	37					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139149421	139149421	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:139149421C>A	ENST00000395297.1	-	19	4154	c.3984G>T	c.(3982-3984)atG>atT	p.M1328I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1328										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGTTTTACACATTTCAATCC	0.388000										HNSCC(54;0.14)			34	80					1.30998e-17	1.86208e-17	0.005524	1	0
LCMT1	51451	broad.mit.edu	37	16	25143744	25143744	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:25143744G>T	ENST00000399069.3	+	3	382	c.227G>T	c.(226-228)gGt>gTt	p.G76V	LCMT1_ENST00000380966.4_Missense_Mutation_p.G76V	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	76							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CGAGTCCATGGTGTCAGTCAG	0.483000													15	40					1.15088e-07	1.32054e-07	0.004007	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885555	88885555	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:88885555C>T	ENST00000319675.3	-	1	741	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	215								p.T215T(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						GCTGGTGTCCCGTCACCACGT	0.542000													60	96					0	0	0.014410	0	0
TMEM117	84216	broad.mit.edu	37	12	44338119	44338119	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:44338119G>C	ENST00000536799.1	+	2	172	c.172G>C	c.(172-174)Gat>Cat	p.D58H	TMEM117_ENST00000266534.3_Silent_p.T128T|TMEM117_ENST00000551577.1_Silent_p.T128T			Q9H0C3	TM117_HUMAN	transmembrane protein 117	0						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATACAACACGATTCTTCTAA	0.368000													34	69					0	0	0.003755	0	0
GRM4	2914	broad.mit.edu	37	6	34004361	34004361	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:34004361G>T	ENST00000374181.3	-	8	1695	c.1526C>A	c.(1525-1527)cCg>cAg	p.P509Q	GRM4_ENST00000535756.1_Missense_Mutation_p.P376Q|GRM4_ENST00000374177.3_Missense_Mutation_p.P393Q|GRM4_ENST00000545715.1_Missense_Mutation_p.P201Q|GRM4_ENST00000544773.1_Missense_Mutation_p.P340Q|GRM4_ENST00000538487.1_Missense_Mutation_p.P509Q|GRM4_ENST00000455714.2_Missense_Mutation_p.P369Q	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	509					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCCGCTCCCCGGCCAGTGCAT	0.647000													13	51					1.96292e-10	2.43018e-10	0.010504	1	0
PZP	5858	broad.mit.edu	37	12	9348939	9348939	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:9348939G>T	ENST00000261336.2	-	10	1107	c.1079C>A	c.(1078-1080)cCc>cAc	p.P360H	PZP_ENST00000381997.2_Missense_Mutation_p.P229H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGCAAAAAAGGGGATTCCTTG	0.418000													10	36					4.68919e-08	5.48221e-08	0.008291	1	0
CD163	9332	broad.mit.edu	37	12	7639535	7639535	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7639535G>T	ENST00000359156.4	-	9	2300	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	CD163_ENST00000541972.1_Missense_Mutation_p.P688T|CD163_ENST00000396620.3_Missense_Mutation_p.P733T|CD163_ENST00000432237.2_Missense_Mutation_p.P700T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	700					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCCTTGTTGGGCCCAAAGAC	0.438000													19	42					9.7654e-05	0.000103711	0.007413	1	0
CDKAL1	54901	broad.mit.edu	37	6	20758835	20758835	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:20758835A>G	ENST00000274695.4	+	7	645	c.478A>G	c.(478-480)Ata>Gta	p.I160V	CDKAL1_ENST00000378610.1_Missense_Mutation_p.I160V|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.I90V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	160	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGTTCAGCAGATAGATCGTGT	0.318000													9	12					0	0	0.008291	0	0
IBSP	3381	broad.mit.edu	37	4	88732883	88732883	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:88732883T>A	ENST00000226284.5	+	7	842	c.775T>A	c.(775-777)Tac>Aac	p.Y259N		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	259					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CACCGTTGAATACGAGGGGGA	0.488000													27	22					0	0	0.005443	0	0
APBB2	323	broad.mit.edu	37	4	41016094	41016094	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:41016094C>A	ENST00000295974.8	-	6	970	c.341G>T	c.(340-342)gGg>gTg	p.G114V	APBB2_ENST00000506352.1_Missense_Mutation_p.G114V|APBB2_ENST00000513140.1_Missense_Mutation_p.G114V|APBB2_ENST00000508593.1_Missense_Mutation_p.G114V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	114					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTCCTGCTGCCCTTGCTCTGC	0.552000													25	75					1.17739e-12	1.54898e-12	0.005443	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627844	43627844	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:43627844G>T	ENST00000332857.6	-	4	871	c.843C>A	c.(841-843)tcC>tcA	p.S281S	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CCTGCCACCGGGAGGAGGCAG	0.567000													108	56					6.47804e-62	1.15361e-61	0.014410	1	0
GPR64	10149	broad.mit.edu	37	X	19045370	19045370	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:19045370G>A	ENST00000379878.3	-	10	630	c.389C>T	c.(388-390)aCc>aTc	p.T130I	GPR64_ENST00000379873.2_Missense_Mutation_p.T146I|GPR64_ENST00000340581.3_Missense_Mutation_p.T116I|GPR64_ENST00000357991.3_Missense_Mutation_p.T143I|GPR64_ENST00000379869.3_Missense_Mutation_p.T146I|GPR64_ENST00000360279.4_Missense_Mutation_p.T124I|GPR64_ENST00000379876.1_Missense_Mutation_p.T122I|GPR64_ENST00000356606.4_Missense_Mutation_p.T132I|GPR64_ENST00000354791.3_Missense_Mutation_p.T130I|GPR64_ENST00000357544.3_Missense_Mutation_p.T116I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	146					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCCAGTTAAGGTGCCATTCGT	0.338000													39	100					0	0	0.006230	0	0
DCLK3	85443	broad.mit.edu	37	3	36763036	36763036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:36763036C>A	ENST00000416516.2	-	3	2057	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	523	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAAGAATTTCGGGAGCTACG	0.388000													32	25					3.86903e-22	5.91515e-22	0.013726	1	0
PPARG	5468	broad.mit.edu	37	3	12458265	12458265	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:12458265C>T	ENST00000397026.2	+	8	1199	c.816C>T	c.(814-816)caC>caT	p.H272H	PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.H266H|PPARG_ENST00000397010.2_Silent_p.H266H|PPARG_ENST00000287820.6_Silent_p.H294H|PPARG_ENST00000397015.2_Silent_p.H266H|PPARG_ENST00000397012.2_Silent_p.H266H|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	294	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGTTCAAACACATCACCCCCC	0.478000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						33	32					0	0	0.012213	0	0
TNFRSF8	943	broad.mit.edu	37	1	12202462	12202462	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:12202462G>T	ENST00000263932.2	+	15	1884	c.1662G>T	c.(1660-1662)gcG>gcT	p.A554A	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_Silent_p.A91A|TNFRSF8_ENST00000417814.2_Silent_p.A442A	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	554					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGGAGGCGGACCATACCC	0.662000													20	7					2.54575e-18	3.69416e-18	0.010504	1	0
DMD	1756	broad.mit.edu	37	X	32486649	32486649	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:32486649A>G	ENST00000357033.4	-	23	3334	c.3128T>C	c.(3127-3129)cTa>cCa	p.L1043P	DMD_ENST00000378677.2_Missense_Mutation_p.L1039P	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	1043					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)				TTGCTCCTCTAGCTTTTGACA	0.388000													6	18					0	0	0.003080	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205864	72205864	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:72205864A>G	ENST00000555818.1	+	22	5749	c.5401A>G	c.(5401-5403)Ata>Gta	p.I1801V	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I1780V|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I1779V|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.I1254V	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1801					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTCAACACCATAGACATGAG	0.562000													25	50					0	0	0.004656	0	0
CAMKV	79012	broad.mit.edu	37	3	49898176	49898176	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:49898176G>C	ENST00000477224.1	-	8	1226	c.748C>G	c.(748-750)Cca>Gca	p.P250A	CAMKV_ENST00000488336.1_Missense_Mutation_p.P250A|CAMKV_ENST00000467248.1_Missense_Mutation_p.P175A|CAMKV_ENST00000466940.1_Missense_Mutation_p.P207A|CAMKV_ENST00000463537.1_Missense_Mutation_p.P250A|CAMKV_ENST00000296471.7_Missense_Mutation_p.P222A			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	250	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCCAATATGGAGAGTCAAAC	0.498000													24	79					0	0	0.003330	0	0
NRXN1	9378	broad.mit.edu	37	2	50699460	50699460	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:50699460C>T	ENST00000404971.1	-	17	4679	c.3340G>A	c.(3340-3342)Gga>Aga	p.G1114R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1074R|NRXN1_ENST00000401710.1_Missense_Mutation_p.G83R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1066R|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1074R|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1074R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1066R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGATCTGTCCGTTGCAGAAA	0.433000													6	13					0	0	0.001984	0	0
GSDMB	55876	broad.mit.edu	37	17	38062138	38062138	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:38062138C>G	ENST00000394175.2	-	6	1146	c.923G>C	c.(922-924)cGt>cCt	p.R308P	GSDMB_ENST00000520542.1_Missense_Mutation_p.R321P|GSDMB_ENST00000360317.3_Missense_Mutation_p.R330P|GSDMB_ENST00000394179.1_Missense_Mutation_p.R325P|GSDMB_ENST00000309481.7_Missense_Mutation_p.R317P|GSDMB_ENST00000418519.1_Missense_Mutation_p.R330P	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	325						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGCTTTTGCACGCGCTTCTAC	0.567000													81	120					0	0	0.014410	0	0
HMX2	3167	broad.mit.edu	37	10	124907807	124907807	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:124907807C>A	ENST00000339992.3	+	0	170					NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2						cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CTCCCCACTGCCTGCCTGCTG	0.627000													9	9					0.000274275	0.0002861	0.004482	1	0
SCN7A	6332	broad.mit.edu	37	2	167262796	167262796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:167262796C>T	ENST00000409855.1	-	25	4469	c.4343G>A	c.(4342-4344)tGg>tAg	p.W1448*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1448					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAGTCAGACCATTTACTGTT	0.388000													102	79					0	0	0.014410	0	0
ASTN2	23245	broad.mit.edu	37	9	119625958	119625958	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:119625958G>T	ENST00000313400.4	-	11	2044	c.1944C>A	c.(1942-1944)tcC>tcA	p.S648S	ASTN2_ENST00000373996.3_Silent_p.S644S|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.S597S			O75129	ASTN2_HUMAN	astrotactin 2	648						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGGCCCGAAGGAAGACAGCA	0.522000													34	17					2.48696e-23	3.88762e-23	0.015359	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58008769	58008769	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:58008769A>G	ENST00000286494.4	+	10	1389	c.929A>G	c.(928-930)aAt>aGt	p.N310S	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.N349S|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	310	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGTATTACAATAGAGCTGGG	0.507000													17	32					0	0	0.004990	0	0
TMPO	7112	broad.mit.edu	37	12	98928116	98928116	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:98928116A>T	ENST00000266732.4	+	4	2319	c.2081A>T	c.(2080-2082)cAc>cTc	p.H694L	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAATAAACACTAGTAAAAT	0.333000													18	151					0	0	0.006122	0	0
UBR2	23304	broad.mit.edu	37	6	42561937	42561937	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:42561937A>T	ENST00000372899.1	+	4	684	c.426A>T	c.(424-426)acA>acT	p.T142T	UBR2_ENST00000372903.2_Silent_p.T142T|UBR2_ENST00000372901.1_Silent_p.T142T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	142					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGATGACAACATCAGGAGGTG	0.363000													92	54					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448411	25448411	+	RNA	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:25448411G>T	ENST00000424208.1	+	0	2163				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGAAGAGAGGTGATGACTT	0.517000													93	232					1.46432e-28	2.38972e-28	0.014410	1	0
CD244	51744	broad.mit.edu	37	1	160803841	160803841	+	Splice_Site	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:160803841C>T	ENST00000368034.4	-	7	1137	c.960_splice	c.e7+1	p.K320_splice	CD244_ENST00000322302.7_Splice_Site_p.K228_splice|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Splice_Site_p.K320_splice|CD244_ENST00000368033.3_Splice_Site_p.K325_splice	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	325					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAGGCTCACCTTCCTGGAAG	0.433000													27	27					0	0	0.007291	0	0
MYT1L	23040	broad.mit.edu	37	2	1926792	1926792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:1926792C>A	ENST00000399161.2	-	10	1496	c.749G>T	c.(748-750)aGt>aTt	p.S250I	MYT1L_ENST00000428368.2_Missense_Mutation_p.S250I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	250					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TAAGTCTAAACTCAACTCACT	0.438000													37	66					1.08052e-11	1.3887e-11	0.004289	1	0
XKR7	343702	broad.mit.edu	37	20	30556385	30556385	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:30556385G>T	ENST00000217299.3	+	1	581	c.407G>T	c.(406-408)gGa>gTa	p.G136V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTAGCCGGCGGAGCCGCCATC	0.701000													13	11					2.27111e-07	2.58197e-07	0.013537	1	0
PSMA8	143471	broad.mit.edu	37	18	23731871	23731871	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:23731871C>G	ENST00000308268.6	+	3	386	c.297C>G	c.(295-297)tgC>tgG	p.C99W	PSMA8_ENST00000343848.6_Missense_Mutation_p.C55W|PSMA8_ENST00000415576.2_Missense_Mutation_p.C93W	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTGTGGAGTGCCAGAGCCATA	0.368000													19	14					0	0	0.008871	0	0
KRCC1	51315	broad.mit.edu	37	2	88327754	88327754	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:88327754C>A	ENST00000347055.3	-	4	722	c.329G>T	c.(328-330)tGt>tTt	p.C110F		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	110										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCTGAGAAACAGTCCCTCGT	0.433000													25	39					3.08376e-08	3.61668e-08	0.003330	1	0
DOCK3	1795	broad.mit.edu	37	3	51274978	51274978	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:51274978G>T	ENST00000266037.9	+	21	2082	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	687						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCTGTGATGGACACGTATAT	0.448000													11	9					1.5842e-08	1.87576e-08	0.001855	1	0
HHIPL2	79802	broad.mit.edu	37	1	222721267	222721267	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:222721267C>T	ENST00000343410.6	-	1	178	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	40					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.Q40H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGGGTGTCCCTGCAGCAAGC	0.587000													6	30					0	0	0.001168	0	0
LARP1	23367	broad.mit.edu	37	5	154179525	154179525	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:154179525G>C	ENST00000336314.4	+	10	1432	c.1408G>C	c.(1408-1410)Gcc>Ccc	p.A470P		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	547	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGCCTGTCTGCCAGCCTGCC	0.592000													22	18					0	0	0.010504	0	0
CMTM5	116173	broad.mit.edu	37	14	23846561	23846561	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:23846561A>T	ENST00000359320.3	+	1	545	c.101A>T	c.(100-102)aAg>aTg	p.K34M	CMTM5_ENST00000382809.2_Missense_Mutation_p.K34M|CMTM5_ENST00000342473.4_Missense_Mutation_p.K34M|CMTM5_ENST00000339180.4_Missense_Mutation_p.K34M|CMTM5_ENST00000397227.3_Missense_Mutation_p.K34M|CMTM5_ENST00000555731.1_Missense_Mutation_p.K34M	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	34	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		ACCTCCCACAAGGGCATCCTG	0.652000													17	34					0	0	0.006122	0	0
MCF2	4168	broad.mit.edu	37	X	138701771	138701771	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:138701771A>T	ENST00000520602.1	-	10	1247	c.962T>A	c.(961-963)tTg>tAg	p.L321*	MCF2_ENST00000370578.4_Nonsense_Mutation_p.L406*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.L321*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.L261*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.L222*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.L261*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.L261*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.L321*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	261					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAAGTTTTCCAATTTTTTTAT	0.308000													3	2					0	0	0.004672	0	0
TRAIP	10293	broad.mit.edu	37	3	49866641	49866641	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:49866641G>A	ENST00000331456.2	-	15	1418	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	435	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAATGGGCGGATCATGACTG	0.547000													28	43					0	0	0.008361	0	0
AGXT2	64902	broad.mit.edu	37	5	35014185	35014185	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:35014185C>T	ENST00000231420.6	-	10	1203	c.1003G>A	c.(1003-1005)Ggc>Agc	p.G335S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	335					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTTTGGAAGCCCCAGAAGTGA	0.507000													19	142					0	0	0.006122	0	0
SMO	6608	broad.mit.edu	37	7	128851576	128851576	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:128851576C>T	ENST00000249373.3	+	11	2181	c.1901C>T	c.(1900-1902)cCc>cTc	p.P634L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	634					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCATACTGCCCCAGGATATT	0.597000			Mis		skin basal cell								43	27					0	0	0.014410	0	0
TASP1	55617	broad.mit.edu	37	20	13463883	13463883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:13463883T>A	ENST00000337743.4	-	11	1096	c.976A>T	c.(976-978)Aag>Tag	p.K326*	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Silent_p.T128T	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	326					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTGATAAACTTGTTTTGCATA	0.378000													13	165					0	0	0.003163	0	0
MYO3A	53904	broad.mit.edu	37	10	26357812	26357812	+	Splice_Site	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:26357812A>C	ENST00000265944.5	+	12	1335	c.1170_splice	c.e12+1	p.K390_splice	MYO3A_ENST00000543632.1_Splice_Site_p.K390_splice	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	390	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACTCCACAAAGGTATGTCGT	0.353000													24	12					0	0	0.004656	0	0
USP29	57663	broad.mit.edu	37	19	57641310	57641310	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:57641310C>A	ENST00000254181.4	+	4	1721	c.1267C>A	c.(1267-1269)Cct>Act	p.P423T	USP29_ENST00000598197.1_Missense_Mutation_p.P423T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	423					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTGTTTGCCCTGTTGTTGC	0.383000													38	32					1.36161e-19	2.01795e-19	0.004289	1	0
TRBV27	28560	broad.mit.edu	37	7	142423424	142423424	+	RNA	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:142423424C>A	ENST00000506718.1	+	0	432				TRBV27_ENST00000390399.3_RNA																							ACCCAGAACCCAAGATACCTC	0.493000													22	51					1.10923e-09	1.34485e-09	0.016522	1	0
SEMA6D	80031	broad.mit.edu	37	15	48056248	48056248	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:48056248A>T	ENST00000316364.5	+	10	1388	c.949A>T	c.(949-951)Acc>Tcc	p.T317S	SEMA6D_ENST00000389428.3_Missense_Mutation_p.T317S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.T317S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.T317S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.T317S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T317S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T317S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T317S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T317S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.T317S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T317S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.T317S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	317	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGGGGTGTTTACCACGCAGCT	0.488000													28	51					0	0	0.006320	0	0
MYF6	4618	broad.mit.edu	37	12	81101869	81101869	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:81101869C>A	ENST00000228641.3	+	1	593	c.371C>A	c.(370-372)cCc>cAc	p.P124H		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	124	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GTGGCCAACCCCAACCAGAGG	0.607000													38	77					2.19358e-23	3.43383e-23	0.005524	1	0
ANKRD50	57182	broad.mit.edu	37	4	125591647	125591647	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:125591647C>A	ENST00000504087.1	-	4	3822	c.2785G>T	c.(2785-2787)Gtt>Ttt	p.V929F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.V750F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	929										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGCAATTCAACAATGTCCCTG	0.408000													16	49					6.72482e-11	8.40037e-11	0.003163	1	0
ADCY2	108	broad.mit.edu	37	5	7773174	7773174	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:7773174G>A	ENST00000338316.4	+	18	2433	c.2344G>A	c.(2344-2346)Gcc>Acc	p.A782T	ADCY2_ENST00000537121.1_Missense_Mutation_p.A602T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	782					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCACACCCACGCCCACGTCCT	0.522000													33	325					0	0	0.015359	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420927	55420927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:55420927C>A	ENST00000242994.3	+	2	1082	c.704C>A	c.(703-705)tCg>tAg	p.S235*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	235					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TTGGGAGAATCGTCCTTTGGG	0.512000													25	113					5.45024e-15	7.51687e-15	0.003330	1	0
ITGAX	3687	broad.mit.edu	37	16	31382492	31382492	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:31382492G>T	ENST00000268296.4	+	15	1919	c.1798G>T	c.(1798-1800)Gtg>Ttg	p.V600L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V600L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	600					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGATGGACTGGTGGACCTGGC	0.662000													21	55					1.00905e-13	1.35636e-13	0.008871	1	0
PALD1	27143	broad.mit.edu	37	10	72298649	72298649	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:72298649G>A	ENST00000263563.6	+	13	1722	c.1452_splice	c.e13-1	p.R485_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TCCCCACAGCGGGAGGACGAT	0.677000													18	66					0	0	0.004990	0	0
DIDO1	11083	broad.mit.edu	37	20	61542639	61542639	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:61542639G>A	ENST00000266070.4	-	3	651	c.326C>T	c.(325-327)aCa>aTa	p.T109I	DIDO1_ENST00000354665.4_Missense_Mutation_p.T109I|DIDO1_ENST00000395335.2_Missense_Mutation_p.T109I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T109I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T109I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T109I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T109I|DIDO1_ENST00000370366.1_Missense_Mutation_p.T109I|DIDO1_ENST00000395343.1_Missense_Mutation_p.T109I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	109					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGGAGGCTGTCTCGGCGTC	0.642000													6	43					0	0	0.003080	0	0
LGR5	8549	broad.mit.edu	37	12	71978115	71978115	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:71978115C>A	ENST00000266674.5	+	18	2636	c.2325C>A	c.(2323-2325)aaC>aaA	p.N775K	LGR5_ENST00000540815.2_Missense_Mutation_p.N751K|LGR5_ENST00000536515.1_Missense_Mutation_p.N703K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	775						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTCACCAACTGCATCCTAA	0.428000													51	115					1.46156e-29	2.39928e-29	0.014410	1	0
KCNH8	131096	broad.mit.edu	37	3	19322702	19322702	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:19322702G>T	ENST00000328405.2	+	3	589	c.323G>T	c.(322-324)tGg>tTg	p.W108L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	108	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTCCATTTTGGTGCCTACTG	0.333000													38	21					6.70999e-13	8.88016e-13	0.004289	1	0
TENM3	55714	broad.mit.edu	37	4	183603067	183603067	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:183603067G>T	ENST00000511685.1	+	11	2058	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	TENM3_ENST00000406950.2_Missense_Mutation_p.K645N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AAATACTGAAGACCATGTGTC	0.527000													25	11					2.21704e-12	2.90643e-12	0.016522	1	0
IGSF1	3547	broad.mit.edu	37	X	130410142	130410142	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:130410142C>A	ENST00000370904.1	-	21	3572	c.2662G>T	c.(2662-2664)Ggg>Tgg	p.G888W	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Missense_Mutation_p.G888W|IGSF1_ENST00000361420.3_Missense_Mutation_p.G897W|IGSF1_ENST00000370903.3_Missense_Mutation_p.G902W			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	897	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAAAGTCCCTTGGCAGCGC	0.542000													29	32					1.77063e-15	2.46032e-15	0.005443	1	0
TSPYL6	388951	broad.mit.edu	37	2	54482213	54482213	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:54482213A>T	ENST00000317802.7	-	1	1196	c.1076T>A	c.(1075-1077)cTt>cAt	p.L359H	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	359					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGACTCTGGAAGGCTGTGGTC	0.512000													17	48					0	0	0.004007	0	0
RIMS1	22999	broad.mit.edu	37	6	73023352	73023352	+	Silent	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:73023352T>G	ENST00000264839.7	+	24	3654	c.3654T>G	c.(3652-3654)tcT>tcG	p.S1218S	RIMS1_ENST00000491071.2_Silent_p.S1192S|RIMS1_ENST00000401910.3_Silent_p.S689S|RIMS1_ENST00000538414.1_Silent_p.S175S|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517960.1_Silent_p.S1161S|RIMS1_ENST00000348717.5_Silent_p.S1161S|RIMS1_ENST00000521978.1_Silent_p.S1369S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1369					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGAGCAATCTGAGCGCCCCA	0.433000													11	19					0	0	0.013537	0	0
UNC79	57578	broad.mit.edu	37	14	94160753	94160753	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:94160753G>C	ENST00000553484.1	+	49	7880	c.7726G>C	c.(7726-7728)Gtc>Ctc	p.V2576L	UNC79_ENST00000393151.2_Missense_Mutation_p.V2554L|UNC79_ENST00000555664.1_Missense_Mutation_p.V2515L|UNC79_ENST00000256339.4_Missense_Mutation_p.V2377L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2554						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						GACCATTTTTGTCAAGGTAGG	0.323000													4	22					0	0	0.009096	0	0
ZHX2	22882	broad.mit.edu	37	8	123964312	123964312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:123964312A>T	ENST00000314393.4	+	3	1397	c.562A>T	c.(562-564)Aag>Tag	p.K188*		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	188						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCATCATGAAGCCTGGAAA	0.572000													37	115					0	0	0.003755	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627843	43627843	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:43627843G>T	ENST00000332857.6	-	4	872	c.844C>A	c.(844-846)Cgg>Agg	p.R282R	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCCTGCCACCGGGAGGAGGCA	0.567000													110	59					1.95558e-62	3.48808e-62	0.014410	1	0
RIMS3	9783	broad.mit.edu	37	1	41092228	41092228	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:41092228C>A	ENST00000372684.3	-	8	1357	c.888G>T	c.(886-888)caG>caT	p.Q296H	RIMS3_ENST00000372683.1_Missense_Mutation_p.Q296H	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	296					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	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;1.47e-17)			CCAGGGAAGACTGGGACAGGC	0.637000													11	6					9.70103e-10	1.18261e-09	0.008291	1	0
KIAA0753	9851	broad.mit.edu	37	17	6515398	6515398	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:6515398C>A	ENST00000361413.3	-	8	1744	c.1386G>T	c.(1384-1386)gcG>gcT	p.A462A	KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000542606.1_Silent_p.A163A|KIAA0753_ENST00000572370.1_Silent_p.A163A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	462						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GAACTATATCCGCATCTAATA	0.428000													122	45					9.79165e-58	1.73537e-57	0.014410	1	0
ATP6V1F	9296	broad.mit.edu	37	7	128502970	128502970	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:128502970G>T	ENST00000492758.1	+	1	13	c.12G>T	c.(10-12)agG>agT	p.R4S	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.R4S	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	4					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						TGGCGGGGAGGGGTAAGCTCA	0.647000													17	15					1.5739e-10	1.9529e-10	0.004007	1	0
IRX1	79192	broad.mit.edu	37	5	3599692	3599692	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:3599692C>T	ENST00000302006.3	+	2	682	c.630C>T	c.(628-630)acC>acT	p.T210T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAGCGACACCGAGGGCGACC	0.632000													20	152					0	0	0.007413	0	0
MDGA2	161357	broad.mit.edu	37	14	47566196	47566196	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:47566196A>T	ENST00000426342.1	-	6	908	c.162T>A	c.(160-162)acT>acA	p.T54T	MDGA2_ENST00000399232.2_Silent_p.T352T|MDGA2_ENST00000439988.2_Silent_p.T283T|MDGA2_ENST00000357362.3_Silent_p.T54T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	283	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCAGGCAGAGTCCCAAAGG	0.458000													28	55					0	0	0.005443	0	0
AKAP4	8852	broad.mit.edu	37	X	49958815	49958815	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:49958815T>C	ENST00000376056.2	-	5	672	c.522A>G	c.(520-522)aaA>aaG	p.K174K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.K183K|AKAP4_ENST00000376058.2_Silent_p.K174K|AKAP4_ENST00000376064.3_Silent_p.K174K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	183					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTTGGTGTTTTTAGCTGCTG	0.433000													59	170					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21231903	21231903	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:21231903G>T	ENST00000233242.1	-	26	7964	c.7837C>A	c.(7837-7839)Cag>Aag	p.Q2613K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2613					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)	TCAGGTGTCTGGAAGGTAGCT	0.413000													12	41					7.03913e-09	8.37024e-09	0.013537	1	0
USH2A	7399	broad.mit.edu	37	1	215972267	215972267	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:215972267C>T	ENST00000366943.2	-	50	10326	c.9940G>A	c.(9940-9942)Gtg>Atg	p.V3314M	USH2A_ENST00000307340.3_Missense_Mutation_p.V3314M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3314					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGATTGTACACCACTCCTTCT	0.493000										HNSCC(13;0.011)			19	37					0	0	0.007413	0	0
ASTN1	460	broad.mit.edu	37	1	176903441	176903441	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:176903441T>A	ENST00000367654.2	-	16	2555	c.2542A>T	c.(2542-2544)Aca>Tca	p.T848S	ASTN1_ENST00000367657.3_Missense_Mutation_p.T840S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T840S|ASTN1_ENST00000424564.2_Missense_Mutation_p.T840S			O14525	ASTN1_HUMAN	astrotactin 1	848					cell migration|neuron cell-cell adhesion	integral to membrane		p.T840A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACGAGATGTAGCCCCATCC	0.527000													13	50					0	0	0.013537	0	0
ATRX	546	broad.mit.edu	37	X	76907657	76907657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:76907657C>A	ENST00000373344.5	-	15	4718	c.4504G>T	c.(4504-4506)Gag>Tag	p.E1502*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1464*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1502	Poly-Glu.				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)	TTTCGTCTCTCTTCCTCTTCC	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						61	69					7.10676e-39	1.22633e-38	0.014410	1	0
ATXN2	6311	broad.mit.edu	37	12	111954043	111954043	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:111954043C>A	ENST00000377617.3	-	10	1931	c.1770G>T	c.(1768-1770)tcG>tcT	p.S590S	ATXN2_ENST00000389153.4_Silent_p.S325S|ATXN2_ENST00000542287.2_Silent_p.S325S|ATXN2_ENST00000535949.1_Silent_p.S301S|ATXN2_ENST00000550104.1_Silent_p.S590S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	590	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	p.S590S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGATGGCCGCGAGGGGGGCC	0.602000													23	28					5.26018e-13	6.98637e-13	0.012319	1	0
KEAP1	9817	broad.mit.edu	37	19	10599899	10599899	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:10599899G>A	ENST00000171111.5	-	5	2224	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	KEAP1_ENST00000393623.2_Silent_p.I559I	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGTGGACAGTGATCCCCAGGG	0.572000													14	7					0	0	0.001855	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919147	56919147	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:56919147G>T	ENST00000370733.4	+	4	2057	c.1850G>T	c.(1849-1851)cGc>cTc	p.R617L	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R590L	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	617							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGAACCTACGCCTTTTATCT	0.308000													28	31					1.74807e-11	2.23376e-11	0.010818	1	0
SETD1A	9739	broad.mit.edu	37	16	30990548	30990548	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:30990548C>T	ENST00000262519.8	+	14	4127	c.3441C>T	c.(3439-3441)ccC>ccT	p.P1147P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1147	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCCACGCCCCGATGAGCGTC	0.687000													7	6					0	0	0.003080	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131904286	131904286	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:131904286G>T	ENST00000438882.2	+	7	571	c.500G>T	c.(499-501)tGg>tTg	p.W167L	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409158.1_Silent_p.L211L|PLEKHB2_ENST00000409279.1_Silent_p.L203L|PLEKHB2_ENST00000234115.6_Silent_p.L202L|PLEKHB2_ENST00000538982.1_Silent_p.L155L|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W159L|PLEKHB2_ENST00000409612.1_Silent_p.L203L|PLEKHB2_ENST00000403716.1_Silent_p.L203L			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ACCTGGCACTGGGCATGCTGG	0.517000													103	133					2.13536e-36	3.65639e-36	0.014410	1	0
RALGPS2	55103	broad.mit.edu	37	1	178846673	178846673	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:178846673C>T	ENST00000367635.3	+	9	986	c.648C>T	c.(646-648)taC>taT	p.Y216Y	RALGPS2_ENST00000324778.4_Silent_p.Y181Y|RALGPS2_ENST00000367634.2_Silent_p.Y216Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	216	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATTCAGCATACCCATCAACTG	0.318000													19	38					0	0	0.012319	0	0
SLC38A5	92745	broad.mit.edu	37	X	48317990	48317990	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:48317990G>A	ENST00000376876.3	-	15	2092	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	SLC38A5_ENST00000317669.5_Missense_Mutation_p.P417S|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P366S			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	417					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AAGATGCTGGGGAGGATGAAG	0.557000													4	15					0	0	0.009096	0	0
PSG6	5675	broad.mit.edu	37	19	43411795	43411795	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:43411795G>T	ENST00000187910.2	-	4	983	c.918C>A	c.(916-918)ccC>ccA	p.P306P	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Silent_p.P306P	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CACATTGATAGGGTCCTGTTT	0.512000													308	93					5.26612e-119	9.46882e-119	0.014410	1	0
OR1F2P	26184	broad.mit.edu	37	16	3266297	3266297	+	RNA	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3266297C>G	ENST00000576468.1	+	0	418																											GGGTCCCATCCACAAAGGGAA	0.507000													21	31					0	0	0.008871	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929737	32929737	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:32929737G>T	ENST00000361627.3	+	12	3485	c.2763G>T	c.(2761-2763)atG>atT	p.M921I	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.M732I|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.M732I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	921					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTCAAGCATGGAGTTACCCT	0.373000													27	46					8.24728e-16	1.15899e-15	0.004656	1	0
APOL2	23780	broad.mit.edu	37	22	36624070	36624070	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:36624070G>A	ENST00000249066.6	-	6	870	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	APOL2_ENST00000358502.5_Missense_Mutation_p.L132F|APOL2_ENST00000451256.2_Missense_Mutation_p.L244F	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	132					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						AGGCCGAGGAGGGTCAGGATG	0.587000													22	52					0	0	0.010504	0	0
GAB1	2549	broad.mit.edu	37	4	144390297	144390297	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:144390297G>A	ENST00000262995.4	+	11	2557	c.2130G>A	c.(2128-2130)ggG>ggA	p.G710G	GAB1_ENST00000262994.4_Silent_p.G680G|GAB1_ENST00000505913.1_Silent_p.G577G	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	680					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGACAGATGGGAGACAGTCCA	0.443000													16	15					0	0	0.003163	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660993	95660993	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:95660993G>T	ENST00000371408.3	+	3	902	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	SLC35G1_ENST00000427197.1_Missense_Mutation_p.G282W			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	282	DUF6 2.					integral to membrane		p.G281R(1)									GCCTTACTGTGGGTTGGACAG	0.433000													20	44					7.45023e-12	9.64198e-12	0.010504	1	0
GLI3	2737	broad.mit.edu	37	7	42005090	42005090	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:42005090C>G	ENST00000395925.3	-	15	3665	c.3581G>C	c.(3580-3582)tGc>tCc	p.C1194S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1194					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CATGCCGTTGCAGAACCCAAA	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				60	40					0	0	0.014410	0	0
GTF3C1	2975	broad.mit.edu	37	16	27509024	27509024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:27509024C>A	ENST00000356183.4	-	14	2299	c.2284G>T	c.(2284-2286)Gga>Tga	p.G762*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.G762*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	762						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCATCCGTCCACTTTCTGAT	0.468000													8	34					0.000157383	0.000166036	0.003080	1	0
CSMD3	114788	broad.mit.edu	37	8	113871459	113871459	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:113871459C>G	ENST00000297405.5	-	11	1914	c.1670G>C	c.(1669-1671)gGt>gCt	p.G557A	CSMD3_ENST00000343508.3_Missense_Mutation_p.G517A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G557A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G453A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	557	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTAAAGGTACCACTTGGTCC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	50					0	0	0.001855	0	0
C1QL1	10882	broad.mit.edu	37	17	43045021	43045021	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:43045021G>A	ENST00000253407.3	-	1	418	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	132	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				GGCCGGCGTAGAAGGCCACGC	0.682000													19	49					0	0	0.010504	0	0
COL12A1	1303	broad.mit.edu	37	6	75827178	75827178	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:75827178A>G	ENST00000322507.8	-	47	7748	c.7439T>C	c.(7438-7440)gTg>gCg	p.V2480A	COL12A1_ENST00000416123.2_Missense_Mutation_p.V2480A|COL12A1_ENST00000483888.2_Missense_Mutation_p.V2480A|COL12A1_ENST00000345356.6_Missense_Mutation_p.V1316A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2480	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CACAATGAACACGTGCCGTTC	0.423000													26	59					0	0	0.003330	0	0
MXRA8	54587	broad.mit.edu	37	1	1289418	1289418	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:1289418A>T	ENST00000309212.6	-	8	1244	c.1214T>A	c.(1213-1215)aTc>aAc	p.I405N	MXRA8_ENST00000445648.2_Missense_Mutation_p.I405N|MXRA8_ENST00000342753.4_Missense_Mutation_p.I304N	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	405				I -> V (in Ref. 2; BAB55010).		integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCTAGCTGGATGTCCTCACT	0.632000													46	31					0	0	0.014410	0	0
P2RY2	5029	broad.mit.edu	37	11	72945769	72945769	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:72945769C>G	ENST00000311131.2	+	3	1032	c.565C>G	c.(565-567)Ccc>Gcc	p.P189A	P2RY2_ENST00000393597.2_Missense_Mutation_p.P189A|P2RY2_ENST00000393596.2_Missense_Mutation_p.P189A	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	189					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CACCTCGGCACCCGAGCTCTT	0.662000													15	25					0	0	0.006122	0	0
JADE3	9767	broad.mit.edu	37	X	46918164	46918164	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:46918164C>A	ENST00000218343.4	+	11	2455	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	PHF16_ENST00000397189.1_Silent_p.T719T	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		719					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TTAAAGAGACCACCAATAGGT	0.498000													12	32					6.40141e-05	6.85074e-05	0.010729	1	0
CCDC64B	146439	broad.mit.edu	37	16	3080764	3080764	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3080764C>T	ENST00000572449.1	-	4	610	c.548G>A	c.(547-549)gGa>gAa	p.G183E	CCDC64B_ENST00000573514.1_5'UTR|CCDC64B_ENST00000389347.4_Missense_Mutation_p.G183E			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	183										breast(1)|endometrium(2)|large_intestine(1)	4						CTGGCACTGTCCCCGAAGGGC	0.627000													10	12					0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181764180	181764180	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:181764180G>T	ENST00000526775.1	+	44	6187	c.6022_splice	c.e44+1	p.G2008_splice	CACNA1E_ENST00000360108.3_Splice_Site_p.G2051_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.G1634_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.G2021_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.G1959_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.G2027_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.G2070_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2070					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCTGATTCAGGTGAGGAGGT	0.527000													22	22					2.21704e-12	2.90643e-12	0.016522	1	0
SLC16A7	9194	broad.mit.edu	37	12	60169063	60169063	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:60169063C>T	ENST00000261187.4	+	4	1151	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SLC16A7_ENST00000543448.1_Silent_p.L230L|SLC16A7_ENST00000547379.1_Silent_p.L329L|SLC16A7_ENST00000552024.1_Silent_p.L329L|SLC16A7_ENST00000552432.1_Silent_p.L329L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	329						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TGTGTCACCTCTTGTGCCCAC	0.418000													83	143					0	0	0.014410	0	0
TMTC1	83857	broad.mit.edu	37	12	29664978	29664978	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:29664978T>A	ENST00000256062.5	-	17	2655	c.2182A>T	c.(2182-2184)Aag>Tag	p.K728*	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.K898*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.K860*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.K836*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	836						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTCCTACCTTGATGTGTTGG	0.433000													89	154					0	0	0.014410	0	0
SCUBE1	80274	broad.mit.edu	37	22	43627882	43627882	+	Splice_Site	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:43627882C>G	ENST00000360835.3	-	8	971		c.e8-1			NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCGTTGATGTCTGTGGGAGCC	0.637000													10	26					0	0	0.008291	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464707	37464707	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:37464707C>A	ENST00000299824.1	+	2	328	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R47S	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	47					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTTGCAGCACCGCAAGCGAAA	0.672000													7	13					0.00198382	0.00204254	0.001984	1	0
SCN5A	6331	broad.mit.edu	37	3	38622493	38622493	+	Missense_Mutation	SNP	C	C	T	rs137854617		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:38622493C>T	ENST00000413689.1	-	17	3350	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	SCN5A_ENST00000443581.1_Missense_Mutation_p.E1053K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1053K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1053K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1053K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1053K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1053K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1053K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1053K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1053K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1053			E -> K (in BRS1; also found in patients with atrial fibrillation; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGTCTGACTCGGCCACAGCG	0.627000													26	19					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32012931	32012931	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:32012931C>A	ENST00000375244.3	-	32	10980	c.10779G>T	c.(10777-10779)acG>acT	p.T3593T	TNXB_ENST00000451343.1_Silent_p.T22T|TNXB_ENST00000375247.2_Silent_p.T3591T			P22105	TENX_HUMAN	tenascin XB	3638					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTTCGTGTCCTCAT	0.637000													15	85					2.23348e-06	2.47843e-06	0.004007	1	0
CDH23	64072	broad.mit.edu	37	10	73559326	73559326	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:73559326T>A	ENST00000224721.6	+	51	7322	c.7317T>A	c.(7315-7317)ttT>ttA	p.F2439L	CDH23_ENST00000398788.3_Missense_Mutation_p.F194L|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2434	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGGCAACTTTGCACTCATTG	0.557000													37	118					0	0	0.004289	0	0
DYNLL1	8655	broad.mit.edu	37	12	120934291	120934291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:120934291G>T	ENST00000550845.1	+	2	191	c.67G>T	c.(67-69)Gag>Tag	p.E23*	DYNLL1_ENST00000552870.1_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000548214.1_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000548342.1_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000550178.1_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000392509.2_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000549989.1_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000242577.6_Nonsense_Mutation_p.E23*|DYNLL1_ENST00000392508.2_Nonsense_Mutation_p.E23*			P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	23					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCGGTGGAGTGCGCTAC	0.572000													58	111					5.47352e-35	9.3293e-35	0.014410	1	0
ANKRD17	26057	broad.mit.edu	37	4	73957889	73957889	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:73957889C>G	ENST00000358602.4	-	29	5572	c.5456G>C	c.(5455-5457)gGg>gCg	p.G1819A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1706A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1568A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1819					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGATGACCCTATTTTGGA	0.393000													21	78					0	0	0.012319	0	0
FAT4	79633	broad.mit.edu	37	4	126373060	126373060	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:126373060G>T	ENST00000394329.3	+	9	10902	c.10889G>T	c.(10888-10890)gGt>gTt	p.G3630V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1928V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3630					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						TTGTTTCCCGGTGGGATTTTA	0.448000													53	21					1.07234e-20	1.60635e-20	0.014410	1	0
MEX3D	399664	broad.mit.edu	37	19	1555342	1555342	+	Silent	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:1555342T>C	ENST00000388824.6	-	3	1988	c.1989A>G	c.(1987-1989)caA>caG	p.Q663Q	MEX3D_ENST00000402693.4_3'UTR	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	0					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACTGTCGTTGAAGGGCTG	0.562000													4	24					0	0	0.014758	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070030	114070030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:114070030C>A	ENST00000462705.1	-	11	1497	c.676G>T	c.(676-678)Gag>Tag	p.E226*	ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.E226*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.E226*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.E226*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.E226*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.E299*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.E226*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGTAGCGCTCCATCTGCTGC	0.652000													75	45					8.21609e-47	1.43782e-46	0.014410	1	0
PMFBP1	83449	broad.mit.edu	37	16	72166849	72166849	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:72166849C>A	ENST00000537465.1	-	10	1403	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	PMFBP1_ENST00000237353.10_Missense_Mutation_p.K415N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K270N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	415										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTGTCAGTTTCTTCTCCAGCT	0.488000													69	31					5.80444e-35	9.87819e-35	0.014410	1	0
OR4C6	219432	broad.mit.edu	37	11	55433244	55433244	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55433244G>T	ENST00000314259.3	+	1	631	c.602G>T	c.(601-603)aGt>aTt	p.S201I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCCTCAACAGTGGGATGATG	0.468000													50	72					2.24722e-20	3.35726e-20	0.014410	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72200383	72200383	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:72200383G>A	ENST00000555818.1	+	19	5273	c.4924_splice	c.e19-1	p.G1642_splice	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000537413.1_Splice_Site_p.G1096_splice	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1642					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.G1642A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTCCCGCAGGAGAGTTCTCA	0.557000													23	44					0	0	0.003954	0	0
LDB1	8861	broad.mit.edu	37	10	103870648	103870648	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:103870648C>G	ENST00000361198.5	-	5	845	c.222G>C	c.(220-222)ctG>ctC	p.L74L	LDB1_ENST00000425280.1_Silent_p.L110L|LDB1_ENST00000490751.1_5'UTR	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	110					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCCATCCTCCAGGCAGAAAG	0.498000													30	39					0	0	0.010818	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499983	104499983	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:104499983C>A	ENST00000361820.3	-	1	879	c.279G>T	c.(277-279)ccG>ccT	p.P93P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	93					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCGTGCGCCCGGCGAGGGCG	0.801000													9	4					0.000274275	0.0002861	0.004482	1	0
SFSWAP	6433	broad.mit.edu	37	12	132209984	132209984	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:132209984G>T	ENST00000261674.4	+	5	782	c.641G>T	c.(640-642)cGc>cTc	p.R214L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R214L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	214					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						ATCATCGAGCGCACGGCCAGC	0.552000													32	63					9.78485e-24	1.54039e-23	0.013726	1	0
OR4M2	390538	broad.mit.edu	37	15	22368924	22368924	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:22368924G>T	ENST00000332663.2	+	1	447	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTGCTCACAGTGATGGCCTT	0.483000													84	125					3.23364e-46	5.64112e-46	0.014410	1	0
NRXN1	9378	broad.mit.edu	37	2	50280690	50280690	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:50280690T>C	ENST00000404971.1	-	22	5306	c.3967A>G	c.(3967-3969)Ata>Gta	p.I1323V	NRXN1_ENST00000401669.2_Missense_Mutation_p.I1283V|NRXN1_ENST00000401710.1_Missense_Mutation_p.I271V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1275V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1253V|NRXN1_ENST00000342183.5_Missense_Mutation_p.I218V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1253V|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1275V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1253					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGCCAATTATTATGGTTGCT	0.438000													14	53					0	0	0.003163	0	0
DHX57	90957	broad.mit.edu	37	2	39075409	39075409	+	Splice_Site	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:39075409A>T	ENST00000295373.6	-	10	2291		c.e10+1			NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57								ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CATTTTATTCACCTGGTATAG	0.313000													12	34					0	0	0.013537	0	0
DCDC1	341019	broad.mit.edu	37	11	31329214	31329214	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:31329214G>T	ENST00000597505.1	-	2	405	c.406C>A	c.(406-408)Cct>Act	p.P136T	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.P136T			P59894	DCDC1_HUMAN	doublecortin domain containing 1	136					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCACTGACAGGTCTGTTTCTC	0.373000													31	59					5.45727e-16	7.67881e-16	0.008361	1	0
GPR124	25960	broad.mit.edu	37	8	37687390	37687390	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:37687390G>A	ENST00000315215.7	+	6	939	c.576G>A	c.(574-576)ctG>ctA	p.L192L	GPR124_ENST00000412232.2_Silent_p.L192L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	192	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGAGTTCCTGACCTGTGACT	0.672000													11	52					0	0	0.008291	0	0
CHD2	1106	broad.mit.edu	37	15	93515119	93515119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:93515119G>T	ENST00000394196.4	+	18	3382	c.2314G>T	c.(2314-2316)Gaa>Taa	p.E772*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.E772*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	772					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TAAACCCCCTGAAGAAAATGA	0.388000													19	37					3.32936e-07	3.7812e-07	0.006122	1	0
USP29	57663	broad.mit.edu	37	19	57641309	57641309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:57641309C>A	ENST00000254181.4	+	4	1720	c.1266C>A	c.(1264-1266)tgC>tgA	p.C422*	USP29_ENST00000598197.1_Nonsense_Mutation_p.C422*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	422					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTGTTTGCCCTGTTGTTG	0.383000													37	30					6.53348e-20	9.7216e-20	0.003755	1	0
PDLIM7	9260	broad.mit.edu	37	5	176915218	176915218	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:176915218A>T	ENST00000355841.2	-	10	967	c.901T>A	c.(901-903)Tac>Aac	p.Y301N	PDLIM7_ENST00000359895.2_Missense_Mutation_p.Y267N|PDLIM7_ENST00000356618.4_Missense_Mutation_p.V280E|PDLIM7_ENST00000393551.1_Missense_Mutation_p.V280E	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	301	LIM zinc-binding 1.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGGGTGGTACGCGTGGCCC	0.637000													36	27					0	0	0.004878	0	0
PRPF4B	8899	broad.mit.edu	37	6	4052958	4052958	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:4052958A>T	ENST00000337659.6	+	11	2417	c.2317A>T	c.(2317-2319)Aac>Tac	p.N773Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.N759Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	773	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAAAAGCATGAACTTACGAGA	0.299000													7	18					0	0	0.001984	0	0
POP1	10940	broad.mit.edu	37	8	99158833	99158833	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:99158833G>T	ENST00000401707.2	+	12	1713	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V	POP1_ENST00000349693.3_Silent_p.V544V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	544					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGGAGGGTGTGCCTGTGGAAT	0.398000													25	68					1.16021e-09	1.40513e-09	0.007291	1	0
ACAN	176	broad.mit.edu	37	15	89390529	89390529	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:89390529G>T	ENST00000439576.2	+	8	1859	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	ACAN_ENST00000558207.1_Missense_Mutation_p.E495D|ACAN_ENST00000561243.1_Missense_Mutation_p.E495D|ACAN_ENST00000352105.7_Missense_Mutation_p.E495D|ACAN_ENST00000559004.1_Missense_Mutation_p.E495D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	495					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTTGAGGAGGCACAGCAGG	0.692000													6	9					8.12818e-05	8.64056e-05	0.001984	1	0
TECRL	253017	broad.mit.edu	37	4	65175609	65175609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:65175609G>T	ENST00000381210.3	-	6	702	c.592C>A	c.(592-594)Ctt>Att	p.L198I	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.L198I	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	198					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTTTCCAAAAGGTATCGGATG	0.343000													37	36					2.2871e-25	3.66792e-25	0.007835	1	0
TPH2	121278	broad.mit.edu	37	12	72388269	72388269	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:72388269A>C	ENST00000333850.3	+	8	1133	c.992A>C	c.(991-993)aAg>aCg	p.K331T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.K331M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCGGATCCTAAGTTTGCTCAG	0.398000													7	101					0	0	0.003080	0	0
ZNF394	84124	broad.mit.edu	37	7	99091842	99091842	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:99091842G>T	ENST00000337673.6	-	3	1199	c.996C>A	c.(994-996)caC>caA	p.H332Q	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	332					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTCAGACTTGTGAGGTTTCA	0.498000													86	50					2.88734e-31	4.78215e-31	0.014410	1	0
COL19A1	1310	broad.mit.edu	37	6	70859767	70859767	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:70859767C>A	ENST00000322773.4	+	29	2056	c.1954C>A	c.(1954-1956)Cca>Aca	p.P652T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P274T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	652	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCTGGGTTGCCAGGAACTCC	0.483000													34	26					5.43694e-19	7.96225e-19	0.005524	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453667	84453667	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:84453667G>T	ENST00000377084.2	-	1	2861	c.1976C>A	c.(1975-1977)tCc>tAc	p.S659Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	659						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTAATCTCGGACGCGGAGGA	0.552000													14	39					1.05317e-09	1.28107e-09	0.002450	1	0
USP43	124739	broad.mit.edu	37	17	9631591	9631591	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:9631591G>T	ENST00000570827.2	+	15	2797	c.1723G>T	c.(1723-1725)Ggt>Tgt	p.G575C	USP43_ENST00000285199.6_Missense_Mutation_p.G886C|USP43_ENST00000570475.1_Missense_Mutation_p.G881C			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	886					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CATTGAAAGAGGTCCAGCCGG	0.592000													9	27					5.4927e-09	6.53837e-09	0.004482	1	0
CPZ	8532	broad.mit.edu	37	4	8605878	8605878	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:8605878C>A	ENST00000382480.2	+	4	1061	c.261C>A	c.(259-261)gtC>gtA	p.V87V	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Silent_p.V224V|CPZ_ENST00000315782.6_Silent_p.V213V	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	224	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCTGCTGGTCATCGAGTTCT	0.701000													9	15					3.07112e-06	3.38096e-06	0.010729	1	0
MALAT1	378938	broad.mit.edu	37	11	65273562	65273562	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:65273562C>T	ENST00000534336.1	+	0	8330					NR_002819.2																						TGGCCTTTTTCTAGCTTAAAA	0.413000													9	64					0	0	0.006214	0	0
FAM47B	170062	broad.mit.edu	37	X	34962111	34962111	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:34962111G>T	ENST00000329357.5	+	1	1199	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	388										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCTGTCCGCGGCCTTTTGAG	0.572000													11	38					9.70103e-10	1.18261e-09	0.008291	1	0
FBXO47	494188	broad.mit.edu	37	17	37107921	37107921	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:37107921C>T	ENST00000378079.2	-	6	728	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	177										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CACTCAAGTTCATCCCAACCT	0.408000													19	38					0	0	0.012319	0	0
MICALL1	85377	broad.mit.edu	37	22	38327858	38327858	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:38327858C>T	ENST00000215957.6	+	10	2060	c.1934C>T	c.(1933-1935)cCa>cTa	p.P645L	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	645	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCAGCGTCCCCAGCCACAAAG	0.592000													24	72					0	0	0.003954	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540286	96540286	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:96540286G>T	ENST00000371321.3	+	4	594	c.512G>T	c.(511-513)gGc>gTc	p.G171V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	171					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCATCCTGGGCTGTGCTCCC	0.333000													46	75					9.87224e-16	1.38385e-15	0.014410	1	0
FAM83B	222584	broad.mit.edu	37	6	54792315	54792315	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:54792315G>T	ENST00000306858.7	+	4	735	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	207										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAATATTCGAGTGCGAACAGT	0.303000													19	26					1.87028e-06	2.08162e-06	0.012319	1	0
STK40	83931	broad.mit.edu	37	1	36807506	36807506	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:36807506G>A	ENST00000373129.3	-	12	1564	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	STK40_ENST00000373130.3_Silent_p.A391A|STK40_ENST00000373132.3_Silent_p.A386A|STK40_ENST00000359297.2_3'UTR	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	386						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TCTTCTCCTCGGCCAGCAGCA	0.642000													35	13					0	0	0.004289	0	0
KIF23	9493	broad.mit.edu	37	15	69709797	69709797	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:69709797C>A	ENST00000260363.4	+	3	274	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	KIF23_ENST00000395392.2_Missense_Mutation_p.Q53K|KIF23_ENST00000559279.1_Missense_Mutation_p.Q53K|KIF23_ENST00000352331.4_Missense_Mutation_p.Q53K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	53	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TACAACTGTTCAGCTTCATAC	0.413000													37	75					6.53348e-20	9.7216e-20	0.003755	1	0
TRIP6	7205	broad.mit.edu	37	7	100466258	100466258	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:100466258C>A	ENST00000200457.4	+	4	865	c.505C>A	c.(505-507)Ccc>Acc	p.P169T		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	169					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGCCTTCCCCGTGCAAGT	0.701000													30	17					1.13719e-10	1.41418e-10	0.008361	1	0
L2HGDH	79944	broad.mit.edu	37	14	50760895	50760895	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:50760895C>G	ENST00000267436.4	-	4	875	c.478G>C	c.(478-480)Ggt>Cgt	p.G160R	L2HGDH_ENST00000261699.4_Missense_Mutation_p.G160R|L2HGDH_ENST00000555610.1_Missense_Mutation_p.G160R|L2HGDH_ENST00000555423.1_Missense_Mutation_p.G160R|L2HGDH_ENST00000421284.3_Missense_Mutation_p.G160R			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	160					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CCCGGGACACCATTCTGGAGG	0.418000													17	38					0	0	0.006122	0	0
LAMA5	3911	broad.mit.edu	37	20	60921767	60921767	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:60921767G>C	ENST00000252999.3	-	8	1228	c.1162C>G	c.(1162-1164)Cag>Gag	p.Q388E	LAMA5_ENST00000370692.3_Missense_Mutation_p.Q388E|LAMA5_ENST00000370677.3_Missense_Mutation_p.Q388E	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	388	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCACCCTGATAGGTGCCA	0.657000													20	62					0	0	0.010504	0	0
SH2D4B	387694	broad.mit.edu	37	10	82363483	82363483	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:82363483G>A	ENST00000339284.2	+	5	1222	c.792G>A	c.(790-792)gaG>gaA	p.E264E	SH2D4B_ENST00000470604.2_Silent_p.E263E|SH2D4B_ENST00000313455.4_Silent_p.E215E	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGAGCCATGAGCAGGAGGCAA	0.677000													9	20					0	0	0.004482	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241929	104241929	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:104241929C>A	ENST00000369905.4	-	8	817	c.754G>T	c.(754-756)Ggt>Tgt	p.G252C	ACTR1A_ENST00000545684.1_Missense_Mutation_p.G178C|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Missense_Mutation_p.G205C|ACTR1A_ENST00000487599.1_Missense_Mutation_p.G252C	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	252					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGGGAAGGACCAATCTGCAGG	0.572000													39	61					1.30998e-17	1.86208e-17	0.005524	1	0
BNC1	646	broad.mit.edu	37	15	83935591	83935591	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:83935591C>T	ENST00000345382.2	-	3	517	c.432G>A	c.(430-432)ctG>ctA	p.L144L	BNC1_ENST00000569704.1_Silent_p.L137L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	144					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGTACCTGCAGTACGTATC	0.473000													46	92					0	0	0.014410	0	0
MYO16	23026	broad.mit.edu	37	13	109779720	109779720	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:109779720C>G	ENST00000356711.2	+	31	3933	c.3807C>G	c.(3805-3807)ggC>ggG	p.G1269G	MYO16_ENST00000457511.2_Silent_p.G781G|MYO16_ENST00000357550.2_Silent_p.G1269G	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1269					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCGTTGGCCCGTCCATCT	0.632000													8	22					0	0	0.003080	0	0
MYLIP	29116	broad.mit.edu	37	6	16144081	16144081	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:16144081C>G	ENST00000349606.4	+	4	775	c.271C>G	c.(271-273)Cac>Gac	p.H91D	MYLIP_ENST00000356840.3_Missense_Mutation_p.H272D			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	272	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AACAGAGACGCACGCATTCTA	0.522000													28	123					0	0	0.007291	0	0
OR4D1	26689	broad.mit.edu	37	17	56232889	56232889	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:56232889C>T	ENST00000268912.5	+	1	396	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCTACATAGCCATCTCCCAGC	0.552000													13	66					0	0	0.013537	0	0
OPA1	4976	broad.mit.edu	37	3	193360811	193360811	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:193360811G>A	ENST00000361510.2	+	13	1512	c.1278G>A	c.(1276-1278)gtG>gtA	p.V426V	OPA1_ENST00000361150.2_Silent_p.V372V|OPA1_ENST00000361828.2_Silent_p.V389V|OPA1_ENST00000392438.3_Silent_p.V371V|OPA1_ENST00000361908.3_Silent_p.V408V|OPA1_ENST00000361715.2_Silent_p.V390V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	371					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)		GGAAAAATGTGAAAGAAGGCT	0.313000													3	21					0	0	0.009096	0	0
CCDC27	148870	broad.mit.edu	37	1	3679916	3679916	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:3679916C>T	ENST00000294600.2	+	7	1283	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	400	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGAAGGGCCTCCTCCCTG	0.627000													23	12					0	0	0.012319	0	0
CCDC105	126402	broad.mit.edu	37	19	15121888	15121888	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:15121888T>A	ENST00000292574.3	+	1	333	c.251T>A	c.(250-252)tTg>tAg	p.L84*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	84					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGCGGCACCTTGGAGAAGCCG	0.701000													3	4					0	0	0.004672	0	0
OTOGL	283310	broad.mit.edu	37	12	80658853	80658853	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:80658853G>T	ENST00000458043.2	+	19	2066	c.2060G>T	c.(2059-2061)gGg>gTg	p.G687V	OTOGL_ENST00000547103.1_Missense_Mutation_p.G687V	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGCCCTGGGCTGTACTAT	0.522000													104	159					1.11883e-47	1.96103e-47	0.014410	1	0
GTF3C2	2976	broad.mit.edu	37	2	27556629	27556629	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:27556629T>A	ENST00000359541.2	-	12	2054	c.1625A>T	c.(1624-1626)cAg>cTg	p.Q542L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q542L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	542						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCCACCTGCAGAGTTGC	0.527000													28	74					0	0	0.007291	0	0
CCR7	1236	broad.mit.edu	37	17	38711510	38711510	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:38711510C>T	ENST00000246657.2	-	3	683	c.621G>A	c.(619-621)gcG>gcA	p.A207A	CCR7_ENST00000579344.1_Silent_p.A201A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGCATCGCATCGCTTGCTCAC	0.572000													9	24					0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	216380685	216380685	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:216380685G>C	ENST00000366943.2	-	16	3632	c.3246C>G	c.(3244-3246)gcC>gcG	p.A1082A	USH2A_ENST00000307340.3_Silent_p.A1082A|USH2A_ENST00000366942.3_Silent_p.A1082A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1082	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAAGCCAGTGGGCATTTGGAG	0.418000										HNSCC(13;0.011)			18	38					0	0	0.006122	0	0
ITLN1	55600	broad.mit.edu	37	1	160851778	160851778	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:160851778G>C	ENST00000326245.3	-	4	489	c.374C>G	c.(373-375)tCt>tGt	p.S125C		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	125	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGCCTCTGCAGATCCAAAGGT	0.617000													30	106					0	0	0.007291	0	0
MIOS	54468	broad.mit.edu	37	7	7622761	7622761	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:7622761G>T	ENST00000340080.4	+	6	1827	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.S469I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	469										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGGTGGAAAGCAGCAGACAT	0.303000													18	18					6.49762e-13	8.60935e-13	0.006122	1	0
COL16A1	1307	broad.mit.edu	37	1	32130777	32130777	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:32130777T>C	ENST00000373672.3	-	56	4067	c.3551A>G	c.(3550-3552)gAg>gGg	p.E1184G	COL16A1_ENST00000271069.6_Missense_Mutation_p.E1184G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1184	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCTCACCTTCTCTGCTTGAGG	0.582000													66	38					0	0	0.014410	0	0
NLGN2	57555	broad.mit.edu	37	17	7319154	7319154	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:7319154C>G	ENST00000302926.2	+	6	1435	c.1362C>G	c.(1360-1362)ctC>ctG	p.L454L	NLGN2_ENST00000575301.1_Silent_p.L454L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	454					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGCTGGCGCTCTTTACTGACC	0.577000													70	42					0	0	0.014410	0	0
PCDH10	57575	broad.mit.edu	37	4	134071836	134071836	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:134071836G>A	ENST00000264360.4	+	1	1367	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	181	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		CAACCGATTCGCTGAGCTGGT	0.642000													17	73					0	0	0.004990	0	0
VPS13D	55187	broad.mit.edu	37	1	12381926	12381926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:12381926C>T	ENST00000358136.3	+	33	7739	c.7609C>T	c.(7609-7611)Caa>Taa	p.Q2537*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q2537*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2537					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)		GGATCCCGTACAAATTCAAAT	0.398000													21	42					0	0	0.010504	0	0
ENTPD6	955	broad.mit.edu	37	20	25187891	25187891	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:25187891C>G	ENST00000360031.2	+	3	413	c.231C>G	c.(229-231)gcC>gcG	p.A77A	ENTPD6_ENST00000354989.5_Silent_p.A61A|ENTPD6_ENST00000433259.2_Silent_p.A78A|ENTPD6_ENST00000376652.4_Silent_p.A78A	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	78						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCAGGGCAGCCCCGGGGGCCC	0.652000													35	63					0	0	0.013726	0	0
ZNF366	167465	broad.mit.edu	37	5	71740080	71740080	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:71740080C>A	ENST00000318442.5	-	5	2228	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCAGGACACCGGCTGTCTGT	0.602000													47	29					4.86159e-25	7.77436e-25	0.014410	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957127	143957127	+	Splice_Site	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:143957127C>T	ENST00000292427.4	-	6	1154		c.e6+1		CYP11B1_ENST00000517471.1_Splice_Site|CYP11B1_ENST00000377675.3_Splice_Site	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCAGCACCCACCGCAAGGTCT	0.667000									Familial Hyperaldosteronism type I				47	51					0	0	0.014410	0	0
CD22	933	broad.mit.edu	37	19	35823621	35823621	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:35823621C>G	ENST00000085219.5	+	3	272	c.206C>G	c.(205-207)tCg>tGg	p.S69W	CD22_ENST00000544992.2_Missense_Mutation_p.S69W|CD22_ENST00000536635.2_Missense_Mutation_p.S69W|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.S69W|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.S69W	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	69	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AAGAACACCTCGAAGTTTGAT	0.498000													14	99					0	0	0.001855	0	0
MDP1	145553	broad.mit.edu	37	14	24685148	24685148	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:24685148G>T	ENST00000288087.7	-	1	125	c.14C>A	c.(13-15)cCg>cAg	p.P5Q	MDP1_ENST00000396833.2_Missense_Mutation_p.P5Q|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_Intron|NEDD8-MDP1_ENST00000534348.1_Intron	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TGCCAGCTTCGGTAGCCGCGC	0.622000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	39					1.00905e-13	1.35636e-13	0.008871	1	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													7	106					0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1245999	1245999	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:1245999G>T	ENST00000324642.3	+	12	1816	c.1693G>T	c.(1693-1695)Ggc>Tgc	p.G565C		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	565					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTCTACCCGGGCTGGGCGCG	0.726000													30	17					2.46105e-21	3.72674e-21	0.010818	1	0
SPACA3	124912	broad.mit.edu	37	17	31318969	31318969	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:31318969C>T	ENST00000269053.3	+	1	83	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	SPACA3_ENST00000394638.1_Silent_p.L5L|SPACA3_ENST00000580599.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	5					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.L5L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGTCTCAGCTCTGCGGGGAGC	0.607000													16	20					0	0	0.004007	0	0
ERC1	23085	broad.mit.edu	37	12	1192546	1192546	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:1192546G>C	ENST00000397203.2	+	3	1292	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	ERC1_ENST00000546231.2_Missense_Mutation_p.E296Q|ERC1_ENST00000360905.4_Missense_Mutation_p.E296Q|ERC1_ENST00000355446.5_Missense_Mutation_p.E296Q|ERC1_ENST00000543086.3_Missense_Mutation_p.E296Q|ERC1_ENST00000589028.1_Missense_Mutation_p.E296Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	296					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.E296Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GCTGCGTATTGAGACTCAAAA	0.478000													30	49					0	0	0.007291	0	0
PSG1	5669	broad.mit.edu	37	19	43372271	43372271	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:43372271T>C	ENST00000244296.2	-	5	1362	c.1225A>G	c.(1225-1227)Atg>Gtg	p.M409V	PSG1_ENST00000595356.1_Missense_Mutation_p.M409V|PSG1_ENST00000595124.1_Missense_Mutation_p.M316V|PSG1_ENST00000312439.6_Missense_Mutation_p.M409V|PSG1_ENST00000436291.2_Missense_Mutation_p.M409V|PSG1_ENST00000403380.3_Missense_Mutation_p.M316V	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCGACTGTCATGGATTTGGAG	0.458000													145	273					0	0	0.014410	0	0
MFSD6	54842	broad.mit.edu	37	2	191301058	191301058	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:191301058C>G	ENST00000392328.1	+	3	627	c.303C>G	c.(301-303)agC>agG	p.S101R	MFSD6_ENST00000281416.7_Missense_Mutation_p.S101R	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	101					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCTCCAAGCCAGAGTGGAC	0.418000													69	70					0	0	0.014410	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64135637	64135637	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:64135637G>T	ENST00000528057.1	+	10	1193	c.1105G>T	c.(1105-1107)Gac>Tac	p.D369Y	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.D369Y|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D369Y	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	369	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CATTCTCTTTGACCACAACAA	0.652000													43	61					1.6237e-14	2.22012e-14	0.013114	1	0
APP	351	broad.mit.edu	37	21	27269947	27269947	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:27269947C>T	ENST00000358918.3	-	15	2147	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	APP_ENST00000359726.3_Missense_Mutation_p.E612K|APP_ENST00000439274.2_Missense_Mutation_p.E612K|APP_ENST00000357903.3_Missense_Mutation_p.E649K|APP_ENST00000440126.3_Missense_Mutation_p.E644K|APP_ENST00000448388.2_Missense_Mutation_p.E558K|APP_ENST00000346798.3_Missense_Mutation_p.E668K|APP_ENST00000348990.5_Missense_Mutation_p.E593K|APP_ENST00000354192.3_Missense_Mutation_p.E537K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	668					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ATCTTCACTTCAGAGATCTCC	0.343000													10	84					0	0	0.001855	0	0
MYH6	4624	broad.mit.edu	37	14	23865568	23865568	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:23865568C>A	ENST00000405093.3	-	20	2424	c.2354G>T	c.(2353-2355)cGc>cTc	p.R785L	MYH6_ENST00000356287.3_Missense_Mutation_p.R785L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	785	IQ.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGTGATGATGCGGCTCAGCCT	0.607000													24	49					5.35356e-11	6.72518e-11	0.016522	1	0
ZNF423	23090	broad.mit.edu	37	16	49669913	49669913	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:49669913T>A	ENST00000561648.1	-	4	3203	c.3150A>T	c.(3148-3150)tcA>tcT	p.S1050S	ZNF423_ENST00000535559.1_Silent_p.S933S|ZNF423_ENST00000562871.1_Silent_p.S990S|ZNF423_ENST00000567169.1_Silent_p.S933S|ZNF423_ENST00000562520.1_Silent_p.S990S|ZNF423_ENST00000563137.2_Silent_p.S990S|ZNF423_ENST00000262383.2_Silent_p.S1050S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1050					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGACGCCGCTGAGCTGCCCG	0.612000													24	21					0	0	0.014323	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091423	19091423	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:19091423C>T	ENST00000365494.1	+	0	95																											agagaggtagcgttttctcct	0.493000													38	686					0	0	0.008740	0	0
DNAH3	55567	broad.mit.edu	37	16	21109957	21109957	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:21109957G>C	ENST00000261383.3	-	17	2499	c.2500C>G	c.(2500-2502)Cgg>Ggg	p.R834G	DNAH3_ENST00000415178.1_Missense_Mutation_p.R834G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	834	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAAACGCCCGATTTAGGTTC	0.418000													22	57					0	0	0.016522	0	0
CELSR1	9620	broad.mit.edu	37	22	46760117	46760117	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:46760117C>A	ENST00000262738.3	-	34	8810	c.8811G>T	c.(8809-8811)ccG>ccT	p.P2937P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2937					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGTCAGCGGCGGCGGGTAGG	0.657000													19	70					5.3912e-06	5.89431e-06	0.006122	1	0
POTEM	641455	broad.mit.edu	37	14	20020044	20020044	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:20020044G>T	ENST00000551509.1	-	1	228	c.177C>A	c.(175-177)agC>agA	p.S59R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	59										endometrium(4)|kidney(1)|lung(4)	9						TGCCCATCTTGCTCCTGAGTG	0.607000													45	238					2.27459e-33	3.82999e-33	0.014410	1	0
ZNF521	25925	broad.mit.edu	37	18	22806052	22806052	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:22806052C>T	ENST00000361524.3	-	4	1978	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	ZNF521_ENST00000538137.2_Silent_p.V610V|ZNF521_ENST00000584787.1_Silent_p.V390V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	610					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTCTATGGCCACAGGAGATA	0.448000			T	PAX5	ALL								27	14					0	0	0.003954	0	0
MUC2	4583	broad.mit.edu	37	11	1093895	1093895	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:1093895C>T	ENST00000441003.2	+	30	5741	c.5714C>T	c.(5713-5715)aCa>aTa	p.T1905I	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T193I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1931						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAGGCCACACACTGTCTCCA	0.642000													42	74					0	0	0.006230	0	0
C6orf1	221491	broad.mit.edu	37	6	34214912	34214912	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:34214912C>A	ENST00000476320.1	-	4	716	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	C6orf1_ENST00000394990.4_Missense_Mutation_p.A12S|C6orf1_ENST00000413013.2_5'UTR|C6orf1_ENST00000481533.1_Missense_Mutation_p.A12S|C6orf1_ENST00000335352.3_5'UTR|C6orf1_ENST00000468145.1_Missense_Mutation_p.A12S	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	12						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		CAGGTGATGGCGCAGCCGGTC	0.627000													24	105					1.96895e-08	2.31653e-08	0.016522	1	0
ZNF730	100129543	broad.mit.edu	37	19	23328939	23328939	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:23328939G>A	ENST00000597761.2	+	4	1292	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATACTGGAGGGAAACCCTA	0.323000													3	5					0	0	0.004672	0	0
TRERF1	55809	broad.mit.edu	37	6	42236706	42236706	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:42236706G>A	ENST00000541110.1	-	5	1191	c.623C>T	c.(622-624)cCt>cTt	p.P208L	TRERF1_ENST00000372917.4_Missense_Mutation_p.P208L|TRERF1_ENST00000340840.2_Missense_Mutation_p.P208L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P208L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P208L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	208	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCAGGGTGAGGCTGCTGGGG	0.632000													103	62					0	0	0.014410	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464706	37464706	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:37464706C>A	ENST00000299824.1	+	2	327	c.138C>A	c.(136-138)caC>caA	p.H46Q	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.H46Q	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	46					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACTTGCAGCACCGCAAGCGAA	0.672000													7	13					0.00198382	0.00204254	0.001984	1	0
KRT1	3848	broad.mit.edu	37	12	53069373	53069373	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:53069373A>G	ENST00000252244.3	-	9	1597	c.1539T>C	c.(1537-1539)agT>agC	p.S513S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	513	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgccacctccacTGATGGTGG	0.607000													31	62					0	0	0.003755	0	0
CACNA1C	775	broad.mit.edu	37	12	2690809	2690809	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:2690809C>T	ENST00000399655.1	+	14	2214	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	CACNA1C_ENST00000399638.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S650F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S650F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S650F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S650F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S675F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S650F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S650F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S650F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	650					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTGTGCGCTCCATCGCCTCc	0.547000													5	10					0	0	0.014758	0	0
XCR1	2829	broad.mit.edu	37	3	46062455	46062455	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:46062455C>T	ENST00000309285.3	-	2	1341	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	XCR1_ENST00000542109.1_Missense_Mutation_p.G329S	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	329					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAGGAGGCGCCCTCATAGGCG	0.647000													15	4					0	0	0.002450	0	0
IGSF10	285313	broad.mit.edu	37	3	151164048	151164048	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:151164048C>G	ENST00000282466.3	-	4	3720	c.3721G>C	c.(3721-3723)Gct>Cct	p.A1241P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1241					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGTAAAGCAGGAGATGTT	0.393000													20	104					0	0	0.008871	0	0
SNTG1	54212	broad.mit.edu	37	8	51571162	51571162	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:51571162G>T	ENST00000522124.1	+	15	1638	c.977G>T	c.(976-978)tGg>tTg	p.W326L	SNTG1_ENST00000518864.1_Missense_Mutation_p.W326L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W326L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W326L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	326	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTGACCACCTGGGACTGGACG	0.313000													8	47					5.18039e-06	5.67498e-06	0.003080	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589970	140589970	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140589970C>A	ENST00000239450.2	+	1	1680	c.1491C>A	c.(1489-1491)caC>caA	p.H497Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.H160Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		497	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACCCGCACCTGCCCCTCG	0.672000													85	61					2.10502e-31	3.49685e-31	0.014410	1	0
ABCC8	6833	broad.mit.edu	37	11	17428910	17428910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:17428910C>A	ENST00000302539.4	-	24	3039	c.2914G>T	c.(2914-2916)Gag>Tag	p.E972*	ABCC8_ENST00000389817.3_Nonsense_Mutation_p.E971*	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	971					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTTCCTCCTCTTCCTCATCC	0.547000													30	69					3.03874e-20	4.53367e-20	0.015359	1	0
MEFV	4210	broad.mit.edu	37	16	3293590	3293590	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3293590G>T	ENST00000219596.1	-	10	1936	c.1897C>A	c.(1897-1899)Ccg>Acg	p.P633T	MEFV_ENST00000536379.1_Missense_Mutation_p.P422T|MEFV_ENST00000339854.4_Missense_Mutation_p.P453T|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AATCTTTGCGGGCCATCAGGC	0.512000													72	177					4.37588e-27	7.08931e-27	0.014410	1	0
TPTE	7179	broad.mit.edu	37	21	10941907	10941907	+	Splice_Site	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:10941907C>G	ENST00000298232.7	-	13	1109		c.e13+1		TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACCCTTACCTTGATTGGA	0.313000													29	99					0	0	0.010818	0	0
CEP170B	283638	broad.mit.edu	37	14	105360686	105360686	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:105360686G>A	ENST00000453495.1	+	17	4672	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K	CEP170B_ENST00000556508.1_Missense_Mutation_p.E1411K|CEP170B_ENST00000418279.1_Missense_Mutation_p.E1376K|CEP170B_ENST00000414716.3_Missense_Mutation_p.E1446K					centrosomal protein 170B																		CGCCGAGAACGAGGTGCCCAT	0.632000													12	47					0	0	0.001855	0	0
MB21D2	151963	broad.mit.edu	37	3	192516836	192516836	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:192516836T>G	ENST00000392452.2	-	2	1135	c.815A>C	c.(814-816)tAc>tCc	p.Y272S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	272										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGGCACCAAGTAAAACCCACT	0.522000													21	23					0	0	0.014323	0	0
RBMS3	27303	broad.mit.edu	37	3	29476318	29476318	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:29476318A>T	ENST00000434693.2	+	2	857	c.157A>T	c.(157-159)Agc>Tgc	p.S53C	RBMS3_ENST00000383767.2_Missense_Mutation_p.S54C|RBMS3_ENST00000273139.9_Missense_Mutation_p.S54C|RBMS3_ENST00000383766.2_Missense_Mutation_p.S53C|RBMS3_ENST00000456853.1_Missense_Mutation_p.S54C|RBMS3_ENST00000445033.1_Missense_Mutation_p.S54C|RBMS3_ENST00000396583.3_Missense_Mutation_p.S54C|RBMS3_ENST00000452462.1_Missense_Mutation_p.S54C	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	54						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				caacaacagcagcGGGGAACA	0.552000													33	20					0	0	0.009535	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996490	143996490	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:143996490C>A	ENST00000323110.2	-	3	569	c.567G>T	c.(565-567)caG>caT	p.Q189H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	189					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGATGCTGGGCTGGACGTCCA	0.637000									Familial Hyperaldosteronism type I				14	17					3.41278e-10	4.21112e-10	0.004990	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68249655	68249655	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:68249655T>C	ENST00000347230.4	-	21	4352	c.4214A>G	c.(4213-4215)cAt>cGt	p.H1405R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1405R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1405					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGGGAGAATGTAGGCCCAG	0.582000													31	63					0	0	0.008361	0	0
ARIH1	25820	broad.mit.edu	37	15	72810415	72810415	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:72810415C>T	ENST00000379887.4	+	2	697	c.383C>T	c.(382-384)gCa>gTa	p.A128V		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	128					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TAGAATCCAGCAACTATCACA	0.353000													8	28					0	0	0.004482	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352374	38352374	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:38352374G>T	ENST00000322350.5	+	5	832	c.486G>T	c.(484-486)tgG>tgT	p.W162C	EGFLAM_ENST00000354891.3_Missense_Mutation_p.W162C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	162	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCTGTCTTGGAAACCTGGAG	0.502000													47	342					4.18559e-23	6.52459e-23	0.014410	1	0
KCNU1	157855	broad.mit.edu	37	8	36793178	36793178	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:36793178C>A	ENST00000399881.3	+	27	3227	c.3190C>A	c.(3190-3192)Cag>Aag	p.Q1064K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1064						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TAAAGCATCACAGACAACAGA	0.378000													54	69					1.83081e-24	2.91098e-24	0.014410	1	0
UHRF2	115426	broad.mit.edu	37	9	6506037	6506037	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:6506037G>C	ENST00000276893.5	+	16	2435	c.2267G>C	c.(2266-2268)tGc>tCc	p.C756S	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	756					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CCATAGGATTGCCTACAGCGC	0.408000													47	17					0	0	0.014410	0	0
GON4L	54856	broad.mit.edu	37	1	155747449	155747449	+	Silent	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:155747449T>G	ENST00000437809.1	-	15	2177	c.2055A>C	c.(2053-2055)ccA>ccC	p.P685P	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.P685P|GON4L_ENST00000361040.5_Silent_p.P685P|GON4L_ENST00000271883.5_Silent_p.P685P			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	685					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCTGTGCTGGGTCCAGAA	0.448000													71	88					0	0	0.014410	0	0
PLB1	151056	broad.mit.edu	37	2	28814591	28814591	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:28814591A>T	ENST00000422425.2	+	30	2163	c.2119A>T	c.(2119-2121)Agg>Tgg	p.R707W	PLB1_ENST00000329020.6_Missense_Mutation_p.R406W|PLB1_ENST00000327757.5_Missense_Mutation_p.R718W	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	718	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTGCCATGCAGGGACAGAGC	0.577000													27	54					0	0	0.009535	0	0
PSMD1	5707	broad.mit.edu	37	2	231934803	231934803	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:231934803A>T	ENST00000308696.6	+	6	737	c.575A>T	c.(574-576)cAg>cTg	p.Q192L	PSMD1_ENST00000409643.1_Missense_Mutation_p.Q192L|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q192L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CAGAATAAACAGTTTCGGAAT	0.323000													26	21					0	0	0.005443	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058979	152058979	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:152058979C>G	ENST00000368806.1	-	3	1243	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	393							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GACCTCTCCTCTCTTTCCTTT	0.473000													49	140					0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857977	9857977	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:9857977G>T	ENST00000396573.2	-	14	3733	c.3424C>A	c.(3424-3426)Ccc>Acc	p.P1142T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1142T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1142T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1142T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1142T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P985T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1142					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGTTCTCGGGCAGGGTCACA	0.522000													29	73					8.58068e-18	1.22754e-17	0.007291	1	0
BAGE2	85319	broad.mit.edu	37	21	11039070	11039070	+	RNA	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr21:11039070C>A	ENST00000470054.1	-	0	1133									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGAAAGTTCAGAATCTTCT	0.393000													27	274					2.79863e-10	3.45713e-10	0.004656	1	0
SKIL	6498	broad.mit.edu	37	3	170110112	170110112	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:170110112C>G	ENST00000458537.3	+	6	2671	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	SKIL_ENST00000259119.4_Silent_p.L654L|SKIL_ENST00000426052.2_Silent_p.L634L|SKIL_ENST00000413427.2_Silent_p.L608L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	654					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGATGAACTCAGACAGGAAC	0.403000													40	70					0	0	0.006999	0	0
FMN2	56776	broad.mit.edu	37	1	240256638	240256638	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:240256638C>T	ENST00000319653.9	+	1	1459	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	410					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTTTCAAGCCCTACCCGCTC	0.682000													15	54					0	0	0.002450	0	0
CR1L	1379	broad.mit.edu	37	1	207871171	207871171	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:207871171A>T	ENST00000508064.2	+	7	1155	c.1095A>T	c.(1093-1095)ccA>ccT	p.P365P	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	365	Sushi 6.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCTATTTCCACTTAATCTCC	0.423000													64	198					0	0	0.014410	0	0
CEP170B	283638	broad.mit.edu	37	14	105353312	105353312	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:105353312G>A	ENST00000453495.1	+	12	2967	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L	CEP170B_ENST00000556508.1_Silent_p.L842L|CEP170B_ENST00000418279.1_Silent_p.L842L|CEP170B_ENST00000414716.3_Silent_p.L912L					centrosomal protein 170B																		ACACCCACCTGATCTTGAAGG	0.687000													6	55					0	0	0.001984	0	0
TSHR	7253	broad.mit.edu	37	14	81606129	81606129	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:81606129T>A	ENST00000541158.2	+	10	1121	c.799T>A	c.(799-801)Ttg>Atg	p.L267M	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L267M			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	267					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCACTTTCCTTGAGTTTCCT	0.493000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						13	43					0	0	0.013537	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031997	26031997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:26031997C>A	ENST00000244661.2	-	1	291	c.292G>T	c.(292-294)Gag>Tag	p.E98*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGTAGGCCTCACAAGCCTCC	0.567000													30	82					3.65163e-15	5.05505e-15	0.006320	1	0
PHKB	5257	broad.mit.edu	37	16	47581457	47581457	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:47581457G>T	ENST00000455779.1	+	8	872	c.687G>T	c.(685-687)tcG>tcT	p.S229S	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.S229S|PHKB_ENST00000299167.8_Silent_p.S236S|PHKB_ENST00000323584.5_Silent_p.S236S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	236					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.S236S(2)|p.S229S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGCTACATTCGAGGTAATTTG	0.338000													11	26					1.08611e-07	1.2488e-07	0.010729	1	0
OR5D13	390142	broad.mit.edu	37	11	55540950	55540950	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55540950A>T	ENST00000361760.1	+	1	37	c.37A>T	c.(37-39)Act>Tct	p.T13S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAGCACACCCACTTTTATTCT	0.388000													31	66					0	0	0.012213	0	0
ARMC12	221481	broad.mit.edu	37	6	35716549	35716549	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:35716549G>T	ENST00000373866.3	+	6	947	c.925G>T	c.(925-927)Gcc>Tcc	p.A309S	ARMC12_ENST00000288065.2_Missense_Mutation_p.A336S|ARMC12_ENST00000373869.3_Missense_Mutation_p.A299S			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	309							binding										TCAGATCCAGGCCTGCAAGGT	0.552000													43	38					6.2361e-21	9.37944e-21	0.007835	1	0
RAF1	5894	broad.mit.edu	37	3	12650800	12650800	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:12650800C>A	ENST00000251849.4	-	4	794	c.355G>T	c.(355-357)Gcg>Tcg	p.A119S	RAF1_ENST00000542177.1_Missense_Mutation_p.A38S|RAF1_ENST00000442415.2_Missense_Mutation_p.A119S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	119	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCAAAGACGCAGCATCAGTA	0.348000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				31	57					6.00712e-18	8.63815e-18	0.012213	1	0
NIPBL	25836	broad.mit.edu	37	5	37048653	37048653	+	Missense_Mutation	SNP	G	G	C	rs80358361		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:37048653G>C	ENST00000282516.8	+	39	7138	c.6639G>C	c.(6637-6639)aaG>aaC	p.K2213N	NIPBL_ENST00000448238.2_Missense_Mutation_p.K2213N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2213					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGAAGTGAAGAATCTATATA	0.303000													5	54					0	0	0.001168	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058484	79058484	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:79058484C>A	ENST00000388820.4	-	19	3979	c.3769G>T	c.(3769-3771)Gtg>Ttg	p.V1257L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTCCGCCACGTCAGGACTA	0.682000													26	44					1.85244e-09	2.23619e-09	0.003330	1	0
UBA1	7317	broad.mit.edu	37	X	47065667	47065667	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47065667T>C	ENST00000335972.6	+	16	1945	c.1762T>C	c.(1762-1764)Tgt>Cgt	p.C588R	UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377351.4_Missense_Mutation_p.C588R	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	588	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGACCGCCGCTGTGTCTACTA	0.547000													4	13					0	0	0.009096	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													4	36					0	0	0.001168	0	0
OR4K17	390436	broad.mit.edu	37	14	20586030	20586030	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:20586030G>T	ENST00000315543.4	+	1	465	c.465G>T	c.(463-465)gtG>gtT	p.V155V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACAGATATGTGGCCATTTGTA	0.448000													19	56					6.94344e-10	8.50171e-10	0.006122	1	0
INS-IGF2	723961	broad.mit.edu	37	11	2170549	2170549	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:2170549T>A	ENST00000397270.1	-	3	272	c.214A>T	c.(214-216)Acg>Tcg	p.T72S	INS-IGF2_ENST00000481781.1_5'UTR|IGF2_ENST00000300632.5_5'UTR	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		72					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CAGGTTGACGTGGAGGAGGAG	0.592000													32	73					0	0	0.013726	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109355	145109355	+	RNA	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:145109355T>C	ENST00000401237.1	-	0	35					NR_030581.1																						AGTATTTTACTGAATCAGTGG	0.388000													29	13					0	0	0.010818	0	0
WDR33	55339	broad.mit.edu	37	2	128480604	128480604	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:128480604T>A	ENST00000322313.4	-	13	1464	c.1306A>T	c.(1306-1308)Aat>Tat	p.N436Y		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	436					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCCAGGCTATTAGGTTCGAGG	0.333000													20	19					0	0	0.012319	0	0
NBAS	51594	broad.mit.edu	37	2	15701392	15701392	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:15701392C>A	ENST00000281513.5	-	1	62	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	NBAS_ENST00000441750.1_Missense_Mutation_p.G13C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	13										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTGCAGTGCCTGGACTCAAA	0.592000													37	111					1.07637e-12	1.42111e-12	0.004878	1	0
SORCS1	114815	broad.mit.edu	37	10	108412239	108412239	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:108412239G>C	ENST00000263054.6	-	18	2383	c.2376C>G	c.(2374-2376)tgC>tgG	p.C792W	SORCS1_ENST00000369698.1_Missense_Mutation_p.C327W|SORCS1_ENST00000344440.6_Missense_Mutation_p.C792W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	792						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTTCCCTGGGCACTTCTGCG	0.512000													26	61					0	0	0.004656	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599636	136599636	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:136599636C>A	ENST00000531224.1	-	4	635	c.383G>T	c.(382-384)aGa>aTa	p.R128I	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R128I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R126I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R126I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R128I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R126I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	128					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R128K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCGGCGAGATCTGCTTCTGGA	0.463000													54	279					1.78197e-24	2.84144e-24	0.014410	1	0
ADAM19	8728	broad.mit.edu	37	5	156907982	156907982	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:156907982C>T	ENST00000257527.4	-	23	2810	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	ADAM19_ENST00000394020.1_Missense_Mutation_p.G913E|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	0					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCATCCCTCCAGCCCTCTG	0.517000													6	45					0	0	0.001168	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605711	77605711	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:77605711C>A	ENST00000319374.4	-	2	573	c.371G>T	c.(370-372)cGc>cTc	p.R124L	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	124						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GACGAAGTTGCGCATGTTCCT	0.602000													3	8					0.004672	0.00477496	0.004672	1	0
TNRC6B	23112	broad.mit.edu	37	22	40662323	40662323	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:40662323G>T	ENST00000454349.2	+	5	2300	c.2089G>T	c.(2089-2091)Ggc>Tgc	p.G697C	TNRC6B_ENST00000335727.8_Missense_Mutation_p.G697C|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	697					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GAACACAGGAGGCTGGAATGA	0.522000													6	9					3.59834e-05	3.85833e-05	0.001168	1	0
DST	667	broad.mit.edu	37	6	56535503	56535503	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:56535503A>T	ENST00000370754.5	-	9	1050	c.1051T>A	c.(1051-1053)Tgt>Agt	p.C351S	DST_ENST00000312431.6_Missense_Mutation_p.C173S|DST_ENST00000361203.3_Missense_Mutation_p.C173S|DST_ENST00000370769.4_Missense_Mutation_p.C173S|DST_ENST00000421834.2_Missense_Mutation_p.C173S|DST_ENST00000370788.2_Missense_Mutation_p.C173S			Q03001	DYST_HUMAN	dystonin	173					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)			AAATTTTCACACCGAATTCCA	0.388000													7	17					0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	186143744	186143744	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:186143744C>A	ENST00000271588.4	+	103	16142	c.15913C>A	c.(15913-15915)Cgg>Agg	p.R5305R	HMCN1_ENST00000367492.2_Silent_p.R5305R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5305	EGF-like 5; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAGGTTATCGGTCTCAAGG	0.423000													9	52					1.33987e-11	1.72004e-11	0.008291	1	0
TECRL	253017	broad.mit.edu	37	4	65175610	65175610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:65175610G>T	ENST00000381210.3	-	6	701	c.591C>A	c.(589-591)taC>taA	p.Y197*	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Nonsense_Mutation_p.Y197*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	197					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTTCCAAAAGGTATCGGATGT	0.348000													36	36					3.38236e-24	5.355e-24	0.006999	1	0
LAMA2	3908	broad.mit.edu	37	6	129511369	129511369	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:129511369A>T	ENST00000421865.2	+	11	1536	c.1487A>T	c.(1486-1488)gAc>gTc	p.D496V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	496	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGGAGGAGACTGTAGTCGT	0.408000													21	41					0	0	0.003330	0	0
DHCR7	1717	broad.mit.edu	37	11	71150017	71150017	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:71150017C>A	ENST00000355527.3	-	7	1015	c.739G>T	c.(739-741)Gcc>Tcc	p.A247S	DHCR7_ENST00000407721.2_Missense_Mutation_p.A247S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	247			A -> V (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A247P(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGGTCCAGGCGACGATCCCG	0.552000									Smith-Lemli-Opitz syndrome				12	64					1.08611e-07	1.2488e-07	0.010729	1	0
RABEPK	10244	broad.mit.edu	37	9	127982956	127982956	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:127982956C>T	ENST00000373538.3	+	5	813	c.503C>T	c.(502-504)aCg>aTg	p.T168M	RABEPK_ENST00000259460.8_Missense_Mutation_p.T117M|RABEPK_ENST00000394125.4_Missense_Mutation_p.T168M|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000373544.1_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	168					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GTGCAGGACACGAAGCTGCAT	0.537000													3	39					0	0	0.009096	0	0
MRS2	57380	broad.mit.edu	37	6	24403334	24403334	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:24403334G>A	ENST00000378386.3	+	1	153	c.60G>A	c.(58-60)cgG>cgA	p.R20R	MRS2_ENST00000443868.2_Silent_p.R20R|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Silent_p.R20R|MRS2_ENST00000535061.1_Silent_p.R20R|MRS2_ENST00000274747.7_Silent_p.R20R	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	20					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTCCCCGGCGGACGCTGTGTG	0.677000													36	41					0	0	0.004289	0	0
OR52B6	340980	broad.mit.edu	37	11	5602464	5602464	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:5602464C>A	ENST00000345043.2	+	1	358	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTCAGATGTTCTT	0.532000													30	51					4.43304e-23	6.89102e-23	0.006320	1	0
MECP2	4204	broad.mit.edu	37	X	153363094	153363094	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:153363094C>A	ENST00000453960.2	-	1	83	c.29G>T	c.(28-30)aGc>aTc	p.S10I	MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0			E -> Q (in RTT).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCGCTCGGCgcggc	0.771000													10	10					9.70103e-10	1.18261e-09	0.008291	1	0
IQGAP3	128239	broad.mit.edu	37	1	156498840	156498840	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:156498840C>A	ENST00000361170.2	-	35	4449	c.4439G>T	c.(4438-4440)cGg>cTg	p.R1480L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1480					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGCCTTCCGCCTGTGCCT	0.587000													53	68					7.89702e-26	1.27198e-25	0.014410	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23830212	23830212	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:23830212T>C	ENST00000264867.2	-	5	687	c.568A>G	c.(568-570)Agc>Ggc	p.S190G	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	190					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCTTTATTGCTCCATGAATTC	0.403000													30	63					0	0	0.009535	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603174	140603174	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:140603174T>A	ENST00000239449.4	+	1	97	c.97T>A	c.(97-99)Tat>Aat	p.Y33N	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		33					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGCACACTATTCTGTGGC	0.512000													22	16					0	0	0.003330	0	0
ARSG	22901	broad.mit.edu	37	17	66397555	66397555	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:66397555G>C	ENST00000448504.2	+	11	2063	c.1267G>C	c.(1267-1269)Gtc>Ctc	p.V423L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.V259L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	423					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTGCAGACTGTCCGCCTGGA	0.577000													13	88					0	0	0.013537	0	0
C2CD3	26005	broad.mit.edu	37	11	73748651	73748651	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:73748651G>A	ENST00000334126.7	-	30	5979	c.5753C>T	c.(5752-5754)gCc>gTc	p.A1918V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1918V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1918						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTGTGAGATGGCCGTTTGAGT	0.542000													51	26					0	0	0.014410	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449928	85449928	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:85449928A>G	ENST00000393217.2	+	8	1418	c.1357A>G	c.(1357-1359)Aga>Gga	p.R453G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	453										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAATGTAGATAGACAGACTAT	0.299000													28	38					0	0	0.005443	0	0
LARGE	9215	broad.mit.edu	37	22	33673221	33673221	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:33673221C>T	ENST00000354992.2	-	15	2469	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	LARGE_ENST00000337431.2_Missense_Mutation_p.G581D|LARGE_ENST00000402320.1_Missense_Mutation_p.G581D|LARGE_ENST00000397394.2_Missense_Mutation_p.G633D|LARGE_ENST00000452586.2_Missense_Mutation_p.G432D|LARGE_ENST00000437602.2_Missense_Mutation_p.G584D	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	633					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGGTGCGTGGCCTTTCGTCCA	0.572000													12	27					0	0	0.013537	0	0
LECT2	3950	broad.mit.edu	37	5	135283102	135283102	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:135283102G>T	ENST00000274507.1	-	4	574	c.374C>A	c.(373-375)cCc>cAc	p.P125H	FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_Missense_Mutation_p.P53H|LECT2_ENST00000522943.1_Intron|LECT2_ENST00000471827.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	125					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTCTGCAAGGGCAATAGAGT	0.378000													24	21					6.21321e-17	8.77577e-17	0.016522	1	0
TLN2	83660	broad.mit.edu	37	15	63029075	63029075	+	Splice_Site	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:63029075A>C	ENST00000561311.1	+	28	3588		c.e28-1		TLN2_ENST00000559908.1_Splice_Site|TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTTTCCCCCAGGGGTGGCTG	0.577000													19	38					0	0	0.012319	0	0
RBM10	8241	broad.mit.edu	37	X	47028841	47028841	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:47028841G>A	ENST00000377604.3	+	3	887	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	RBM10_ENST00000329236.7_Missense_Mutation_p.G49S|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.G49S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	49					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCGCGAGTATGGCAGCCAGGA	0.632000													12	23					0	0	0.013537	0	0
LIPF	8513	broad.mit.edu	37	10	90438201	90438201	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:90438201G>T	ENST00000394375.3	+	11	1103		c.e11-1		LIPF_ENST00000238983.4_Splice_Site|LIPF_ENST00000496797.1_Splice_Site|LIPF_ENST00000355843.2_Splice_Site	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric						lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GTGTTTTCTAGTCCCAACCTC	0.433000													58	88					4.88482e-21	7.37695e-21	0.014410	1	0
LIFR	3977	broad.mit.edu	37	5	38512038	38512038	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:38512038T>A	ENST00000263409.4	-	6	752	c.590A>T	c.(589-591)aAa>aTa	p.K197I	LIFR_ENST00000453190.2_Missense_Mutation_p.K197I|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	197					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAGTGTATCTTTGCCATTCAG	0.363000			T	PLAG1	salivary adenoma								14	66					0	0	0.002450	0	0
SHOX2	6474	broad.mit.edu	37	3	157817678	157817678	+	Missense_Mutation	SNP	C	C	A	rs147753879		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:157817678C>A	ENST00000490689.2	-	4	1819	c.286G>T	c.(286-288)Gta>Tta	p.V96L	SHOX2_ENST00000483851.2_Missense_Mutation_p.V225L|SHOX2_ENST00000441443.2_Missense_Mutation_p.V96L|SHOX2_ENST00000425436.3_Missense_Mutation_p.V225L|SHOX2_ENST00000389589.4_Missense_Mutation_p.V249L			O60902	SHOX2_HUMAN	short stature homeobox 2	225					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAAGCACCTACGTTGACATAA	0.403000													47	10					4.25531e-23	6.62401e-23	0.014410	1	0
ASPH	444	broad.mit.edu	37	8	62438643	62438643	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:62438643C>A	ENST00000541428.1	-	22	1866	c.1706G>T	c.(1705-1707)cGa>cTa	p.R569L	ASPH_ENST00000379454.4_Missense_Mutation_p.R598L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	598					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCCTTCATCTCGGATTAACTT	0.473000													30	86					1.08312e-15	1.50689e-15	0.009535	1	0
ADAM22	53616	broad.mit.edu	37	7	87563826	87563826	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:87563826G>T	ENST00000398204.4	+	1	369	c.46G>T	c.(46-48)Gtc>Ttc	p.V16F	ADAM22_ENST00000398209.3_Missense_Mutation_p.V16F|ADAM22_ENST00000439864.1_Missense_Mutation_p.V16F|ADAM22_ENST00000315984.7_Missense_Mutation_p.V16F|ADAM22_ENST00000398201.4_Missense_Mutation_p.V16F|ADAM22_ENST00000265727.7_Missense_Mutation_p.V16F	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	16					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGCTCTGTGTCCTGGGGAC	0.672000													12	6					2.27111e-07	2.58197e-07	0.013537	1	0
PDX1	3651	broad.mit.edu	37	13	28498415	28498415	+	Silent	SNP	G	G	T	rs148001995		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:28498415G>T	ENST00000381033.4	+	2	548	c.429G>T	c.(427-429)ccG>ccT	p.P143P		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	143					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CTGCGGAGCCGGAGGAGAACA	0.692000													8	16					5.18039e-06	5.67498e-06	0.003080	1	0
HIPK4	147746	broad.mit.edu	37	19	40886805	40886805	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:40886805A>T	ENST00000291823.2	-	3	1377	c.1093T>A	c.(1093-1095)Tcg>Acg	p.S365T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	365						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCGCAGCGAGAGCTGGTAG	0.662000													125	34					0	0	0.014410	0	0
TEKT1	83659	broad.mit.edu	37	17	6703471	6703471	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:6703471C>A	ENST00000338694.2	-	8	1261	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	TEKT1_ENST00000535086.1_Missense_Mutation_p.V232F	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	378					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTCTTTGACCTGGATCTCC	0.527000													119	42					5.11573e-52	9.00919e-52	0.014410	1	0
DAB1	1600	broad.mit.edu	37	1	57537954	57537954	+	Splice_Site	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:57537954A>T	ENST00000371236.2	-	5	702		c.e5+1		DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000371230.1_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGGGATACTCACCGCCTGGGC	0.502000													32	26					0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179425883	179425883	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:179425883G>C	ENST00000589042.1	-	326	85200	c.84976C>G	c.(84976-84978)Cgg>Ggg	p.R28326G	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25758G|TTN_ENST00000342175.6_Missense_Mutation_p.R19453G|TTN_ENST00000359218.5_Missense_Mutation_p.R19386G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26685G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19261G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26685	Fibronectin type-III 106.						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)			GCAAAAACCCGGAATTCATAA	0.403000													20	94					0	0	0.007413	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416846	85416846	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:85416846C>G	ENST00000295886.4	-	2	1043	c.822G>C	c.(820-822)ggG>ggC	p.G274G	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	274					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCTCTGTCATCCCCAACGAAT	0.572000													54	40					0	0	0.014410	0	0
SPRN	503542	broad.mit.edu	37	10	135237149	135237149	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:135237149G>T	ENST00000541506.1	-	2	193	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	SPRN_ENST00000414069.2_Missense_Mutation_p.L13M			Q5BIV9	SPRN_HUMAN	shadow of prion protein homolog (zebrafish)	13	Ala-rich.					anchored to membrane|plasma membrane							all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCGGCCGCCAGTAGCAGAGCC	0.711000													7	6					0.00448238	0.00459382	0.004482	1	0
CARS2	79587	broad.mit.edu	37	13	111293892	111293892	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:111293892C>T	ENST00000257347.4	-	15	1750	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T		NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	563					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTCAGCCCGCTGATTTTTGG	0.522000													57	200					0	0	0.014410	0	0
PURG	29942	broad.mit.edu	37	8	30889852	30889852	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:30889852C>A	ENST00000475541.1	-	1	1379	c.447G>T	c.(445-447)agG>agT	p.R149S	PURG_ENST00000339382.2_Missense_Mutation_p.R149S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	149						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGTGCTTCTGCCTCCTTCTGG	0.567000													43	98					8.20599e-20	1.21939e-19	0.011902	1	0
NFAM1	150372	broad.mit.edu	37	22	42793949	42793949	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:42793949C>T	ENST00000329021.5	-	4	615	c.578G>A	c.(577-579)gGt>gAt	p.G193D		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	193					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTTCCCTGGACCCCGCATCCG	0.612000													28	31					0	0	0.007291	0	0
GPSM3	63940	broad.mit.edu	37	6	32159165	32159165	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:32159165C>T	ENST00000375040.3	-	4	853	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GPSM3_ENST00000487761.1_Missense_Mutation_p.R151Q|GPSM3_ENST00000375043.3_Missense_Mutation_p.R154Q	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	154	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						TGTGGGGGGCCGGGACCTTTG	0.632000													49	166					0	0	0.014410	0	0
TGFBR3	7049	broad.mit.edu	37	1	92327037	92327037	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:92327037C>A	ENST00000212355.4	-	2	517	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A18S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A18S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	18					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTGCAGTGGCTAAACAGGAG	0.388000													19	7					1.22574e-08	1.45287e-08	0.014323	1	0
LCP1	3936	broad.mit.edu	37	13	46716494	46716494	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:46716494C>A	ENST00000398576.2	-	16	1823	c.1435G>T	c.(1435-1437)Ggt>Tgt	p.G479C	LCP1_ENST00000323076.2_Missense_Mutation_p.G479C|LCP1_ENST00000435666.2_Missense_Mutation_p.G48C			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	479	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTGTCCACCGATGCCAACC	0.443000			T	BCL6	NHL								37	35					1.04352e-10	1.3006e-10	0.003755	1	0
LAMA2	3908	broad.mit.edu	37	6	129470160	129470160	+	Missense_Mutation	SNP	G	G	T	rs141340479	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:129470160G>T	ENST00000421865.2	+	7	995	c.946G>T	c.(946-948)Gat>Tat	p.D316Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	316	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D316Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACATGTGGCGATAGCTGTGA	0.428000													34	71					6.00712e-18	8.63815e-18	0.012213	1	0
MYCBP2	23077	broad.mit.edu	37	13	77695587	77695587	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:77695587G>T	ENST00000407578.2	-	55	8327	c.8061C>A	c.(8059-8061)agC>agA	p.S2687R	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2649R|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2649R|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S112R|MYCBP2_ENST00000482517.1_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2649	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGAGAAAGGGCTTGGAGGAG	0.393000													22	39					1.64293e-13	2.19255e-13	0.003330	1	0
OR2T33	391195	broad.mit.edu	37	1	248436296	248436296	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248436296G>A	ENST00000318021.2	-	1	842	c.821C>T	c.(820-822)gCc>gTc	p.A274V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A274D(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGTATAGAAGGCTGACACAAC	0.483000													99	176					0	0	0.014410	0	0
CBLN2	147381	broad.mit.edu	37	18	70209133	70209133	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:70209133G>A	ENST00000269503.4	-	3	1036	c.263C>T	c.(262-264)tCc>tTc	p.S88F	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.S88F	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	88	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGCGCTGCCGGAGCGCACGGA	0.672000													22	13					0	0	0.012319	0	0
MALAT1	378938	broad.mit.edu	37	11	65273691	65273691	+	RNA	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:65273691C>A	ENST00000534336.1	+	0	8459					NR_002819.2																						CTGTATTTCTCCTTTTCTCTG	0.458000													10	54					7.48243e-07	8.42057e-07	0.006214	1	0
CCL4	6351	broad.mit.edu	37	17	34431942	34431942	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:34431942C>T	ENST00000250151.4	+	2	414	c.98C>T	c.(97-99)gCc>gTc	p.A33V	CCL4_ENST00000394495.1_Intron	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	33					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCCCACCGCCTGCTGCTTT	0.502000													10	35					0	0	0.008291	0	0
IQSEC3	440073	broad.mit.edu	37	12	176593	176593	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:176593G>T	ENST00000538872.1	+	1	663	c.545G>T	c.(544-546)aGg>aTg	p.R182M	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R182M			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	182					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTCCTGAGCAGGAGACCTGAG	0.642000													8	57					1.76689e-08	2.08321e-08	0.006214	1	0
ASF1B	55723	broad.mit.edu	37	19	14236936	14236936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:14236936G>A	ENST00000263382.3	-	2	722	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	ASF1B_ENST00000474890.1_Nonsense_Mutation_p.Q75*|ASF1B_ENST00000592798.1_Nonsense_Mutation_p.Q75*	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	75	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TTTCTTACCTGAAAGACAAAC	0.473000													13	42					0	0	0.001855	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034493	49034493	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:49034493G>T	ENST00000376317.3	-	7	898	c.804C>A	c.(802-804)ggC>ggA	p.G268G	PRICKLE3_ENST00000540849.1_Silent_p.G200G|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Silent_p.G187G	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	268	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GCCAGTGGCGGCCCTCAGCCT	0.622000													7	23					8.12818e-05	8.64056e-05	0.001984	1	0
TRPM1	4308	broad.mit.edu	37	15	31358306	31358306	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:31358306G>A	ENST00000542188.1	-	6	1127	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	TRPM1_ENST00000397795.2_Missense_Mutation_p.H233Y|TRPM1_ENST00000256552.6_Missense_Mutation_p.H255Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	233					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGGAGATGTGCTTTTCCAGC	0.552000													65	88					0	0	0.014410	0	0
CDH12	1010	broad.mit.edu	37	5	21752253	21752253	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:21752253A>T	ENST00000382254.1	-	15	3064	c.1978T>A	c.(1978-1980)Tac>Aac	p.Y660N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.Y620N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.Y660N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	660					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						TCATCATCGTAATGGATGACG	0.463000										HNSCC(59;0.17)			35	142					0	0	0.015359	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139292	72139292	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:72139292G>T	ENST00000555818.1	+	9	3405	c.3057G>T	c.(3055-3057)acG>acT	p.T1019T	SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000358550.2_Silent_p.T1019T|SIPA1L1_ENST00000537413.1_Silent_p.T494T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1019	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592000													12	27					0.000151284	0.000160057	0.001855	1	0
KRT20	54474	broad.mit.edu	37	17	39041261	39041261	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:39041261G>T	ENST00000167588.3	-	1	218	c.177C>A	c.(175-177)ctC>ctA	p.L59L		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	59	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CGCCGCCTGTGAGATCGCTCC	0.592000													57	57					3.37043e-27	5.46835e-27	0.014410	1	0
PUS7L	83448	broad.mit.edu	37	12	44148448	44148448	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:44148448G>A	ENST00000416848.2	-	2	1089	c.601C>T	c.(601-603)Ctt>Ttt	p.L201F	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.L201F|PUS7L_ENST00000551923.1_Missense_Mutation_p.L201F|PUS7L_ENST00000344862.5_Missense_Mutation_p.L201F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	201					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTATATTCAAGATTTGGTTTT	0.303000													27	30					0	0	0.003954	0	0
FAM124A	220108	broad.mit.edu	37	13	51855120	51855120	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:51855120C>T	ENST00000322475.8	+	4	1504	c.1369C>T	c.(1369-1371)Cac>Tac	p.H457Y	FAM124A_ENST00000280057.6_Missense_Mutation_p.H493Y	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	457										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CTGGGCAGCTCACAAGGATTC	0.592000													13	46					0	0	0.013537	0	0
ZNF503	84858	broad.mit.edu	37	10	77159440	77159440	+	Silent	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:77159440C>G	ENST00000372524.4	-	2	1494	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.L336L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CGGGAGCCACCAGCCCAGAGC	0.711000													11	11					0	0	0.010729	0	0
CDH22	64405	broad.mit.edu	37	20	44856239	44856239	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:44856239G>A	ENST00000372262.3	-	3	978	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CDH22_ENST00000537909.1_Missense_Mutation_p.S193L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	193	Cadherin 2.				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)				ATCCGCATCCGAGGCCATCAC	0.687000													6	16					0	0	0.001168	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486792	117486792	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:117486792G>T	ENST00000355044.3	+	27	3956	c.3830G>T	c.(3829-3831)cGt>cTt	p.R1277L	ATRNL1_ENST00000303745.7_Missense_Mutation_p.R70L|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R328L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1277						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGGCCAGCCGTCCCTTTGCT	0.453000													10	27					2.27111e-07	2.58197e-07	0.013537	1	0
CEP164	22897	broad.mit.edu	37	11	117246440	117246440	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:117246440G>A	ENST00000278935.3	+	11	1397	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	417					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGTTTTCGCAGCCGGATCTCG	0.582000													79	60					0	0	0.014410	0	0
DPYSL3	1809	broad.mit.edu	37	5	146781122	146781122	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:146781122T>A	ENST00000343218.5	-	9	1488	c.1291A>T	c.(1291-1293)Atc>Ttc	p.I431F	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.I317F	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	317					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGTTGATGTAGTCCGGA	0.562000													13	10					0	0	0.003163	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602206	58602206	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:58602206C>T	ENST00000287275.1	-	6	971	c.581G>A	c.(580-582)cGc>cAc	p.R194H	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.R194H	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	194						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTGGAGGCAGCGTTCAATATA	0.448000													6	37					0	0	0.001984	0	0
TDRD1	56165	broad.mit.edu	37	10	115950746	115950746	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:115950746G>A	ENST00000251864.2	+	3	505	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TDRD1_ENST00000369281.2_Missense_Mutation_p.E118K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.E118K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E118K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	118					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACCAAGTGCTGAAAGTAATTC	0.294000													20	26					0	0	0.008871	0	0
NES	10763	broad.mit.edu	37	1	156640382	156640382	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:156640382G>A	ENST00000368223.3	-	4	3730	c.3598C>T	c.(3598-3600)Cct>Tct	p.P1200S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1200	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGGTGAAGGGGCATCACTT	0.652000													69	67					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52359673	52359673	+	Silent	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:52359673A>G	ENST00000356297.4	-	12	1516	c.1416T>C	c.(1414-1416)acT>acC	p.T472T	PXDNL_ENST00000543296.1_Silent_p.T472T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	472	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAATTCTCAAAGTGCCAGAGG	0.498000													20	149					0	0	0.008871	0	0
KCTD19	146212	broad.mit.edu	37	16	67337219	67337219	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:67337219A>C	ENST00000304372.5	-	4	528	c.473T>G	c.(472-474)cTg>cGg	p.L158R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	158						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CATGAGCCCCAGAGGTGCCTT	0.552000													20	32					0	0	0.008871	0	0
TBCD	6904	broad.mit.edu	37	17	80726366	80726366	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:80726366G>T	ENST00000355528.4	+	5	636	c.506G>T	c.(505-507)cGc>cTc	p.R169L	TBCD_ENST00000539345.2_Missense_Mutation_p.R169L|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	169					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GATTTTTCTCGCCTTGACGGG	0.473000													115	151					5.70617e-39	9.86176e-39	0.014410	1	0
RETSAT	54884	broad.mit.edu	37	2	85570768	85570768	+	Silent	SNP	G	G	A	rs10558032		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:85570768G>A	ENST00000295802.4	-	10	1799	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	RETSAT_ENST00000457495.2_Silent_p.L502L|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	563					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATACCTGTCAGATAGAGGTTG	0.647000													10	31					0	0	0.008291	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586645	15586645	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:15586645C>T	ENST00000292609.4	-	2	965	c.836G>A	c.(835-837)gGg>gAg	p.G279E	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G279E			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	279					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AAGGATGACCCCATCCAGGGC	0.622000													24	22					0	0	0.004656	0	0
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGAGGAATTCTTCCGTCAGG	0.577000													80	106					0	0	0.014410	0	0
CACNA1B	774	broad.mit.edu	37	9	140970323	140970323	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:140970323A>G	ENST00000277549.5	+	35	5061	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	CACNA1B_ENST00000371365.2_Missense_Mutation_p.N1S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N1638S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N1635S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.N1637S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N1636S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N1637S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1637					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGCCACAACAACTTCCGGACG	0.557000													11	7					0	0	0.013537	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821159	5821159	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:5821159G>T	ENST00000381095.3	-	5	2187	c.1560C>A	c.(1558-1560)agC>agA	p.S520R	NLGN4X_ENST00000275857.6_Missense_Mutation_p.S520R|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S540R|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S520R|NLGN4X_ENST00000381092.1_Missense_Mutation_p.S520R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	520					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.S520R(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGACCACGGCGCTGAGCATGA	0.522000													17	45					2.35188e-11	2.99845e-11	0.006122	1	0
NAPB	63908	broad.mit.edu	37	20	23361951	23361951	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:23361951C>A	ENST00000377026.4	-	8	650	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	NAPB_ENST00000432543.2_Missense_Mutation_p.G150W|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.G95W	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	189					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					GTGTTTGCCCCAACCTAGGCA	0.378000													25	63					5.35356e-11	6.72518e-11	0.016522	1	0
MS4A6A	64231	broad.mit.edu	37	11	59947358	59947358	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:59947358G>C	ENST00000528851.1	-	3	368	c.228C>G	c.(226-228)acC>acG	p.T76T	MS4A6A_ENST00000412309.2_Silent_p.T104T|MS4A6A_ENST00000532169.1_Silent_p.T76T|MS4A6A_ENST00000529054.1_Silent_p.T104T|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000420732.2_Silent_p.T76T|MS4A6A_ENST00000530839.1_Silent_p.T76T|MS4A6A_ENST00000323961.3_Silent_p.T76T|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000426738.2_Intron			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	76						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468000													12	32					0	0	0.010729	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277677	140277677	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:140277677C>A	ENST00000458420.3	+	12	2209	c.2019C>A	c.(2017-2019)gcC>gcA	p.A673A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	673					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAACCGAAGCCCCCGGGGACG	0.502000										HNSCC(16;0.037)			6	19					0.00116845	0.00120975	0.001168	1	0
MMRN1	22915	broad.mit.edu	37	4	90816330	90816330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:90816330G>T	ENST00000394980.1	+	2	527	c.208G>T	c.(208-210)Gag>Tag	p.E70*	MMRN1_ENST00000264790.2_Nonsense_Mutation_p.E70*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.E70*			Q13201	MMRN1_HUMAN	multimerin 1	70					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TACAACTCCAGAGGCAAGAAC	0.458000													23	24					1.96895e-08	2.31653e-08	0.016522	1	0
YY2	404281	broad.mit.edu	37	X	21875379	21875379	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:21875379C>G	ENST00000429584.2	+	1	1275	c.777C>G	c.(775-777)agC>agG	p.S259R	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	259	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCTCTTATAGCGGCTGCGAAA	0.488000													63	163					0	0	0.014410	0	0
FANCM	57697	broad.mit.edu	37	14	45645485	45645485	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:45645485C>T	ENST00000267430.5	+	14	3613	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F	FANCM_ENST00000542564.2_Silent_p.F1150F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1176					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTCTCAGTTCTTAATTTCTG	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				21	29					0	0	0.008871	0	0
OR4D5	219875	broad.mit.edu	37	11	123811173	123811173	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:123811173C>A	ENST00000307033.2	+	1	924	c.850C>A	c.(850-852)Cct>Act	p.P284T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		CATGCTGAATCCTGCCATCTA	0.502000													63	39					4.13886e-29	6.78432e-29	0.014410	1	0
PNPLA6	10908	broad.mit.edu	37	19	7619583	7619583	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:7619583G>T	ENST00000221249.6	+	24	2925	c.2494G>T	c.(2494-2496)Ggg>Tgg	p.G832W	PNPLA6_ENST00000545201.2_Missense_Mutation_p.G805W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.G832W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.G880W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.G870W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	871					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTGGGCCTGGGGGACCAGGA	0.682000													40	19					9.45814e-24	1.49106e-23	0.004878	1	0
GUCA1B	2979	broad.mit.edu	37	6	42152572	42152572	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:42152572C>A	ENST00000230361.3	-	4	679	c.584G>T	c.(583-585)cGg>cTg	p.R195L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	195					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GGCACTTTTCCGTCTCTGCTG	0.582000													135	59					3.36649e-63	6.03366e-63	0.014410	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181701	128181701	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:128181701G>T	ENST00000469083.1	-	2	2945	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	DNAJB8_ENST00000319153.3_Missense_Mutation_p.L130M			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	130					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GCCCCCCTCAGGCCATGGCCC	0.597000													36	23					9.8876e-21	1.48314e-20	0.004878	1	0
FAM26E	254228	broad.mit.edu	37	6	116832923	116832923	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:116832923T>G	ENST00000368599.3	+	1	115	c.64T>G	c.(64-66)Ttc>Gtc	p.F22V	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	22						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGGCTACAGCTTCATGGCTCT	0.453000													11	132					0	0	0.008291	0	0
PCDH17	27253	broad.mit.edu	37	13	58207527	58207527	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:58207527A>T	ENST00000377918.3	+	1	873	c.847A>T	c.(847-849)Agc>Tgc	p.S283C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	283	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACTCTTTCAGCAGCTACGT	0.582000													22	69					0	0	0.010504	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893903	32893903	+	RNA	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:32893903A>T	ENST00000330048.5	-	0	1354					NR_003083.2																						GTCACAAGTGAGGTTGGCCAG	0.627000													39	138					0	0	0.014410	0	0
REG1P	5969	broad.mit.edu	37	2	79363105	79363105	+	RNA	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:79363105A>G	ENST00000444841.1	-	0	1233																											GCTTGAAGTCAGGCTAGCACA	0.512000													6	15					0	0	0.001168	0	0
DRD1	1812	broad.mit.edu	37	5	174869204	174869204	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:174869204G>A	ENST00000393752.2	-	2	1891	c.899C>T	c.(898-900)tCt>tTt	p.S300F		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	300					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CGTCTCCCCAGACCCACAGAA	0.473000													34	21					0	0	0.012213	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510243	171510243	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:171510243G>T	ENST00000367742.3	+	16	3880	c.3638G>T	c.(3637-3639)gGt>gTt	p.G1213V	PRRC2C_ENST00000426496.2_Missense_Mutation_p.G1211V|PRRC2C_ENST00000338920.4_Missense_Mutation_p.G1211V|PRRC2C_ENST00000392078.3_Missense_Mutation_p.G1213V			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1211							protein C-terminus binding										GGCAGGGGTGGTAGGGGACAC	0.498000													20	82					7.41877e-09	8.80368e-09	0.012319	1	0
CNNM2	54805	broad.mit.edu	37	10	104678932	104678932	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:104678932C>G	ENST00000369878.3	+	1	819	c.695C>G	c.(694-696)aCc>aGc	p.T232S	CNNM2_ENST00000369875.3_Missense_Mutation_p.T232S|CNNM2_ENST00000457502.2_5'UTR|CNNM2_ENST00000433628.2_Missense_Mutation_p.T232S	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	232					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCGAGACCACCTGGATTTAC	0.692000													10	17					0	0	0.006214	0	0
COL25A1	84570	broad.mit.edu	37	4	109810880	109810880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:109810880C>A	ENST00000399132.1	-	17	1446	c.916G>T	c.(916-918)Gga>Tga	p.G306*	COL25A1_ENST00000399126.1_Nonsense_Mutation_p.G306*|COL25A1_ENST00000399127.1_Nonsense_Mutation_p.G302*	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	306	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCAGATGATCCAGGGTCACCC	0.428000													18	14					5.35267e-07	6.05439e-07	0.007413	1	0
STARD13	90627	broad.mit.edu	37	13	33680966	33680966	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:33680966G>T	ENST00000336934.5	-	13	3269	c.3153C>A	c.(3151-3153)gaC>gaA	p.D1051E	STARD13_ENST00000255486.4_Missense_Mutation_p.D1043E|STARD13_ENST00000399365.3_Missense_Mutation_p.D933E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	1051	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGTACTGCGAGTCCATCACCA	0.537000													11	116					1.08611e-07	1.2488e-07	0.010729	1	0
ZNF689	115509	broad.mit.edu	37	16	30621283	30621283	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:30621283C>A	ENST00000287461.3	-	1	417	c.80G>T	c.(79-81)aGg>aTg	p.R27M	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CTTCAGAGCCCTCGGCCTCCT	0.706000													5	12					5.9392e-07	6.71099e-07	0.001168	1	0
CCDC13	152206	broad.mit.edu	37	3	42754689	42754689	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:42754689G>A	ENST00000310232.6	-	14	1921	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	613										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGGGAGGCTGATGCCTTCCC	0.612000													26	64					0	0	0.005443	0	0
CREBBP	1387	broad.mit.edu	37	16	3778942	3778942	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3778942G>C	ENST00000262367.5	-	31	6915	c.6106C>G	c.(6106-6108)Ccc>Gcc	p.P2036A	CREBBP_ENST00000382070.3_Missense_Mutation_p.P1998A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2036					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGGCCTGGGCAAGCCTGGC	0.711000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	10					0	0	0.001984	0	0
ZFAT	57623	broad.mit.edu	37	8	135614721	135614721	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:135614721T>C	ENST00000520727.1	-	7	1504	c.1205A>G	c.(1204-1206)aAg>aGg	p.K402R	ZFAT_ENST00000520356.1_Missense_Mutation_p.K402R|ZFAT_ENST00000520214.1_Missense_Mutation_p.K402R|ZFAT_ENST00000429442.2_Missense_Mutation_p.K402R|ZFAT_ENST00000523399.1_Missense_Mutation_p.K352R|ZFAT_ENST00000377838.3_Missense_Mutation_p.K414R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGCTCGTTCTTGAACTTGCG	0.592000													39	43					0	0	0.006230	0	0
ARVCF	421	broad.mit.edu	37	22	19968925	19968925	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:19968925G>C	ENST00000263207.3	-	5	996	c.705C>G	c.(703-705)gcC>gcG	p.A235A	ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Silent_p.A172A|ARVCF_ENST00000344269.3_Silent_p.A172A|ARVCF_ENST00000406259.1_Silent_p.A235A|ARVCF_ENST00000401994.1_Silent_p.A172A	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	235					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCACCGGGAAGGCTTCCCGGT	0.716000													6	8					0	0	0.001984	0	0
TMEM56	148534	broad.mit.edu	37	1	95614331	95614331	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:95614331A>G	ENST00000370203.4	+	3	520	c.229A>G	c.(229-231)Aaa>Gaa	p.K77E	TMEM56_ENST00000463375.1_3'UTR|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K77E	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	77	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TGAGGCTACTAAAGCTGATCC	0.313000													36	26					0	0	0.004878	0	0
NUP153	9972	broad.mit.edu	37	6	17633037	17633037	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:17633037C>G	ENST00000262077.2	-	17	2502	c.2503G>C	c.(2503-2505)Gtc>Ctc	p.V835L	NUP153_ENST00000537253.1_Missense_Mutation_p.V866L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	835					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAGAGAGACAGGTACAGTG	0.433000													35	45					0	0	0.013726	0	0
HOOK1	51361	broad.mit.edu	37	1	60324670	60324670	+	Silent	SNP	A	A	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:60324670A>C	ENST00000371208.3	+	14	1601	c.1344A>C	c.(1342-1344)acA>acC	p.T448T	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.T406T	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	448	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CATCTGCTACAAAAAGTTATG	0.289000													6	11					0	0	0.001168	0	0
MTX2	10651	broad.mit.edu	37	2	177191571	177191571	+	Missense_Mutation	SNP	A	A	C	rs149112990	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:177191571A>C	ENST00000392529.2	+	6	602	c.197A>C	c.(196-198)cAt>cCt	p.H66P	MTX2_ENST00000443241.1_Missense_Mutation_p.H20P|MTX2_ENST00000249442.6_Missense_Mutation_p.H76P			O75431	MTX2_HUMAN	metaxin 2	76					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CCTTTTATTCATGTGGGAAAT	0.264000													35	34					0	0	0.006999	0	0
NUGGC	389643	broad.mit.edu	37	8	27927068	27927068	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:27927068A>T	ENST00000413272.2	-	4	392	c.250T>A	c.(250-252)Tat>Aat	p.Y84N	NUGGC_ENST00000341513.6_Missense_Mutation_p.Y84N	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CACATGAGATACTTGACTCCA	0.413000													18	44					0	0	0.006122	0	0
FGF6	2251	broad.mit.edu	37	12	4554576	4554576	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:4554576C>A	ENST00000228837.2	-	1	204	c.161G>T	c.(160-162)tGg>tTg	p.W54L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	54					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CAGGGTGCCCCAGCCCCTCGA	0.652000													61	117					7.59065e-32	1.26662e-31	0.014410	1	0
GTF3C1	2975	broad.mit.edu	37	16	27549551	27549551	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:27549551C>A	ENST00000356183.4	-	3	573	c.558G>T	c.(556-558)cgG>cgT	p.R186R	GTF3C1_ENST00000561623.1_Silent_p.R186R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	186						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCACCTGGACCGGCCTAGCC	0.577000													30	78					7.26314e-15	9.95551e-15	0.007291	1	0
CXorf61	203413	broad.mit.edu	37	X	115593006	115593006	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:115593006C>T	ENST00000371894.4	-	2	390	c.244G>A	c.(244-246)Gta>Ata	p.V82I		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	82						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						CTGAGGTTTACCAATATTCGC	0.418000													35	34					0	0	0.004289	0	0
MIXL1	83881	broad.mit.edu	37	1	226413217	226413217	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:226413217C>A	ENST00000366810.5	+	2	467	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Missense_Mutation_p.Q143K			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	135					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTATGGTTCCAGAACAGGCG	0.458000													24	53					7.4402e-23	1.15173e-22	0.003954	1	0
OR5D16	390144	broad.mit.edu	37	11	55607106	55607106	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:55607106T>A	ENST00000378396.1	+	1	879	c.879T>A	c.(877-879)agT>agA	p.S293R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATCTACAGTCTGAGAAATA	0.368000													20	45					0	0	0.012319	0	0
ZNF774	342132	broad.mit.edu	37	15	90903471	90903471	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:90903471G>A	ENST00000354377.3	+	4	594	c.408G>A	c.(406-408)gaG>gaA	p.E136E	ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCACAGGAGAGGGATTTAA	0.483000													31	47					0	0	0.009535	0	0
MTTP	4547	broad.mit.edu	37	4	100518330	100518330	+	Missense_Mutation	SNP	C	C	T	rs137956833		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:100518330C>T	ENST00000457717.1	+	9	1272	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.A366V|MTTP_ENST00000265517.5_Missense_Mutation_p.A339V	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	339	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTCAGGACTGCGAAGAAAGAA	0.473000													16	76					0	0	0.007413	0	0
ACOX2	8309	broad.mit.edu	37	3	58494711	58494711	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:58494711T>C	ENST00000302819.5	-	14	2183	c.1892A>G	c.(1891-1893)gAt>gGt	p.D631G	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.D617G	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	631					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TAAACACTGATCGGTGAAGTC	0.418000													9	51					0	0	0.006214	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071853	17071853	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:17071853G>T	ENST00000359963.3	-	1	1847	c.1588C>A	c.(1588-1590)Cag>Aag	p.Q530K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	530					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGATCTCCTGATGTGTGGGA	0.443000													40	103					9.85913e-13	1.30323e-12	0.009718	1	0
FMN2	56776	broad.mit.edu	37	1	240371697	240371697	+	Silent	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:240371697A>T	ENST00000319653.9	+	5	3815	c.3585A>T	c.(3583-3585)atA>atT	p.I1195I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1195	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGTGGGAATACCTCCTCCGC	0.667000													7	24					0	0	0.004482	0	0
NCOR2	9612	broad.mit.edu	37	12	124811959	124811959	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:124811959C>A	ENST00000356219.3	-	46	7355	c.7200G>T	c.(7198-7200)tcG>tcT	p.S2400S	NCOR2_ENST00000429285.2_Silent_p.S2383S|NCOR2_ENST00000405201.1_Silent_p.S2393S|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Silent_p.S1954S|NCOR2_ENST00000397355.1_Intron	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2404					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)		GCAGACCTGGCGAGGTGAGTG	0.652000													14	40					6.72482e-11	8.40037e-11	0.003163	1	0
RAB8B	51762	broad.mit.edu	37	15	63547784	63547784	+	Splice_Site	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:63547784G>A	ENST00000321437.4	+	4	480		c.e4+1		RAB8B_ENST00000448330.2_Splice_Site	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						CATTGAAGAGGTATGTGTGGA	0.418000													17	26					0	0	0.007413	0	0
GPR123	84435	broad.mit.edu	37	10	134906624	134906624	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:134906624G>C	ENST00000607359.1	+	10	1895	c.1895G>C	c.(1894-1896)aGg>aCg	p.R632T	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCACTGTGCAGGAAAGAAGGT	0.612000													11	10					0	0	0.013537	0	0
ZZEF1	23140	broad.mit.edu	37	17	3992155	3992155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:3992155C>A	ENST00000381638.2	-	13	2182	c.2058G>T	c.(2056-2058)caG>caT	p.Q686H	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	686							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCTGACTCCTGACGGGTGC	0.498000													34	17					1.66425e-11	2.12909e-11	0.004878	1	0
ATG7	10533	broad.mit.edu	37	3	11389429	11389429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:11389429G>T	ENST00000354449.3	+	12	1229	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ATG7_ENST00000354956.5_Nonsense_Mutation_p.E402*|ATG7_ENST00000446450.2_Nonsense_Mutation_p.E363*	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	402					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GCCTCTCTATGAGTTTGAAGA	0.522000													24	103					7.07758e-08	8.20557e-08	0.004656	1	0
TSKS	60385	broad.mit.edu	37	19	50249935	50249935	+	Missense_Mutation	SNP	G	G	C	rs59626794		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:50249935G>C	ENST00000246801.3	-	6	866	c.784C>G	c.(784-786)Cag>Gag	p.Q262E	TSKS_ENST00000358830.3_Missense_Mutation_p.Q62E	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	262							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tccggcttctgcttctcctcc	0.726000													19	6					0	0	0.007413	0	0
ZNF708	7562	broad.mit.edu	37	19	21477067	21477067	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:21477067T>A	ENST00000356929.3	-	4	898	c.701A>T	c.(700-702)aAc>aTc	p.N234I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGAGGACTGGTTAAAAGCTTT	0.363000													13	14					0	0	0.001855	0	0
TKTL1	8277	broad.mit.edu	37	X	153549129	153549129	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:153549129C>T	ENST00000369915.3	+	8	1244	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	TKTL1_ENST00000369912.2_Missense_Mutation_p.S296F|TKTL1_ENST00000217905.7_Missense_Mutation_p.S92F	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	352					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					GGCTGTGCCTCCCGTGGACGG	0.572000													41	54					0	0	0.006230	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324289	136324289	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:136324289G>T	ENST00000394945.1	-	8	919	c.750C>A	c.(748-750)ggC>ggA	p.G250G	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.G250G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	250					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAACATCCAGCCCAGGGAGT	0.512000													38	19					1.04594e-18	1.52373e-18	0.006230	1	0
GALNT14	79623	broad.mit.edu	37	2	31133917	31133917	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:31133917G>C	ENST00000349752.5	-	15	2148	c.1509C>G	c.(1507-1509)acC>acG	p.T503T	GALNT14_ENST00000420311.2_Silent_p.T468T|GALNT14_ENST00000356174.3_Silent_p.T470T|GALNT14_ENST00000324589.5_Silent_p.T508T|GALNT14_ENST00000406653.1_Silent_p.T483T|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	503	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AACCAGTTTTGGTCCATTGCT	0.488000													26	45					0	0	0.006320	0	0
LRP2	4036	broad.mit.edu	37	2	170019084	170019084	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:170019084T>A	ENST00000263816.3	-	63	12070	c.11785A>T	c.(11785-11787)Aca>Tca	p.T3929S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3929	LDL-receptor class A 36.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATATTCTGTACAAGGTTTA	0.398000													49	47					0	0	0.014410	0	0
MMP19	4327	broad.mit.edu	37	12	56234593	56234593	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:56234593C>A	ENST00000322569.4	-	4	469	c.378G>T	c.(376-378)cgG>cgT	p.R126R	MMP19_ENST00000409200.3_Silent_p.R126R|MMP19_ENST00000548629.1_Silent_p.R103R	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	126					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GCAGGGCTGCCCGGGCTGTGT	0.582000													65	101					5.10652e-33	8.58544e-33	0.014410	1	0
PCDH10	57575	broad.mit.edu	37	4	134072031	134072031	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:134072031A>G	ENST00000264360.4	+	1	1562	c.736A>G	c.(736-738)Aat>Gat	p.N246D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	246	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		CTCCAATGACAATGTGCCCGC	0.652000													50	32					0	0	0.014410	0	0
HSPA4L	22824	broad.mit.edu	37	4	128722948	128722948	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:128722948G>T	ENST00000296464.3	+	6	949	c.538G>T	c.(538-540)Gcg>Tcg	p.A180S	HSPA4L_ENST00000508776.1_Missense_Mutation_p.A180S|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A154S|HSPA4L_ENST00000439123.2_Missense_Mutation_p.A211S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	180					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGTTGCACTGGCGTATGGAAT	0.338000													15	18					6.72482e-11	8.40037e-11	0.003163	1	0
DNAH8	1769	broad.mit.edu	37	6	38746233	38746233	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:38746233C>T	ENST00000359357.3	+	12	1635	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L678F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L461F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCAGCTACTTCAAAGGTA	0.294000													7	45					0	0	0.001984	0	0
COL11A1	1301	broad.mit.edu	37	1	103544278	103544278	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:103544278G>C	ENST00000358392.2	-	3	741	c.424C>G	c.(424-426)Cac>Gac	p.H142D	COL11A1_ENST00000370096.3_Missense_Mutation_p.H142D|COL11A1_ENST00000353414.4_Missense_Mutation_p.H142D|COL11A1_ENST00000512756.1_Missense_Mutation_p.H142D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	142	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCCAGTGTGGTCTTCAAAC	0.388000													30	22					0	0	0.012213	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	34					0	0	0.004672	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381777	162381777	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:162381777C>T	ENST00000367929.2	-	1	139	c.30G>A	c.(28-30)ctG>ctA	p.L10L	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.L10L	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	10	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGCTTGGTCAGACGTCCAT	0.527000													20	67					0	0	0.010504	0	0
KRT82	3888	broad.mit.edu	37	12	52794403	52794403	+	Missense_Mutation	SNP	C	C	A	rs144000317		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:52794403C>A	ENST00000257974.2	-	4	762	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	229	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCTGTGTCCACGTCCTGCAGC	0.607000													45	76					3.54909e-21	5.36703e-21	0.011902	1	0
OR1K1	392392	broad.mit.edu	37	9	125563280	125563280	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:125563280C>T	ENST00000277309.2	+	1	911	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCTACAGCCTCTGGAATCGCG	0.602000													29	55					0	0	0.007291	0	0
HIPK4	147746	broad.mit.edu	37	19	40886804	40886804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:40886804G>T	ENST00000291823.2	-	3	1378	c.1094C>A	c.(1093-1095)tCg>tAg	p.S365*		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	365						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCTGCGCAGCGAGAGCTGGTA	0.662000													128	34					8.79323e-37	1.51032e-36	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141747101	141747101	+	Splice_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:141747101C>A	ENST00000389484.3	-	17	3741	c.2770_splice	c.e17+1	p.A924_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	924					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACCTTTACCTGTGCAAGTT	0.393000										TSP Lung(27;0.18)			12	34					0.00010058	0.000106615	0.013537	1	0
VWCE	220001	broad.mit.edu	37	11	61044097	61044097	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:61044097G>A	ENST00000335613.5	-	11	1849	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	488	VWFC 2.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGTCTGTGGGGGGGTCTGACA	0.502000													8	15					0	0	0.004482	0	0
GLRA2	2742	broad.mit.edu	37	X	14550453	14550453	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:14550453G>T	ENST00000218075.4	+	2	691	c.161G>T	c.(160-162)aGg>aTg	p.R54M	GLRA2_ENST00000355020.4_Missense_Mutation_p.R54M|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	54					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTAATGGGAAGGACATCAGGA	0.403000													17	45					1.02788e-11	1.32719e-11	0.004990	1	0
NAV3	89795	broad.mit.edu	37	12	78400886	78400886	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:78400886C>T	ENST00000397909.2	+	8	1741	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	NAV3_ENST00000228327.6_Missense_Mutation_p.S523F|NAV3_ENST00000266692.7_Missense_Mutation_p.S523F|NAV3_ENST00000536525.2_Missense_Mutation_p.S523F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	523						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						TTAATTCCGTCTTCCAGTGGT	0.453000										HNSCC(70;0.22)			20	59					0	0	0.008871	0	0
FSCB	84075	broad.mit.edu	37	14	44974624	44974624	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:44974624C>A	ENST00000340446.4	-	1	1858	c.1567G>T	c.(1567-1569)Gct>Tct	p.A523S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	523	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAATTTCAGCAGAGGCCTCT	0.507000													11	29					4.68919e-08	5.48221e-08	0.008291	1	0
FECH	2235	broad.mit.edu	37	18	55240516	55240516	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:55240516G>A	ENST00000262093.5	-	3	427	c.276C>T	c.(274-276)ctC>ctT	p.L92L	FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Silent_p.L98L	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	92					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGTCCAAGAAGAGTCTCAGAA	0.383000													13	41					0	0	0.001855	0	0
TTC18	118491	broad.mit.edu	37	10	75114533	75114533	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:75114533C>G	ENST00000401621.2	-	2	142	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	TTC18_ENST00000394865.1_Missense_Mutation_p.G8R|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Missense_Mutation_p.G8R|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.G8R			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	8							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACGAGTCTGCCTGCTGATGGC	0.443000													5	14					0	0	0.014758	0	0
LARS	51520	broad.mit.edu	37	5	145502103	145502103	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:145502103G>C	ENST00000394434.2	-	30	3310	c.3144C>G	c.(3142-3144)atC>atG	p.I1048M	LARS_ENST00000510191.1_Missense_Mutation_p.I994M|LARS_ENST00000545646.1_Missense_Mutation_p.I1002M|LARS_ENST00000274562.9_Missense_Mutation_p.I1021M	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1048					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGTCTTCCCTGATTTTATCTT	0.363000													12	27					0	0	0.013537	0	0
SMAD1	4086	broad.mit.edu	37	4	146463769	146463769	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:146463769G>C	ENST00000515385.1	+	4	1236	c.694G>C	c.(694-696)Gac>Cac	p.D232H	SMAD1_ENST00000394092.2_Missense_Mutation_p.D232H|SMAD1_ENST00000302085.4_Missense_Mutation_p.D232H			Q15797	SMAD1_HUMAN	SMAD family member 1	232					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GCCTCCTGAAGACCCCATGAC	0.473000													14	57					0	0	0.003163	0	0
OR2T12	127064	broad.mit.edu	37	1	248458341	248458341	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248458341G>T	ENST00000317996.1	-	1	539	c.540C>A	c.(538-540)ccC>ccA	p.P180P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P180P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCACCAACACGGGGGCCTCGC	0.562000													54	100					1.54043e-34	2.60959e-34	0.014410	1	0
RETSAT	54884	broad.mit.edu	37	2	85578966	85578966	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:85578966C>A	ENST00000295802.4	-	2	304	c.192G>T	c.(190-192)gtG>gtT	p.V64V	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Silent_p.V64V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	64					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCTTCTCCGGCACTTGGTTGG	0.537000													25	53					9.04412e-07	1.01167e-06	0.004656	1	0
LGALS9C	654346	broad.mit.edu	37	17	18387216	18387216	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:18387216G>T	ENST00000328114.6	+	2	148	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	LGALS9C_ENST00000581545.1_Missense_Mutation_p.G23W|LGALS9C_ENST00000583322.1_Missense_Mutation_p.G23W|LGALS9C_ENST00000584941.1_Missense_Mutation_p.G23W|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	23	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GACTATCCAAGGGGGTCTCCA	0.582000													27	56					2.42023e-17	3.43149e-17	0.015359	1	0
NEBL	10529	broad.mit.edu	37	10	21147230	21147230	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:21147230G>A	ENST00000377122.4	-	9	1238	c.842C>T	c.(841-843)tCa>tTa	p.S281L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	281					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGGAGATCTGAAACTGGATC	0.383000													5	16					0	0	0.014758	0	0
SHPK	23729	broad.mit.edu	37	17	3539418	3539418	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:3539418G>A	ENST00000225519.3	-	1	198	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	32					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCAGCACTGCGAACCCGGATG	0.726000													34	4					0	0	0.010818	0	0
TINAG	27283	broad.mit.edu	37	6	54254685	54254685	+	Missense_Mutation	SNP	G	G	A	rs149769115	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:54254685G>A	ENST00000259782.4	+	11	1489	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	465					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTTGATTATCGCAGCTTGGGG	0.418000													53	51					0	0	0.014410	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586644	15586644	+	Silent	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:15586644C>T	ENST00000292609.4	-	2	966	c.837G>A	c.(835-837)ggG>ggA	p.G279G	PGLYRP2_ENST00000340880.4_Silent_p.G279G			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	279					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAAGGATGACCCCATCCAGGG	0.622000													24	22					0	0	0.004656	0	0
TMTC2	160335	broad.mit.edu	37	12	83526045	83526045	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:83526045G>T	ENST00000549919.1	+	13	4175	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	TMTC2_ENST00000321196.3_Missense_Mutation_p.Q796H			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	796						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCAGACTCCAGAAGGCCGAGG	0.507000													25	34					2.79863e-10	3.45713e-10	0.004656	1	0
HERC2	8924	broad.mit.edu	37	15	28501138	28501138	+	Silent	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:28501138T>A	ENST00000261609.7	-	19	2859	c.2751A>T	c.(2749-2751)tcA>tcT	p.S917S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	917					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCATTGCCTGAAACTGAAA	0.522000													45	75					0	0	0.010771	0	0
VPS11	55823	broad.mit.edu	37	11	118948776	118948776	+	Splice_Site	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:118948776G>T	ENST00000300793.6	+	11	1800	c.1758_splice	c.e11+1	p.R586_splice	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	587					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAGGCTGCAGGGTGAGGCTGC	0.552000													73	44					1.43987e-31	2.39547e-31	0.014410	1	0
TTC7B	145567	broad.mit.edu	37	14	91007809	91007809	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:91007809C>A	ENST00000357056.2	-	21	2607	c.2486G>T	c.(2485-2487)gGc>gTc	p.G829V	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.G812V			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	812							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGCATCGTTGCCCTGAGCTTG	0.667000													41	25					6.5261e-18	9.3482e-18	0.008740	1	0
OR51I1	390063	broad.mit.edu	37	11	5461917	5461917	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:5461917G>T	ENST00000380211.1	-	1	827	c.828C>A	c.(826-828)gtC>gtA	p.V276V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACATCATGACATGAACAA	0.468000													24	61					5.45024e-15	7.51687e-15	0.003330	1	0
ASTL	431705	broad.mit.edu	37	2	96795628	96795628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:96795628G>T	ENST00000342380.2	-	8	808	c.809C>A	c.(808-810)tCg>tAg	p.S270*		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	270					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGTGATGTCCGAGGCACTCAG	0.652000													37	81					1.06647e-15	1.48745e-15	0.003755	1	0
MDH1B	130752	broad.mit.edu	37	2	207613751	207613751	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:207613751C>G	ENST00000374412.3	-	7	1484	c.1209G>C	c.(1207-1209)ttG>ttC	p.L403F	MDH1B_ENST00000392214.2_Missense_Mutation_p.L190F|MDH1B_ENST00000454776.2_Missense_Mutation_p.L403F|MDH1B_ENST00000449792.1_Missense_Mutation_p.L305F	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	403					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TACCTTCACTCAATATTCCTA	0.408000													37	25					0	0	0.006230	0	0
GRAMD4	23151	broad.mit.edu	37	22	47071404	47071404	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:47071404G>T	ENST00000406902.1	+	17	1731	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	GRAMD4_ENST00000361034.3_Missense_Mutation_p.K506N|GRAMD4_ENST00000408031.1_Missense_Mutation_p.K29N			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	506	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGTCCTCAAAGAGGAACAAAG	0.552000													21	99					1.50039e-11	1.92167e-11	0.012319	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776583	77776583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:77776583C>A	ENST00000521891.2	+	11	11081	c.10633C>A	c.(10633-10635)Cct>Act	p.P3545T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3500T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3496T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3519T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3496						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTTCTTCTCCTCCTTCCCT	0.483000										HNSCC(33;0.089)			26	73					4.72057e-08	5.51311e-08	0.003954	1	0
PML	5371	broad.mit.edu	37	15	74324920	74324920	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:74324920A>T	ENST00000268058.3	+	5	1358	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	PML_ENST00000563500.1_Intron|PML_ENST00000569477.1_Missense_Mutation_p.E421V|PML_ENST00000569965.1_Missense_Mutation_p.E421V|PML_ENST00000395132.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Missense_Mutation_p.E421V|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268059.6_Missense_Mutation_p.E421V|PML_ENST00000569161.1_3'UTR|PML_ENST00000436891.3_Missense_Mutation_p.E421V|PML_ENST00000435786.2_Missense_Mutation_p.E421V|PML_ENST00000354026.6_Intron|PML_ENST00000567543.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	421					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGCCCGAGGAGGCAGAGAGA	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""								21	42					0	0	0.012319	0	0
REG1B	5968	broad.mit.edu	37	2	79313597	79313597	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:79313597C>A	ENST00000305089.3	-	4	297	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	73	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGCACAGACACCAGGTTGCCT	0.512000													28	64					6.38683e-12	8.27537e-12	0.008361	1	0
SYNE2	23224	broad.mit.edu	37	14	64548216	64548216	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:64548216T>A	ENST00000357395.3	+	57	11632	c.488T>A	c.(487-489)aTa>aAa	p.I163K	SYNE2_ENST00000554584.1_Missense_Mutation_p.I3834K|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3801K|SYNE2_ENST00000555002.1_Missense_Mutation_p.I435K|SYNE2_ENST00000394768.2_Missense_Mutation_p.I163K|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3801K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3801	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGGCTTGGATAGAAAATACC	0.463000													17	44					0	0	0.004990	0	0
KPNB1	3837	broad.mit.edu	37	17	45734381	45734381	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:45734381G>A	ENST00000290158.4	+	4	845	c.438G>A	c.(436-438)atG>atA	p.M146I	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_Start_Codon_SNP_p.M1I|KPNB1_ENST00000540627.1_Start_Codon_SNP_p.M1I|KPNB1_ENST00000537679.1_Start_Codon_SNP_p.M1I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	146					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CAGAGCACATGAAGGAGTCGA	0.468000													5	37					0	0	0.014758	0	0
NOP2	4839	broad.mit.edu	37	12	6672266	6672266	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:6672266C>A	ENST00000541778.1	-	9	1435	c.947G>T	c.(946-948)cGa>cTa	p.R316L	NOP2_ENST00000399466.2_Missense_Mutation_p.R316L|NOP2_ENST00000322166.5_Missense_Mutation_p.R320L|NOP2_ENST00000537442.1_Missense_Mutation_p.R320L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.R353L|NOP2_ENST00000545200.1_Missense_Mutation_p.R316L			P46087	NOP2_HUMAN	NOP2 nucleolar protein	320					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GTCTCGGCGTCGGGTTTTCAA	0.562000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0.014758	0.015028	0.014758	1	0
ZNF259	8882	broad.mit.edu	37	11	116658729	116658729	+	Translation_Start_Site	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:116658729C>A	ENST00000227322.3	-	0	37					NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259						cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CAATTCAGACCTCGGCTTCCT	0.741000											OREG0003484	type=REGULATORY REGION|Gene=ZNF259|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	2					0.00116845	0.00120975	0.001168	1	0
SLC2A14	144195	broad.mit.edu	37	12	7973858	7973858	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:7973858T>A	ENST00000543909.1	-	13	1756	c.997A>T	c.(997-999)Atc>Ttc	p.I333F	SLC2A14_ENST00000539924.1_Missense_Mutation_p.I348F|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I333F|SLC2A14_ENST00000340749.5_Missense_Mutation_p.I310F|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I224F|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I224F|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I310F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	333					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCGCGCTGATGGTGGCATAG	0.403000													78	114					0	0	0.014410	0	0
POLR2C	5432	broad.mit.edu	37	16	57503205	57503205	+	Splice_Site	SNP	G	G	A	rs141472105	byFrequency	TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:57503205G>A	ENST00000219252.5	+	5	725	c.387_splice	c.e5+1	p.P129_splice	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	129					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GGGTCATTCCGGTCAGTGCGG	0.562000													12	54					0	0	0.001855	0	0
FANCM	57697	broad.mit.edu	37	14	45644562	45644562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:45644562G>T	ENST00000267430.5	+	14	2690	c.2605G>T	c.(2605-2607)Gaa>Taa	p.E869*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.E843*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	869					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCTTAAAAAAGAAAATAATCA	0.264000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	40					1.23904e-05	1.33759e-05	0.014758	1	0
AIM1	202	broad.mit.edu	37	6	106960402	106960402	+	Silent	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr6:106960402G>T	ENST00000369066.3	+	1	673	c.186G>T	c.(184-186)ccG>ccT	p.P62P		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	62							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAAATCTCCGCGGGCAGCCC	0.682000													7	5					1.06961e-07	1.23494e-07	0.003080	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579553	44579553	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:44579553C>A	ENST00000289547.4	-	2	498	c.443G>T	c.(442-444)gGa>gTa	p.G148V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.G148V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G148V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G148V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	148					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGGAGTTGTCCAGCCCCTAG	0.597000													14	18					0.000308642	0.000321346	0.003163	1	0
OR2T10	127069	broad.mit.edu	37	1	248756342	248756342	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:248756342G>A	ENST00000330500.2	-	1	758	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATGTGGGAGGAGCAGGT	0.463000													23	45					0	0	0.014323	0	0
CSMD3	114788	broad.mit.edu	37	8	113418791	113418791	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr8:113418791G>T	ENST00000297405.5	-	35	6015	c.5771C>A	c.(5770-5772)tCt>tAt	p.S1924Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1884Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1854Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1820Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1924	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGGCCAAAGAATTGGGCAC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	38					2.4624e-09	2.96607e-09	0.008871	1	0
USP6	9098	broad.mit.edu	37	17	5072103	5072103	+	Missense_Mutation	SNP	G	G	T	rs144225958		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:5072103G>T	ENST00000574788.1	+	35	5500	c.3270G>T	c.(3268-3270)tgG>tgT	p.W1090C	USP6_ENST00000304328.5_Missense_Mutation_p.W773C|USP6_ENST00000250066.6_Missense_Mutation_p.W1090C|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1090					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.W1090*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGATCAGTGGATAAAATCAC	0.383000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								156	38					3.42498e-63	6.12863e-63	0.014410	1	0
MID1	4281	broad.mit.edu	37	X	10535354	10535354	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chrX:10535354G>C	ENST00000317552.4	-	2	634	c.234C>G	c.(232-234)acC>acG	p.T78T	MID1_ENST00000453318.2_Silent_p.T78T|MID1_ENST00000380785.1_Silent_p.T78T|MID1_ENST00000380782.2_Silent_p.T78T|MID1_ENST00000380779.1_Silent_p.T78T|MID1_ENST00000380787.1_Silent_p.T78T|MID1_ENST00000380780.1_Silent_p.T78T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	78					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTTCTGTAGGGTGACGTTGC	0.612000													19	131					0	0	0.007413	0	0
ASTN1	460	broad.mit.edu	37	1	177001859	177001859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:177001859C>A	ENST00000367654.2	-	3	611	c.598G>T	c.(598-600)Gag>Tag	p.E200*	ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E200*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E200*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E200*			O14525	ASTN1_HUMAN	astrotactin 1	200					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TAGTGAATCTCATTGGCTGCC	0.627000													45	45					3.4345e-17	4.86335e-17	0.011902	1	0
SBNO2	22904	broad.mit.edu	37	19	1113632	1113632	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:1113632C>T	ENST00000361757.3	-	19	2386	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	SBNO2_ENST00000587024.1_Missense_Mutation_p.D707N|SBNO2_ENST00000438103.2_Missense_Mutation_p.D660N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	717					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCAGATCCTGCTTCAGC	0.701000													7	15					0	0	0.001984	0	0
MMP12	4321	broad.mit.edu	37	11	102745637	102745637	+	RNA	SNP	C	C	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:102745637C>T	ENST00000532855.1	-	0	127							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GAAGCAGTGGCCTGCAGGAGC	0.408000													7	7					0	0	0.003080	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991413	39991413	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:39991413C>A	ENST00000332312.3	-	4	988	c.796G>T	c.(796-798)Gtg>Ttg	p.V266L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	266						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGAAGCTGCACCTTGGTCTGA	0.617000													16	54					1.99824e-07	2.28106e-07	0.004990	1	0
ABCA5	23461	broad.mit.edu	37	17	67305460	67305460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:67305460C>A	ENST00000392676.3	-	4	476	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E138*|ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E138*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	138					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAACGAAGTTCATAGGACATG	0.323000													26	27					3.73148e-12	4.85747e-12	0.007291	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53216792	53216792	+	Silent	SNP	G	G	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr13:53216792G>A	ENST00000342657.3	+	7	1238	c.165G>A	c.(163-165)agG>agA	p.R55R	HNRNPA1L2_ENST00000398039.1_Silent_p.R55R|HNRNPA1L2_ENST00000357495.2_Silent_p.R55R	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	55	Globular A domain.|RRM 1.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						AGCGCTCCAGGGGCTTTGGGT	0.502000													8	30					0	0	0.004482	0	0
MPRIP	23164	broad.mit.edu	37	17	17053524	17053524	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:17053524A>T	ENST00000395811.5	+	12	1431	c.1342A>T	c.(1342-1344)Aga>Tga	p.R448*	MPRIP_ENST00000444976.1_Nonsense_Mutation_p.R410*|MPRIP_ENST00000395804.3_Nonsense_Mutation_p.R448*|MPRIP_ENST00000341712.4_Nonsense_Mutation_p.R448*	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	448	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCAGTTCAGAGAAACTATGG	0.507000													126	34					0	0	0.014410	0	0
DSG2	1829	broad.mit.edu	37	18	29110998	29110998	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:29110998G>T	ENST00000261590.8	+	9	1272	c.1063G>T	c.(1063-1065)Gct>Tct	p.A355S		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	355	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTTATTGTCGCTAATAAAGC	0.358000													19	15					5.03518e-11	6.35392e-11	0.007413	1	0
HMP19	51617	broad.mit.edu	37	5	173534487	173534487	+	Silent	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:173534487G>C	ENST00000303177.3	+	5	757	c.495G>C	c.(493-495)ccG>ccC	p.P165P	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1																					AGCCCAAGCCGCCCAAGACCC	0.642000													3	30					0	0	0.004672	0	0
ASIC4	55515	broad.mit.edu	37	2	220379616	220379616	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:220379616C>A	ENST00000358078.4	+	1	565	c.551C>A	c.(550-552)gCc>gAc	p.A184D	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.A184D			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	184						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTGGGCCGGGCCTGTGGCCCA	0.716000													15	87					0.000219431	0.000230403	0.002450	1	0
CCL8	6355	broad.mit.edu	37	17	32647389	32647389	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:32647389C>G	ENST00000394620.1	+	2	644	c.178C>G	c.(178-180)Ccc>Gcc	p.P60A		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	60					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				CATCCAATGTCCCAAGGAAGC	0.453000													15	22					0	0	0.004007	0	0
IRX2	153572	broad.mit.edu	37	5	2747690	2747690	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:2747690C>A	ENST00000382611.6	-	4	1652	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H	IRX2_ENST00000302057.5_Missense_Mutation_p.Q468H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	468						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		ATAGGTAGGGCTGGACGCCCC	0.627000													15	109					2.31682e-05	2.48662e-05	0.003163	1	0
DMRT1	1761	broad.mit.edu	37	9	893983	893983	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:893983G>T	ENST00000382276.3	+	3	759	c.610G>T	c.(610-612)Gtt>Ttt	p.V204F	DMRT1_ENST00000569227.1_Missense_Mutation_p.V46F	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	204					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACCTGACCTGGTTTCAGACTC	0.473000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	25					1.30998e-17	1.86208e-17	0.005524	1	0
GOLGA6A	342096	broad.mit.edu	37	15	74368267	74368267	+	Silent	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:74368267C>A	ENST00000290438.3	-	8	664	c.624G>T	c.(622-624)cgG>cgT	p.R208R		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	208										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCAGCAGCGCCCGCTCCTTTA	0.582000													37	97					1.62957e-23	2.56174e-23	0.008740	1	0
FRYL	285527	broad.mit.edu	37	4	48584702	48584702	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr4:48584702G>C	ENST00000358350.4	-	20	2402	c.1798C>G	c.(1798-1800)Ctg>Gtg	p.L600V	FRYL_ENST00000506685.1_Missense_Mutation_p.L306V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.L600V|FRYL_ENST00000537810.1_Missense_Mutation_p.L600V|FRYL_ENST00000507711.1_Missense_Mutation_p.L600V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTGCCTGCAGAGTATTGAAA	0.393000													19	43					0	0	0.008871	0	0
OR6K2	81448	broad.mit.edu	37	1	158669658	158669658	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:158669658C>A	ENST00000359610.2	-	1	828	c.785G>T	c.(784-786)cGc>cTc	p.R262L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGCAGAGAAGCGTAGGTACAT	0.478000													21	22					4.96729e-08	5.7891e-08	0.008871	1	0
TRIM11	81559	broad.mit.edu	37	1	228582607	228582607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr1:228582607delC	ENST00000493030.2	-	5	4540	c.831delG	c.(829-831)agfs	p.R278fs	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Frame_Shift_Del_p.R403fs			Q96F44	TRI11_HUMAN	tripartite motif containing 11	403	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCCCCACGCGCCTGGGTGGGT	0.597													16	64	---	---	---	---					
TCF23	150921	broad.mit.edu	37	2	27375589	27375589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:27375589delG	ENST00000296096.5	+	3	629	c.499delG	c.(499-501)gcfs	p.G167fs		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	167					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATGCTGGAGGCCTGGGGTA	0.567													23	39	---	---	---	---					
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:46608739delG	ENST00000263734.3	+	13	2560	c.2050delG	c.(2050-2052)cafs	p.A684fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582													7	49	---	---	---	---					
GKN1	56287	broad.mit.edu	37	2	69204875	69204876	+	In_Frame_Ins	INS	-	-	CTC			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:69204875_69204876insCTC	ENST00000377938.2	+	3	278_279	c.215_216insCTC	c.(214-216)gtc>gCTCtc	p.72_72V>AL		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	72	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						AACGGATGGGACTCCTGGAATT	0.381													19	36	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79255001	79255001	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:79255001delG	ENST00000272324.5	+	5	586	c.402delG	c.(400-402)gafs	p.E134fs	REG3G_ENST00000409471.1_Frame_Shift_Del_p.E88fs|REG3G_ENST00000393897.2_Frame_Shift_Del_p.E134fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	134	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCATGGGAGAAAAATCCCT	0.507													33	95	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													7	125	---	---	---	---					
SERPINI2	5276	broad.mit.edu	37	3	167183320	167183320	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr3:167183320delT	ENST00000476257.1	-	5	918	c.620delA	c.(619-621)atfs	p.N207fs	SERPINI2_ENST00000461846.1_Frame_Shift_Del_p.N207fs|SERPINI2_ENST00000471111.1_Frame_Shift_Del_p.N207fs|SERPINI2_ENST00000264677.4_Frame_Shift_Del_p.N207fs			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	207					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGTTGAACCATTTTTCTTAGT	0.368													17	57	---	---	---	---					
FBXL7	23194	broad.mit.edu	37	5	15936912	15936912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:15936912delG	ENST00000504595.1	+	4	1574	c.1093delG	c.(1093-1095)acfs	p.D365fs	FBXL7_ENST00000329673.7_Frame_Shift_Del_p.D353fs|FBXL7_ENST00000510662.1_Frame_Shift_Del_p.D318fs	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	365					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGGGTCACCGACGTGGGCAT	0.677													7	70	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33683166	33683167	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:33683166_33683167insT	ENST00000504830.1	-	5	1206_1207	c.871_872insA	c.(871-873)tcafs	p.S291fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.S291fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	291	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AACAATGTGAATTGCATTGCCA	0.411										HNSCC(64;0.19)			21	81	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36677122	36677122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:36677122delC	ENST00000265113.4	+	6	1172	c.696delC	c.(694-696)gtfs	p.V232fs	SLC1A3_ENST00000381918.3_Frame_Shift_Del_p.V232fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	232					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGGAGCTGGTCCCAGTTCCAG	0.507													18	130	---	---	---	---					
ACSL6	23305	broad.mit.edu	37	5	131308509	131308509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:131308509delC	ENST00000379264.2	-	13	1354	c.1246delG	c.(1246-1248)agfs	p.E416fs	ACSL6_ENST00000543479.1_Frame_Shift_Del_p.E391fs|ACSL6_ENST00000379244.1_Frame_Shift_Del_p.E391fs|ACSL6_ENST00000379246.1_Frame_Shift_Del_p.E402fs|ACSL6_ENST00000379255.1_Frame_Shift_Del_p.E316fs|ACSL6_ENST00000544770.1_Frame_Shift_Del_p.E300fs|ACSL6_ENST00000357096.1_Frame_Shift_Del_p.E316fs|ACSL6_ENST00000379249.3_Frame_Shift_Del_p.E391fs|ACSL6_ENST00000431707.1_Frame_Shift_Del_p.E371fs|ACSL6_ENST00000296869.4_Frame_Shift_Del_p.E416fs|ACSL6_ENST00000379240.1_Frame_Shift_Del_p.E391fs|ACSL6_ENST00000379272.2_Frame_Shift_Del_p.E406fs	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	391					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCAAACTCCAGGAGCCAG	0.443													44	20	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													7	1	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													4	6	---	---	---	---					
REPIN1	29803	broad.mit.edu	37	7	150069439	150069439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr7:150069439delC	ENST00000397281.2	+	4	1598	c.1109delC	c.(1108-1110)gcfs	p.A370fs	REPIN1_ENST00000425389.2_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000489432.2_Frame_Shift_Del_p.A427fs|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000444957.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	370	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGATCGAAGCCCCCCCCTCC	0.751													2	4	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116356346	116356346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:116356346delG	ENST00000462403.1	+	1	581	c.147delG	c.(145-147)ctfs	p.L49fs	RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCCCTCCTGGTCCCTCCCA	0.627													106	77	---	---	---	---					
TTLL11	158135	broad.mit.edu	37	9	124855330	124855331	+	In_Frame_Ins	INS	-	-	TGGCCT	rs3833704		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr9:124855330_124855331insTGGCCT	ENST00000321582.5	-	1	554_555	c.367_368insAGGCCA	c.(367-369)agc>AGGCCAagc	p.122_123insRP	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	122					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						cgtctccgctgtggcctcggcc	0.762													7	1	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55582747	55582747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:55582747delA	ENST00000361849.3	-	34	5139	c.4745delT	c.(4744-4746)tafs	p.L1582fs	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Frame_Shift_Del_p.L1511fs|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.L1540fs|PCDH15_ENST00000395433.1_Frame_Shift_Del_p.L1557fs|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Frame_Shift_Del_p.L1580fs|PCDH15_ENST00000395430.1_Frame_Shift_Del_p.L1577fs	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	1580					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)				CCTCCTGGGTAAGCTGACTGA	0.468										HNSCC(58;0.16)			17	94	---	---	---	---					
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1857)aaafs	p.K619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391													7	27	---	---	---	---					
KRTAP5-3	387266	broad.mit.edu	37	11	1629477	1629477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:1629477delA	ENST00000399685.1	-	1	216	c.139delT	c.(139-141)gcfs	p.C48fs		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	48	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGCACACAGCAGCACACGGGC	0.682													94	229	---	---	---	---					
GRIA4	2893	broad.mit.edu	37	11	105623944	105623944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr11:105623944delG	ENST00000393127.2	+	4	931	c.485delG	c.(484-486)agfs	p.R162fs	GRIA4_ENST00000530497.1_Frame_Shift_Del_p.R162fs|GRIA4_ENST00000393125.2_Frame_Shift_Del_p.R162fs|GRIA4_ENST00000428631.2_Frame_Shift_Del_p.R162fs|GRIA4_ENST00000525187.1_Frame_Shift_Del_p.R162fs|GRIA4_ENST00000282499.5_Frame_Shift_Del_p.R162fs	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	162					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACACAGACAGGGGTAAGTCC	0.393													19	58	---	---	---	---					
VPS33A	65082	broad.mit.edu	37	12	122716929	122716929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr12:122716929delC	ENST00000267199.4	-	13	1767	c.1655delG	c.(1654-1656)gcfs	p.G552fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.G513fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	552					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GAAGGTTACGCCCCCAAGGAA	0.398													33	54	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	33291213	33291213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr14:33291213delG	ENST00000280979.4	+	13	4364	c.4194delG	c.(4192-4194)ctfs	p.L1398fs	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1398					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGAACATCTGGACCCACAAA	0.438													22	49	---	---	---	---					
SPESP1	246777	broad.mit.edu	37	15	69238614	69238614	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr15:69238614delC	ENST00000310673.3	+	2	895	c.741delC	c.(739-741)aafs	p.N247fs	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	247					multicellular organismal development	acrosomal vesicle		p.N247K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ACACCAGCAACCCAGCATATA	0.363													22	50	---	---	---	---					
MRPL28	10573	broad.mit.edu	37	16	418630	418630	+	Frame_Shift_Del	DEL	C	C	-	rs143007789		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:418630delC	ENST00000199706.8	-	4	482	c.447delG	c.(445-447)ccfs	p.P149fs	MRPL28_ENST00000389675.2_Frame_Shift_Del_p.P149fs|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	149				TPK -> ASG (in Ref. 4).	translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGTCCTCCTTCGGGGTCTGGC	0.677													42	81	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546140	3546141	+	RNA	INS	-	-	A	rs74546027		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr16:3546140_3546141insA	ENST00000574423.2	+	0	111																											gactccgtctcaaaaaaaaaaa	0.559													6	1	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27614191	27614205	+	In_Frame_Del	DEL	TCTACTCGATTTCCC	TCTACTCGATTTCCC	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:27614191_27614205delTCTACTCGATTTCCC	ENST00000225388.4	-	2	865_879	c.807_821delGGGAAATCGAGTAGA	c.(805-822)aat>aa	p.KGNRVD269del	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	269						nucleus|polysomal ribosome	protein binding|RNA binding	p.R272*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTCGAACCATCTACTCGATTTCCCTTTTGTTCAC	0.428													11	137	---	---	---	---					
KIF19	124602	broad.mit.edu	37	17	72351386	72351387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr17:72351386_72351387insG	ENST00000389916.4	+	20	3070_3071	c.2932_2933insG	c.(2932-2934)tggfs	p.W978fs		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	978					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R978H(1)		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						ACGGGCTACCCGTGGGCCCCGC	0.658													20	66	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34335270	34335270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr18:34335270delC	ENST00000257209.4	+	22	4018	c.3896delC	c.(3895-3897)acfs	p.T1299fs	FHOD3_ENST00000359247.4_Frame_Shift_Del_p.T1282fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.T1474fs|FHOD3_ENST00000591635.1_Frame_Shift_Del_p.T495fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.T1261fs|FHOD3_ENST00000592128.1_Frame_Shift_Del_p.T278fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1282					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAGATGATCACCGATGTAAGT	0.428													9	5	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221314	1221314	+	Frame_Shift_Del	DEL	C	C	-	rs121913321		TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:1221314delC	ENST00000326873.7	+	6	2010	c.837delC	c.(835-837)ggfs	p.G279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACTGTGGCCCCCCGCTCT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	5	---	---	---	---					
USHBP1	83878	broad.mit.edu	37	19	17375084	17375084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:17375084delG	ENST00000252597.3	-	2	198	c.25delC	c.(25-27)gafs	p.R9fs	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	9							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGCCGGCTTCGGGGCCGCGTG	0.632													14	18	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299289	46299289	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:46299289delG	ENST00000221538.3	-	6	2134	c.1992delC	c.(1990-1992)ccfs	p.P664fs	RSPH6A_ENST00000597055.1_Frame_Shift_Del_p.P663fs|RSPH6A_ENST00000600188.1_Frame_Shift_Del_p.P400fs	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	664	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTTGTTGAATGGGGGCTGGCA	0.567													239	105	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54841773	54841774	+	RNA	INS	-	-	T			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr19:54841773_54841774insT	ENST00000507363.1	-	0	430																											GACCCCTTTCCTGAGGGCAGAG	0.589													5	7	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36668900	36668900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:36668900delG	ENST00000373433.4	+	2	617	c.215delG	c.(214-216)agfs	p.R72fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	72	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AACAGTAAAAGGAAAGGACCT	0.318													24	84	---	---	---	---					
TOX2	84969	broad.mit.edu	37	20	42680094	42680094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr20:42680094delC	ENST00000358131.5	+	4	795	c.587delC	c.(586-588)gcfs	p.A196fs	TOX2_ENST00000372999.1_Frame_Shift_Del_p.A145fs|TOX2_ENST00000341197.3_Frame_Shift_Del_p.A187fs|TOX2_ENST00000435864.2_Frame_Shift_Del_p.A65fs|TOX2_ENST00000423191.1_Frame_Shift_Del_p.A145fs	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAGCATCGCCCACAGCTCC	0.657													23	34	---	---	---	---					
SRRD	402055	broad.mit.edu	37	22	26884164	26884165	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-78-7220-01A-11D-2036-08	TCGA-78-7220-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4875f5f5-61f6-47fb-8ffe-f28ed945c5d2	87da45d5-2771-42ed-93e3-b9f5ea2d2d72	g.chr22:26884164_26884165delGT	ENST00000215917.6	+	3	434_435	c.420_421delGT	c.(418-423)aagtfs	p.KC140fs		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	140					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCCATTTGAAGTGTGTGTGTTA	0.460													25	80	---	---	---	---					
