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
TXLNB	167838	broad.mit.edu	37	6	139564198	139564198	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:139564198A>C	ENST00000358430.3	-	10	1752	c.1520T>G	c.(1519-1521)tTc>tGc	p.F507C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	507						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AATTATCATGAAGGCTGTGGC	0.507000													31	84					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175725	159175725	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:159175725A>T	ENST00000537147.1	+	3	1339	c.496A>T	c.(496-498)Acc>Tcc	p.T166S	DARC_ENST00000368122.2_Missense_Mutation_p.T166S|DARC_ENST00000368121.2_Missense_Mutation_p.T168S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	166					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCCAGGCCTCACCCTGGGGCT	0.617000													8	19					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86097134	86097134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:86097134C>T	ENST00000445632.2	+	2	393	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCDC81_ENST00000354755.1_Missense_Mutation_p.R41W|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	41										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATTTGTGAGACGGCAGTTAAC	0.299000													5	34					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756310	72756310	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:72756310T>C	ENST00000325509.4	-	1	393	c.104A>G	c.(103-105)gAg>gGg	p.E35G	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	35					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTAGCTGCGCTCTACGCCGCG	0.716000													4	22					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29795918	29795918	+	Missense_Mutation	SNP	G	G	T	rs139201156	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:29795918G>T	ENST00000428701.1	+	3	346	c.168G>T	c.(166-168)caG>caT	p.Q56H	HLA-G_ENST00000376815.3_Missense_Mutation_p.Q56H|HLA-G_ENST00000360323.6_Missense_Mutation_p.Q56H|HLA-G_ENST00000376828.2_Missense_Mutation_p.Q61H|HLA-G_ENST00000376818.3_Missense_Mutation_p.Q56H	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	56	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACGACACGCAGTTCGTGCGGT	0.697000													32	14					2.47316e-13	3.1523e-13	1	1	0
SDK2	54549	broad.mit.edu	37	17	71380021	71380021	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:71380021G>A	ENST00000392650.3	-	33	4699	c.4699C>T	c.(4699-4701)Ctt>Ttt	p.L1567F	SDK2_ENST00000388726.3_Missense_Mutation_p.L1567F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1567	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACAGGTAAGCTCAGCCCAT	0.612000													31	57					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973244	115973244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:115973244G>C	ENST00000251864.2	+	15	2124	c.1971G>C	c.(1969-1971)gaG>gaC	p.E657D	TDRD1_ENST00000369281.2_Missense_Mutation_p.E600D|TDRD1_ENST00000369282.1_Missense_Mutation_p.E657D|TDRD1_ENST00000369280.1_Missense_Mutation_p.E657D|TDRD1_ENST00000422662.1_Missense_Mutation_p.E261D	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	657					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)		ATAAATCCGAGACGCCTCATG	0.423000													46	73					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125542601	125542601	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:125542601G>C	ENST00000533904.1	-	4	1027	c.685C>G	c.(685-687)Caa>Gaa	p.Q229E	ACRV1_ENST00000433875.1_Missense_Mutation_p.Q210E|ACRV1_ENST00000353070.1_Missense_Mutation_p.Q45E|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q85E|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q129E|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.Q119E|ACRV1_ENST00000426183.1_Missense_Mutation_p.Q159E|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q140E|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q134E|ACRV1_ENST00000257382.2_Missense_Mutation_p.Q174E			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	229					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACCATGAATTGGAGTTTTCCA	0.458000													14	153					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140992417	140992417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:140992417G>T	ENST00000389484.3	-	90	14568	c.13597C>A	c.(13597-13599)Ctt>Att	p.L4533I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4533					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)		gtgtgtggaagcttgaaagca	0.408000										TSP Lung(27;0.18)			9	9					0.000219431	0.000233692	1	1	0
HPS1	3257	broad.mit.edu	37	10	100189559	100189559	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:100189559A>T	ENST00000325103.6	-	9	1089	c.856T>A	c.(856-858)Tct>Act	p.S286T	HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Missense_Mutation_p.S286T|HPS1_ENST00000338546.5_Missense_Mutation_p.S286T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	286					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GTCTCTGCAGAGCTCCCCCCA	0.687000									Hermansky-Pudlak syndrome				66	119					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902593	52902593	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:52902593T>A	ENST00000371544.3	-	26	4255	c.3993A>T	c.(3991-3993)gaA>gaT	p.E1331D	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1332D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1331					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTTCTCTTCTTCATTCCCTT	0.428000													9	66					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8060557	8060557	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:8060557G>T	ENST00000305253.4	+	1	378	c.137G>T	c.(136-138)cGg>cTg	p.R46L	RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000528151.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCCCTGAAACGGGGCCACCGA	0.572000													13	37					1.5739e-10	1.89766e-10	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42530898	42530898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:42530898G>T	ENST00000282030.5	+	4	1889	c.1593G>T	c.(1591-1593)agG>agT	p.R531S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	531						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAACGAAGGTGGACTTGCA	0.512000									Schinzel-Giedion syndrome				85	110					2.5963e-48	4.38912e-48	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466487	56466487	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:56466487C>A	ENST00000291971.3	+	3	1134	c.1063C>A	c.(1063-1065)Ccg>Acg	p.P355T	NLRP8_ENST00000590542.1_Missense_Mutation_p.P355T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	355	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGTAACCCTTCCGGGGTTTAA	0.453000													16	84					5.35356e-11	6.47426e-11	1	1	0
SNAP25	6616	broad.mit.edu	37	20	10273813	10273813	+	Silent	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:10273813A>G	ENST00000254976.2	+	5	379	c.168A>G	c.(166-168)caA>caG	p.Q56Q	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	56	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATCAGAACAACTGGAACGCA	0.378000													32	128					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177242663	177242663	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:177242663T>A	ENST00000361539.4	+	5	1021	c.709T>A	c.(709-711)Tat>Aat	p.Y237N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		237						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						CTGCAGCAACTATGACAATCT	0.468000													14	42					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027893	109027893	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:109027893C>A	ENST00000478945.1	-	5	622	c.376G>T	c.(376-378)Gct>Tct	p.A126S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	126	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAGGGTAAGCATGCCTATGA	0.428000													16	64					1.45105e-14	1.88543e-14	1	1	0
KCNS2	3788	broad.mit.edu	37	8	99441160	99441160	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:99441160T>A	ENST00000287042.4	+	2	1303	c.953T>A	c.(952-954)cTg>cAg	p.L318Q	KCNS2_ENST00000521839.1_Missense_Mutation_p.L318Q	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTCCGCTCCCTGGGGGCCACT	0.567000													12	57					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101254	71101254	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:71101254C>G	ENST00000393567.2	-	15	2164	c.2014G>C	c.(2014-2016)Gca>Cca	p.A672P	HYDIN_ENST00000393550.2_Missense_Mutation_p.A687P|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672P|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689P|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689P|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699P|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672P|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672										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)				ACCACGAGTGCCAGCTCGTAT	0.532000													19	49					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191098	2191098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:2191098G>T	ENST00000381178.1	-	3	205	c.187C>A	c.(187-189)Ccg>Acg	p.P63T	TH_ENST00000381175.1_Missense_Mutation_p.P59T|TH_ENST00000333684.5_Missense_Mutation_p.P36T|TH_ENST00000352909.3_Missense_Mutation_p.P32T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	63					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ATGAACCGCGGGGACTGTGGG	0.716000													4	14					3.59834e-05	3.86809e-05	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626443	187626443	+	Missense_Mutation	SNP	C	C	A	rs149426133	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:187626443C>A	ENST00000304698.5	+	8	1577	c.1374C>A	c.(1372-1374)gaC>gaA	p.D458E		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	458						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAACTCGGGACGATTTTAAAA	0.373000													17	14					2.35188e-11	2.8658e-11	1	1	0
BBS7	55212	broad.mit.edu	37	4	122754517	122754517	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:122754517G>C	ENST00000264499.4	-	15	1728	c.1545C>G	c.(1543-1545)ttC>ttG	p.F515L	BBS7_ENST00000506636.1_Missense_Mutation_p.F515L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	515					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAGCAAAACTGAACTGGCCTG	0.408000									Bardet-Biedl syndrome				18	54					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197208448	197208448	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:197208448C>A	ENST00000260983.2	-	3	515	c.333G>T	c.(331-333)agG>agT	p.R111S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	111					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAGTCACACCCCTGTTCTTAG	0.378000													80	104					7.79919e-48	1.31295e-47	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7528087	7528087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:7528087G>T	ENST00000313599.3	-	11	2848	c.2791C>A	c.(2791-2793)Cca>Aca	p.P931T	CD163L1_ENST00000416109.2_Missense_Mutation_p.P941T|CD163L1_ENST00000396630.1_Missense_Mutation_p.P931T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	931	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCATCTTCTGGGTCCCAGTGG	0.527000													7	27					2.0095e-06	2.21957e-06	1	1	0
STXBP4	252983	broad.mit.edu	37	17	53084905	53084905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:53084905G>T	ENST00000376352.2	+	8	820	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	STXBP4_ENST00000398391.2_Nonsense_Mutation_p.E130*|STXBP4_ENST00000405898.1_Nonsense_Mutation_p.E205*|STXBP4_ENST00000299341.4_Nonsense_Mutation_p.E130*|STXBP4_ENST00000434978.2_Nonsense_Mutation_p.E205*	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	205						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGGGCTACAAGAAAAGATCTC	0.358000													311	263					3.42536e-197	6.0056e-197	1	1	0
CUL7	9820	broad.mit.edu	37	6	43019123	43019123	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:43019123C>T	ENST00000535468.1	-	4	1154	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	CUL7_ENST00000265348.3_Silent_p.A272A	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	272					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCCTGGCTCCGCAGCACTGT	0.587000													4	33					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452054	100452054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:100452054C>A	ENST00000279907.7	-	14	3213	c.3001G>T	c.(3001-3003)Gat>Tat	p.D1001Y	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D651Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1001										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAAATGAATCCTTTTTGTCA	0.308000													11	96					4.29497e-23	6.1477e-23	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113341783	113341783	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:113341783A>T	ENST00000401783.2	-	1	377	c.41T>A	c.(40-42)cTc>cAc	p.L14H	SVEP1_ENST00000374461.1_5'UTR|SVEP1_ENST00000374469.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.L14H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	14					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCCGAAACGAGCGCCAGACC	0.711000													6	6					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371673	240371673	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:240371673G>T	ENST00000319653.9	+	5	3791	c.3561G>T	c.(3559-3561)ccG>ccT	p.P1187P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1187	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)			TACCTCCTCCGCCCCCTCTAC	0.677000													36	100					3.86361e-14	4.9879e-14	1	1	0
SBSN	374897	broad.mit.edu	37	19	36015812	36015812	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:36015812G>T	ENST00000452271.2	-	2	1681	c.1653C>A	c.(1651-1653)agC>agA	p.S551R	SBSN_ENST00000518157.1_Missense_Mutation_p.S208R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	208						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGAAGATCCGCTTTGATGGT	0.617000													12	27					1.02788e-11	1.25822e-11	1	1	0
NOS1	4842	broad.mit.edu	37	12	117710245	117710245	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:117710245C>A	ENST00000317775.6	-	10	2469	c.1784G>T	c.(1783-1785)gGc>gTc	p.G595V	NOS1_ENST00000338101.4_Missense_Mutation_p.G595V|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)	595					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			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)	AATCTCTGTGCCCATGTACCA	0.587000													61	29					4.64241e-40	7.59237e-40	1	1	0
TMEM202	338949	broad.mit.edu	37	15	72698967	72698967	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:72698967T>A	ENST00000341689.3	+	3	416	c.362T>A	c.(361-363)tTc>tAc	p.F121Y	TMEM202_ENST00000567679.1_Missense_Mutation_p.S36T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	121						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCCAGGGCCTTCTTTCTCATC	0.468000													22	40					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22678111	22678111	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:22678111C>G	ENST00000376603.2	+	7	1245	c.1103C>G	c.(1102-1104)gCa>gGa	p.A368G	SPAG6_ENST00000313311.6_Missense_Mutation_p.A292G|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.A292G|SPAG6_ENST00000538630.1_Missense_Mutation_p.A267G|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	292					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.A292V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTAGTTAACGCAGGAGGGGTT	0.478000													27	16					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537587	73537587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:73537587C>A	ENST00000224721.6	+	38	5016	c.5011C>A	c.(5011-5013)Ccc>Acc	p.P1671T		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1666	Cadherin 16.		T -> S.		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						GGATGAGGGTCCCAACGGCAC	0.577000													22	35					6.32553e-13	7.96144e-13	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90857782	90857782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:90857782G>T	ENST00000394980.1	+	7	3270	c.2951G>T	c.(2950-2952)tGt>tTt	p.C984F	MMRN1_ENST00000508372.1_Missense_Mutation_p.C726F|MMRN1_ENST00000264790.2_Missense_Mutation_p.C984F|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	984					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)		AATTTAACTTGTTGTATAGAT	0.363000													26	29					9.39395e-14	1.20887e-13	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930264	46930264	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:46930264T>A	ENST00000264318.3	-	9	2625	c.1643A>T	c.(1642-1644)gAg>gTg	p.E548V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	548					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTGATTTCTCCATAGTGTC	0.294000													12	45					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476465	140476465	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140476465C>A	ENST00000194155.4	+	1	2239	c.2091C>A	c.(2089-2091)gcC>gcA	p.A697A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		697					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGTTGGCCTCGGTGTCTT	0.701000													37	84					3.28615e-30	5.00718e-30	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46053535	46053535	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:46053535G>T	ENST00000295452.4	-	8	1204	c.1037C>A	c.(1036-1038)gCa>gAa	p.A346E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	346					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATCAAGGCTGCAAAAACAAA	0.373000													9	22					2.74318e-10	3.28282e-10	1	1	0
C7	730	broad.mit.edu	37	5	40937664	40937664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:40937664C>A	ENST00000313164.9	+	6	798	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	147	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTACAATGAACTCACTGGCCA	0.393000													32	20					2.45108e-15	3.21604e-15	1	1	0
SRSF6	6431	broad.mit.edu	37	20	42089428	42089428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:42089428G>T	ENST00000244020.3	+	6	866	c.760G>T	c.(760-762)Gat>Tat	p.D254Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	254	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GCCCAAGTCTGATCGGGGCTC	0.483000													4	34					8.12818e-05	8.69099e-05	1	1	0
BIN1	274	broad.mit.edu	37	2	127826603	127826603	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:127826603C>A	ENST00000316724.5	-	6	827	c.416G>T	c.(415-417)cGc>cTc	p.R139L	BIN1_ENST00000357970.3_Missense_Mutation_p.R139L|BIN1_ENST00000351659.3_Missense_Mutation_p.R139L|BIN1_ENST00000409400.1_Missense_Mutation_p.R139L|BIN1_ENST00000376113.2_Missense_Mutation_p.R139L|BIN1_ENST00000393041.3_Missense_Mutation_p.R139L|BIN1_ENST00000346226.3_Missense_Mutation_p.R139L|BIN1_ENST00000352848.3_Missense_Mutation_p.R139L|BIN1_ENST00000393040.3_Missense_Mutation_p.R139L|BIN1_ENST00000259238.4_Missense_Mutation_p.R139L|BIN1_ENST00000348750.4_Missense_Mutation_p.R139L	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	139	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGGCAATGCGTGACTGGGG	0.627000													23	21					6.44725e-10	7.66984e-10	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34038111	34038111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:34038111C>A	ENST00000373381.4	-	50	7933	c.7757G>T	c.(7756-7758)tGt>tTt	p.C2586F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2588	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCACGGACACACTGTGGTGG	0.567000													75	74					1.26289e-39	2.057e-39	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40740605	40740605	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:40740605G>T	ENST00000298910.7	+	42	6218	c.6160G>T	c.(6160-6162)Gct>Tct	p.A2054S		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2054	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAACCAACAGGCTGATGTTTA	0.358000													28	17					3.76114e-14	4.86343e-14	1	1	0
CD109	135228	broad.mit.edu	37	6	74472503	74472503	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:74472503A>C	ENST00000437994.2	+	9	1326	c.895A>C	c.(895-897)Atg>Ctg	p.M299L	CD109_ENST00000422508.2_Missense_Mutation_p.M222L|CD109_ENST00000287097.5_Missense_Mutation_p.M299L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	299						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATGAAGAGATGAAAAATGT	0.303000													19	15					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779653	36779653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:36779653C>A	ENST00000416516.2	-	2	988	c.498G>T	c.(496-498)atG>atT	p.M166I		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	166						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						GGCCCTTCCCCATATCCAGCT	0.572000													38	37					3.88204e-17	5.21284e-17	1	1	0
SHC3	53358	broad.mit.edu	37	9	91652958	91652958	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:91652958T>C	ENST00000375835.4	-	11	1912	c.1606A>G	c.(1606-1608)Atg>Gtg	p.M536V	SHC3_ENST00000375830.1_Missense_Mutation_p.M84V|SHC3_ENST00000375831.1_Missense_Mutation_p.M84V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	536	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCATTGTGCATGCCCGTGAGG	0.642000													27	66					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244520	233244520	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:233244520G>T	ENST00000392027.2	+	5	800	c.531G>T	c.(529-531)tcG>tcT	p.S177S	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	177						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCACGCCTCGCCAGCCGGCA	0.642000													9	31					5.16669e-11	6.25769e-11	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478635	21478635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:21478635C>T	ENST00000281523.2	-	5	1018	c.500G>A	c.(499-501)aGt>aAt	p.S167N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	167	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCATAACACTGCTTTTGCG	0.443000													10	34					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52907311	52907311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:52907311C>A	ENST00000281741.4	-	19	2345	c.1974G>T	c.(1972-1974)ttG>ttT	p.L658F	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	658					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAAATGAATCCAAGTATTTCT	0.284000													21	16					7.88262e-20	1.09511e-19	1	1	0
BMP7	655	broad.mit.edu	37	20	55803373	55803373	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:55803373G>A	ENST00000395863.3	-	2	1028	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	BMP7_ENST00000395864.3_Missense_Mutation_p.R175W|BMP7_ENST00000450594.2_Missense_Mutation_p.R175W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	175					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGTAGATCCGGAATTCGGCT	0.532000													28	242					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935263	30935263	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:30935263A>T	ENST00000355537.3	+	2	941	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	265					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)					AGCGTGCAGGAGGACGCGGTG	0.701000													8	4					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929856	156929856	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:156929856G>T	ENST00000257527.4	-	12	1341	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ADAM19_ENST00000517905.1_Missense_Mutation_p.N421K|ADAM19_ENST00000394020.1_Missense_Mutation_p.N423K|ADAM19_ENST00000430702.2_Missense_Mutation_p.N154K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	421	Disintegrin.				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)			CCAGATACCCGTTCCCACACC	0.527000													89	85					9.45097e-43	1.568e-42	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112147373	112147373	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:112147373G>C	ENST00000455480.2	+	5	752	c.575G>C	c.(574-576)aGg>aCg	p.R192T	ACAD10_ENST00000549590.1_Missense_Mutation_p.R192T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.R192T|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	192							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCAGACCCTAGGATCTACAAG	0.517000													4	40					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88900916	88900916	+	Splice_Site	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:88900916T>C	ENST00000347404.5	-	6	1093		c.e6-2		KITLG_ENST00000378535.4_Splice_Site|KITLG_ENST00000357116.4_Splice_Site|KITLG_ENST00000228280.5_Splice_Site	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand						cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TGGCCTTCCCTATAATTTAAA	0.418000									Testicular Cancer, Familial Clustering of				13	17					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307917	207307917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:207307917G>T	ENST00000367070.3	+	9	1447	c.1253G>T	c.(1252-1254)cGa>cTa	p.R418L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	418	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGAGTCCCCGAACACCATCA	0.378000													25	64					2.68265e-12	3.31921e-12	1	1	0
MIR298	100126296	broad.mit.edu	37	20	57393348	57393348	+	RNA	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:57393348C>G	ENST00000401212.1	-	0	20					NR_030580.1																						GAGAACCTCCCTGCTTCTGCT	0.567000													4	39					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005748	42005748	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:42005748C>G	ENST00000395925.3	-	15	3007	c.2923G>C	c.(2923-2925)Gcc>Ccc	p.A975P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	975					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						CTCCTCGGGGCATGAACTGGA	0.741000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				2	10					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652283	20652283	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:20652283G>T	ENST00000525748.1	+	10	1819	c.1546G>T	c.(1546-1548)Gcc>Tcc	p.A516S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	516					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGCATCTTTGCCGGCTTCGT	0.498000													49	69					4.32865e-36	6.95181e-36	1	1	0
USP24	23358	broad.mit.edu	37	1	55589208	55589208	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:55589208T>C	ENST00000294383.6	-	36	4187	c.4188A>G	c.(4186-4188)caA>caG	p.Q1396Q	USP24_ENST00000407756.1_Silent_p.Q1236Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1396					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATACAGACTGTTGTCGAACAC	0.502000													9	3					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134037950	134037950	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:134037950C>T	ENST00000534548.2	-	27	3578	c.3514G>A	c.(3514-3516)Gat>Aat	p.D1172N		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.D1172H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCATGTCATCTTCTTCCATA	0.453000													63	85					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412823	158412823	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:158412823A>T	ENST00000243349.7	-	3	686	c.326T>A	c.(325-327)cTt>cAt	p.L109H	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.L59H|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	109					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CATGGGTCCAAGTTTTGGGGC	0.443000													18	45					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312223	45312223	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:45312223G>A	ENST00000313237.5	-	4	651	c.501C>T	c.(499-501)acC>acT	p.T167T	PHF21B_ENST00000403565.1_Silent_p.T5T|PHF21B_ENST00000404079.2_Silent_p.T155T|PHF21B_ENST00000447824.3_Silent_p.T155T|PHF21B_ENST00000396103.3_Silent_p.T167T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	167							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAGACACGGCGGTGCTGGGGG	0.672000													27	7					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275562	13275562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:13275562G>T	ENST00000378681.3	-	3	268	c.196C>A	c.(196-198)Ccc>Acc	p.P66T	UCMA_ENST00000463405.2_Missense_Mutation_p.P44T	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	66						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CTGGACTTGGGGGACCGCTTG	0.582000													41	63					1.78839e-46	3.00434e-46	1	1	0
DOK6	220164	broad.mit.edu	37	18	67425043	67425043	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:67425043C>A	ENST00000382713.5	+	7	980	c.790C>A	c.(790-792)Cct>Act	p.P264T		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	264							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AATATCTCTTCCTCGCAGCGC	0.403000													32	44					1.36161e-19	1.88839e-19	1	1	0
FRY	10129	broad.mit.edu	37	13	32783177	32783177	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:32783177A>T	ENST00000380250.3	+	32	4702	c.4206A>T	c.(4204-4206)agA>agT	p.R1402S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACGGGCTGAGAGGAAATGGCT	0.582000													32	19					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47426517	47426517	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:47426517A>T	ENST00000377045.4	+	9	1054	c.860A>T	c.(859-861)gAc>gTc	p.D287V	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	287					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTGGCCGATGACAAGAAGAAA	0.627000													41	10					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671721	8671721	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:8671721G>T	ENST00000299665.2	+	4	542	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	117	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGGGATGGGGGCCCATCTGAT	0.483000													25	22					1.57351e-24	2.28487e-24	1	1	0
DRP2	1821	broad.mit.edu	37	X	100505950	100505950	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:100505950G>T	ENST00000395209.3	+	16	2270	c.1743G>T	c.(1741-1743)tgG>tgT	p.W581C	DRP2_ENST00000538510.1_Missense_Mutation_p.W581C|DRP2_ENST00000402866.1_Missense_Mutation_p.W581C|DRP2_ENST00000541709.1_Missense_Mutation_p.W503C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	581					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCCTGGAGTGGGTCAACCTGG	0.537000													119	25					2.30743e-64	3.98467e-64	1	1	0
CDH2	1000	broad.mit.edu	37	18	25583000	25583000	+	Silent	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:25583000A>C	ENST00000269141.3	-	7	1404	c.981T>G	c.(979-981)acT>acG	p.T327T	CDH2_ENST00000399380.3_Silent_p.T296T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	327	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGATGTCACCAGTCTCATTGT	0.433000													70	105					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764811	118764811	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:118764811C>A	ENST00000292174.4	+	2	734	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	186					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CAGAGATTCTCTTCGCCAAAG	0.592000													9	58					1.12685e-05	1.22114e-05	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36629653	36629653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:36629653C>A	ENST00000265113.4	+	3	759	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SLC1A3_ENST00000381918.3_Missense_Mutation_p.L95M	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	95					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)	GTTACAGATGCTGGTCTTACC	0.413000													123	89					8.82138e-58	1.52008e-57	1	1	0
HTRA4	203100	broad.mit.edu	37	8	38835529	38835529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:38835529G>T	ENST00000302495.4	+	4	929	c.829G>T	c.(829-831)Gtg>Ttg	p.V277L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	277	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TGGAGAGTTTGTGGTGGCTTT	0.527000													38	52					2.00842e-17	2.70597e-17	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196825490	196825490	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:196825490T>A	ENST00000312428.6	-	18	2485	c.2385A>T	c.(2383-2385)caA>caT	p.Q795H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	795	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTTCTACTTGGTCTGGAT	0.373000													15	128					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64915055	64915055	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:64915055G>T	ENST00000326648.3	+	2	905	c.777G>T	c.(775-777)gtG>gtT	p.V259V		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	259						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCAGCAGTGCTGCCAATAC	0.473000													113	55					3.19997e-73	5.57393e-73	1	1	0
XCR1	2829	broad.mit.edu	37	3	46062816	46062816	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:46062816G>T	ENST00000309285.3	-	2	980	c.624C>A	c.(622-624)atC>atA	p.I208I	XCR1_ENST00000542109.1_Silent_p.I208I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	208					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)		GGGTCCTGAGGATCTCCACGT	0.582000													8	25					1.06961e-07	1.22003e-07	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131211473	131211473	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:131211473G>A	ENST00000337057.3	-	11	1802	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	EPB41L2_ENST00000525193.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R541C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R541C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R541C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R541C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R541C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	541	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTAGAAGTGCGCTCAAAGTGT	0.483000													21	138					0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288290	36288290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:36288290G>T	ENST00000539424.1	+	2	1801	c.136G>T	c.(136-138)Gga>Tga	p.G46*	TBC1D3F_ENST00000378174.5_Nonsense_Mutation_p.G126*|TBC1D3F_ENST00000505415.1_Nonsense_Mutation_p.G126*|TBC1D3F_ENST00000327454.6_Nonsense_Mutation_p.G126*			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	126						intracellular	Rab GTPase activator activity	p.G126R(1)		liver(1)|pancreas(1)	2						GAAAAACCCCGGAAGATACCA	0.572000													44	681					8.86878e-18	1.20095e-17	1	1	0
RRM1	6240	broad.mit.edu	37	11	4142904	4142904	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:4142904A>C	ENST00000300738.5	+	10	1151	c.947A>C	c.(946-948)aAg>aCg	p.K316T	RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.K94T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.K219T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	316					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GATTTAAAGAAGAACACAGGA	0.413000													4	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397182	179397182	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:179397182C>G	ENST00000589042.1	-	358	104384	c.104160G>C	c.(104158-104160)gaG>gaC	p.E34720D	TTN_ENST00000591111.1_Missense_Mutation_p.E33079D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32152D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25655D|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25847D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25780D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33079							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)			TTCTTGTTTCCTCCACCTTGA	0.478000													13	56					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54405017	54405017	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:54405017A>T	ENST00000040584.4	+	2	818	c.581A>T	c.(580-582)aAg>aTg	p.K194M		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	194						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						AGACAAGTGAAGATCTGGTTC	0.463000													6	87					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242350541	242350541	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:242350541G>A	ENST00000264042.3	+	6	674	c.504G>A	c.(502-504)ctG>ctA	p.L168L	FARP2_ENST00000545004.1_Silent_p.L168L|FARP2_ENST00000373287.4_Silent_p.L168L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	168	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCCATCTCCTGCAGTGTGAGT	0.512000													5	13					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132306048	132306048	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:132306048T>A	ENST00000331898.7	-	6	1447	c.869A>T	c.(868-870)gAt>gTt	p.D290V	OPCML_ENST00000374778.4_Missense_Mutation_p.D249V|OPCML_ENST00000524381.1_Missense_Mutation_p.D283V|OPCML_ENST00000541867.1_Missense_Mutation_p.D290V|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	290	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTTCCCATAATCCTTTTCTGA	0.483000													17	79					0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217526631	217526631	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:217526631G>C	ENST00000233809.4	+	3	852	c.723G>C	c.(721-723)atG>atC	p.M241I	IGFBP2_ENST00000456764.1_Missense_Mutation_p.M97I	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	241	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		TCTCCACCATGCGCCTTCCGG	0.627000													22	23					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817562	38817562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:38817562G>T	ENST00000263372.3	+	2	759	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	218						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CATCGGCCTGGGCGACTACGT	0.627000													68	81					4.8811e-34	7.70044e-34	1	1	0
NOS2	4843	broad.mit.edu	37	17	26108164	26108164	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:26108164C>T	ENST00000313735.6	-	8	995	c.762G>A	c.(760-762)aaG>aaA	p.K254K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	254					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGAAGTCGTGCTTGCCATCAC	0.602000													21	155					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997745	19997745	+	Silent	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:19997745A>G	ENST00000391403.2	-	1	133	c.30T>C	c.(28-30)ttT>ttC	p.F10F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	10						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTCCCATGGAAAACCATAAG	0.483000													6	27					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402276	248402276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248402276G>T	ENST00000306687.1	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	16					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)			CATCCTGCTGGGAATCTTCAA	0.433000													53	73					8.81991e-31	1.3516e-30	1	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388824	39388824	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:39388824T>G	ENST00000411528.2	+	1	110	c.71T>G	c.(70-72)gTg>gGg	p.V24G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	24	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCACCACTGTGACCACCTGC	0.607000													27	95					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22901976	22901976	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:22901976C>A	ENST00000361524.3	-	3	364	c.216G>T	c.(214-216)ctG>ctT	p.L72L	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.L72L|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	72		Breakpoint for translocation to form PAX5-ZNF521.			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)					GTTTACCTGTCAGTTGACATT	0.368000			T	PAX5	ALL								32	59					3.76114e-14	4.86343e-14	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11579887	11579887	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:11579887T>A	ENST00000294484.6	+	9	2288	c.2150T>A	c.(2149-2151)cTg>cAg	p.L717Q	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L717Q	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	717					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGAGCTGCTGCACCACTGG	0.667000													53	24					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359606	125359606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:125359606G>C	ENST00000278919.3	-	2	302	c.68C>G	c.(67-69)cCg>cGg	p.P23R	FEZ1_ENST00000524435.1_Missense_Mutation_p.P23R|FEZ1_ENST00000366139.3_Missense_Mutation_p.P23R	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	23					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTTCTCCTCCGGGTCCTCCGA	0.537000													45	118					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391877	119391877	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:119391877G>C	ENST00000409003.4	-	4	513	c.385C>G	c.(385-387)Ctc>Gtc	p.L129V	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Missense_Mutation_p.L129V	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	129	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TGCTGCCGGAGGTTCTCCTGG	0.483000													79	43					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204242836	204242836	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:204242836C>A	ENST00000272203.3	-	3	336	c.20G>T	c.(19-21)gGg>gTg	p.G7V	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G7V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	7										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CGGGCGTTTCCCACCTGTTTT	0.527000													22	37					4.26978e-12	5.25864e-12	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102957160	102957160	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:102957160C>T	ENST00000311734.2	+	5	821	c.482C>T	c.(481-483)gCg>gTg	p.A161V	IL1RL1_ENST00000233954.1_Missense_Mutation_p.A161V|IL1RL1_ENST00000404917.2_Missense_Mutation_p.A44V|IL1RL1_ENST00000393393.3_Missense_Mutation_p.A161V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A161V			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	161	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGGTACAGGGCGCACAAGTCA	0.358000													16	94					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15425151	15425151	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:15425151A>T	ENST00000342526.3	-	10	1163	c.994T>A	c.(994-996)Tct>Act	p.S332T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	332					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AATAGCTGAGATGAAGATGAT	0.363000													9	65					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102825862	102825862	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:102825862T>G	ENST00000216756.6	-	2	110	c.70A>C	c.(70-72)Aag>Cag	p.K24Q	CINP_ENST00000541568.2_Missense_Mutation_p.K24Q|CINP_ENST00000536961.2_Missense_Mutation_p.K39Q	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	24					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						GCATTGTCCTTAATTTTTCTT	0.378000													3	106					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38213255	38213255	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:38213255C>A	ENST00000379705.3	-	10	2990	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	TRPC4_ENST00000379673.2_Missense_Mutation_p.R646S|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.R716S|TRPC4_ENST00000355779.2_Missense_Mutation_p.R711S|TRPC4_ENST00000358477.2_Missense_Mutation_p.R711S|TRPC4_ENST00000379679.1_Missense_Mutation_p.R538S|TRPC4_ENST00000447043.1_Missense_Mutation_p.R711S|TRPC4_ENST00000338947.5_Missense_Mutation_p.R538S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	711	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACCAGGTTCCTCATAACTT	0.393000													97	49					1.44639e-49	2.46069e-49	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248005092	248005092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248005092C>A	ENST00000355784.2	-	1	162	c.107G>T	c.(106-108)tGc>tTc	p.C36F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C36Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATGGTCAGGCAGTAGATGAG	0.498000													3	22					0.004672	0.00485332	1	1	0
CD200R1L	344807	broad.mit.edu	37	3	112546461	112546461	+	Silent	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:112546461A>G	ENST00000488794.1	-	5	709	c.120T>C	c.(118-120)aaT>aaC	p.N40N	CD200R1L_ENST00000448932.1_Silent_p.N40N|CD200R1L_ENST00000398214.1_Silent_p.N61N			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	61						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTATGATCAAATTTCTTAATG	0.398000													39	37					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132394479	132394479	+	Silent	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:132394479C>G	ENST00000321867.4	+	10	1092	c.741C>G	c.(739-741)acC>acG	p.T247T		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	247	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCGGGAGACCTCGGCCCCGC	0.711000													7	22					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313682	162313682	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:162313682C>T	ENST00000361897.5	+	6	913	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	NOS1AP_ENST00000530878.1_Silent_p.L166L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	171	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCCACAAGCTGAGCCTGCA	0.582000													54	65					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314524	46314524	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:46314524C>T	ENST00000510861.1	-	5	638	c.465G>A	c.(463-465)ctG>ctA	p.L155L	GABRA2_ENST00000507069.1_Silent_p.L155L|GABRA2_ENST00000356504.1_Silent_p.L155L|GABRA2_ENST00000515082.1_Silent_p.L155L|GABRA2_ENST00000381620.4_Silent_p.L155L|GABRA2_ENST00000514090.1_Silent_p.L155L|GABRA2_ENST00000540012.1_Silent_p.L100L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	155					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATGGTATACAGCAGAGTCC	0.348000													10	77					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753830	38753830	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:38753830G>T	ENST00000449082.2	-	22	3910	c.3911C>A	c.(3910-3912)gCa>gAa	p.A1304E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1304					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAACTTCCCTGCGAAGAGGTT	0.493000													22	89					1.42536e-11	1.7421e-11	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42840416	42840416	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:42840416A>T	ENST00000432191.2	+	12	1373	c.1301A>T	c.(1300-1302)cAg>cTg	p.Q434L	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.Q458L|PPHLN1_ENST00000256678.8_Missense_Mutation_p.Q363L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	458					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		gaaaacaagcagtaactgcta	0.388000													3	51					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589421	169589421	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:169589421T>A	ENST00000261509.6	+	3	1200	c.989T>A	c.(988-990)aTc>aAc	p.I330N	PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.I207N|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.I330N	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	330	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CATACCCTGATCATAGCAGAG	0.517000									Pancreatic Cancer, Familial Clustering of				35	37					0	0	1	0	0
TRAV22	28661	broad.mit.edu	37	14	22539335	22539335	+	RNA	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:22539335C>G	ENST00000390450.3	+	0	328																											AGCTCATCAACCTGTTTTACA	0.473000													29	52					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71698943	71698943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:71698943T>A	ENST00000254799.6	-	3	679	c.562A>T	c.(562-564)Aga>Tga	p.R188*	GRSF1_ENST00000439371.1_Nonsense_Mutation_p.R26*|GRSF1_ENST00000545193.1_Nonsense_Mutation_p.R70*|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Nonsense_Mutation_p.R26*	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	188	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TTCCCATCTCTGTTTAGGAGA	0.428000													20	18					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372237	126372237	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:126372237T>C	ENST00000394329.3	+	9	10079	c.10066T>C	c.(10066-10068)Tat>Cat	p.Y3356H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y1654H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3356	Cadherin 32.				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						TGGACAGATTTATGTTTCTGG	0.408000													34	35					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160323020	160323020	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:160323020G>A	ENST00000368063.1	+	11	1392	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	NCSTN_ENST00000392212.4_Missense_Mutation_p.R371Q|NCSTN_ENST00000368065.4_Missense_Mutation_p.R133Q|NCSTN_ENST00000294785.5_Missense_Mutation_p.R391Q|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Missense_Mutation_p.R253Q			Q92542	NICA_HUMAN	nicastrin	391					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCTGTACGGAACCAGGTA	0.507000													4	46					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134515	128134515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:128134515G>T	ENST00000368250.1	-	5	1532	c.1034C>A	c.(1033-1035)gCg>gAg	p.A345E	THEMIS_ENST00000543064.1_Missense_Mutation_p.A424E|THEMIS_ENST00000537166.1_Missense_Mutation_p.A389E|THEMIS_ENST00000368248.2_Missense_Mutation_p.A424E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	424	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGAGCAGCGCAGCCTCATA	0.448000													6	47					5.18039e-06	5.65198e-06	1	1	0
MED13	9969	broad.mit.edu	37	17	60106911	60106911	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:60106911C>A	ENST00000397786.2	-	8	1350	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	425					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTCAAACAACTGCAATTTGT	0.418000													10	55					3.27435e-08	3.79409e-08	1	1	0
THEMIS	387357	broad.mit.edu	37	6	128135074	128135074	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:128135074G>T	ENST00000368250.1	-	5	973	c.475C>A	c.(475-477)Cga>Aga	p.R159R	THEMIS_ENST00000543064.1_Silent_p.R238R|THEMIS_ENST00000537166.1_Silent_p.R203R|THEMIS_ENST00000368248.2_Silent_p.R238R			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	238	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATATCTTTTCGAACTAAAAAG	0.333000													7	31					0.00448238	0.00468666	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153131205	153131205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:153131205C>A	ENST00000370060.1	-	20	2690	c.2501G>T	c.(2500-2502)cGg>cTg	p.R834L	L1CAM_ENST00000361981.3_Missense_Mutation_p.R829L|L1CAM_ENST00000543994.1_Missense_Mutation_p.R836L|L1CAM_ENST00000538883.1_Missense_Mutation_p.R836L|L1CAM_ENST00000370055.1_Missense_Mutation_p.R829L|L1CAM_ENST00000370057.3_Missense_Mutation_p.R834L|L1CAM_ENST00000361699.4_Missense_Mutation_p.R834L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	834	Fibronectin type-III 3.				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)					GTCCACCGGCCGCCACTTGAC	0.587000													146	19					4.72421e-73	8.21112e-73	1	1	0
ASB10	136371	broad.mit.edu	37	7	150878409	150878409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:150878409G>T	ENST00000422024.1	-	3	981	c.856C>A	c.(856-858)Cct>Act	p.P286T	ASB10_ENST00000377867.3_Missense_Mutation_p.P226T|ASB10_ENST00000275838.1_Missense_Mutation_p.P241T|ASB10_ENST00000420175.2_Missense_Mutation_p.P241T|ASB10_ENST00000434669.1_Missense_Mutation_p.P286T	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	241					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCATCAGGACATGCCCCC	0.657000													23	31					1.04121e-07	1.19102e-07	1	1	0
DST	667	broad.mit.edu	37	6	56391314	56391314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:56391314C>A	ENST00000370754.5	-	69	17880	c.17881G>T	c.(17881-17883)Gaa>Taa	p.E5961*	DST_ENST00000446842.2_Nonsense_Mutation_p.E5457*|DST_ENST00000370769.4_Nonsense_Mutation_p.E5783*|DST_ENST00000370788.2_Nonsense_Mutation_p.E3586*|DST_ENST00000361203.3_Nonsense_Mutation_p.E5672*|DST_ENST00000244364.6_Nonsense_Mutation_p.E3369*|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.E3695*			Q03001	DYST_HUMAN	dystonin	5781					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)			CTGCTCACTTCATTAAGGGAG	0.428000													35	73					1.02591e-13	1.31808e-13	1	1	0
POU2F2	5452	broad.mit.edu	37	19	42596240	42596240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:42596240C>A	ENST00000389341.5	-	13	1399	c.1333G>T	c.(1333-1335)Ggc>Tgc	p.G445C	POU2F2_ENST00000342301.4_Missense_Mutation_p.G461C|POU2F2_ENST00000529952.1_Missense_Mutation_p.G461C|POU2F2_ENST00000533720.1_Missense_Mutation_p.G445C|POU2F2_ENST00000560558.1_Missense_Mutation_p.G406C|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q399H|POU2F2_ENST00000560398.1_Missense_Mutation_p.G467C|POU2F2_ENST00000526816.2_Missense_Mutation_p.G461C	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	461					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGGTTCAGGCCTGACAAGCCG	0.647000													4	13					0.000602214	0.000635451	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402275	248402275	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248402275G>T	ENST00000306687.1	+	1	45	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	15					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)			TCATCCTGCTGGGAATCTTCA	0.433000													53	74					3.36121e-32	5.2206e-32	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4848337	4848337	+	Missense_Mutation	SNP	G	G	A	rs143866477	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:4848337G>A	ENST00000252318.2	+	3	855	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	173						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGATGTCTTCGGAAGACATAT	0.358000													28	47					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857295	101857295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:101857295G>T	ENST00000604957.1	+	1	2848	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E76*|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E76*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E76*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E76*|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E76*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	76							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTGACAAGGGAAGTGATCAA	0.473000													34	9					1.45844e-13	1.8708e-13	1	1	0
SETMAR	6419	broad.mit.edu	37	3	4354588	4354588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:4354588C>A	ENST00000358065.4	+	2	230	c.163C>A	c.(163-165)Cct>Act	p.P55T	SETMAR_ENST00000430981.1_Missense_Mutation_p.P55T|SETMAR_ENST00000425863.1_Missense_Mutation_p.P55T|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000462115.1_3'UTR	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	42	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ACAGTACACTCCTGATCATGT	0.433000								Chromatin Structure					60	70					2.47556e-37	3.99975e-37	1	1	0
MYLK3	91807	broad.mit.edu	37	16	46764530	46764530	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:46764530C>T	ENST00000394809.4	-	5	1658	c.1543G>A	c.(1543-1545)Gtg>Atg	p.V515M	MYLK3_ENST00000536476.1_Missense_Mutation_p.V174M	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	515	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCTGGCACACCTCGTAACCC	0.607000													39	80					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78870953	78870953	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:78870953G>T	ENST00000315567.8	+	8	1109	c.780G>T	c.(778-780)ttG>ttT	p.L260F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	260							RNA binding	p.L260F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TCTTTCAGTTGGATATGTCAA	0.333000													42	30					2.65591e-33	4.1573e-33	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31038947	31038947	+	Missense_Mutation	SNP	C	C	G	rs142398595	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:31038947C>G	ENST00000355537.3	+	4	2568	c.2421C>G	c.(2419-2421)aaC>aaG	p.N807K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	807					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)					AGCGGCAGAACGGGGCTGGGC	0.562000													38	65					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077680	74077680	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:74077680G>A	ENST00000334586.5	+	7	807	c.724G>A	c.(724-726)Gag>Aag	p.E242K	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	242	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGTGCCTGCAGAGGCACTGCT	0.617000													26	185					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138759	64138759	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:64138759T>C	ENST00000528057.1	+	17	2193	c.2105T>C	c.(2104-2106)tTc>tCc	p.F702S	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.F461S|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.F709S	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	709					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						TGCCAGGCATTCAACCGGGGC	0.657000													22	142					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225084	158225084	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:158225084G>C	ENST00000289429.5	+	2	802	c.269G>C	c.(268-270)cGc>cCc	p.R90P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	90	Glycolipid binding.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCCGTATACGCACCATTCGG	0.488000													14	28					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32838716	32838716	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:32838716G>T	ENST00000534972.1	-	0	502				BPIFC_ENST00000397452.1_Silent_p.L199L|BPIFC_ENST00000432451.2_Silent_p.L13L|BPIFC_ENST00000300399.3_Silent_p.L199L			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TAATGGGACAGAGCTGGCCAC	0.448000													16	6					5.35267e-07	5.96971e-07	1	1	0
C5orf42	65250	broad.mit.edu	37	5	37167229	37167229	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:37167229T>G	ENST00000274258.7	-	35	7547	c.3960A>C	c.(3958-3960)caA>caC	p.Q1320H	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q2440H|C5orf42_ENST00000508244.1_Missense_Mutation_p.Q2440H			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2440										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAGCATCACCTTGTTCAAATA	0.348000													9	53					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431376	56431376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:56431376G>T	ENST00000302969.2	+	1	239	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G72A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GTTGACCTGGGCTACTCCTCA	0.458000													57	214					5.45122e-27	8.07626e-27	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85441216	85441216	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:85441216G>T	ENST00000393217.2	+	6	707	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	216	Glu-rich.									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)		ACAATTTAAAGTTGAAAAGAA	0.303000													36	20					2.24722e-20	3.14376e-20	1	1	0
PRND	23627	broad.mit.edu	37	20	4705390	4705390	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:4705390A>T	ENST00000305817.2	+	2	264	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	65	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCAAGGCCGCAAGCTCGACAT	0.602000													8	28					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263879	120263879	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:120263879G>T	ENST00000369407.3	+	1	1630	c.123G>T	c.(121-123)agG>agT	p.R41S	PHGDH_ENST00000369409.4_Missense_Mutation_p.R75S			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	75					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGGTGGGCAGGGCTGGCACAG	0.552000													28	91					3.93418e-24	5.69216e-24	1	1	0
FAP	2191	broad.mit.edu	37	2	163074612	163074612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:163074612G>T	ENST00000188790.4	-	9	853	c.646C>A	c.(646-648)Cct>Act	p.P216T	FAP_ENST00000443424.1_Missense_Mutation_p.P191T	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	216					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTCCATTAGGAGACCACCAG	0.308000													14	55					0.0496948	0.0504487	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31926460	31926460	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:31926460A>T	ENST00000300870.10	+	4	1099	c.890A>T	c.(889-891)tAt>tTt	p.Y297F	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	297					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCATATAGCTATAACAAATAT	0.313000													23	30					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648319	112648319	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:112648319C>A	ENST00000471858.1	-	3	401	c.169G>T	c.(169-171)Gct>Tct	p.A57S	CD200R1_ENST00000490004.1_Missense_Mutation_p.A57S|CD200R1_ENST00000440122.2_Missense_Mutation_p.A80S|CD200R1_ENST00000308611.3_Missense_Mutation_p.A80S|CD200R1_ENST00000295863.4_Missense_Mutation_p.A35S	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	57	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CAAAGCACAGCATTTGTAGCC	0.378000													29	37					3.33393e-15	4.35309e-15	1	1	0
TICAM2	353376	broad.mit.edu	37	5	114916522	114916522	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:114916522T>A	ENST00000408996.4	-	4	1325	c.939A>T	c.(937-939)ttA>ttT	p.L313F	TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.L313F|TICAM2_ENST00000427199.2_Missense_Mutation_p.L144F	NM_001164468.2|NM_001164469.2	NP_001157940.1|NP_001157941.1			toll-like receptor adaptor molecule 2											cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		AAGTATCTCTTAAAAAGTTTT	0.403000													29	16					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038946	31038946	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:31038946A>G	ENST00000355537.3	+	4	2567	c.2420A>G	c.(2419-2421)aAc>aGc	p.N807S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	807					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)					GAGCGGCAGAACGGGGCTGGG	0.562000													38	64					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37147401	37147401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:37147401C>G	ENST00000588268.1	-	4	408	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	ZNF461_ENST00000360357.4_Missense_Mutation_p.G61R	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCTCCTTCCCTTGCTCCAAT	0.478000													14	79					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61907257	61907257	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:61907257C>T	ENST00000310144.6	+	4	520	c.212C>T	c.(211-213)tCc>tTc	p.S71F	PSMC5_ENST00000375812.4_Missense_Mutation_p.S63F|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Missense_Mutation_p.S63F|PSMC5_ENST00000580864.1_Missense_Mutation_p.S63F	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	71					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GAGCAGGGCTCCTATGTGGGG	0.552000													32	57					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531515	92531515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:92531515G>T	ENST00000298047.6	+	9	5353	c.5336G>T	c.(5335-5337)aGt>aTt	p.S1779I	FAT3_ENST00000409404.2_Missense_Mutation_p.S1779I|FAT3_ENST00000525166.1_Missense_Mutation_p.S1629I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1779	Cadherin 16.				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)				GGCAGCCTAAGTGAGGCTGCC	0.458000										TCGA Ovarian(4;0.039)			6	5					0.0293803	0.0299777	1	1	0
PSMB7	5695	broad.mit.edu	37	9	127167675	127167675	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:127167675C>A	ENST00000259457.3	-	5	445	c.432G>T	c.(430-432)ggG>ggT	p.G144G	PSMB7_ENST00000498485.1_Intron|PSMB7_ENST00000536392.1_Intron	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	144					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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CATCTACTCCCCCTAAAACTA	0.433000													22	30					2.14196e-07	2.42936e-07	1	1	0
MIOS	54468	broad.mit.edu	37	7	7622959	7622959	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:7622959G>T	ENST00000340080.4	+	6	2025	c.1604G>T	c.(1603-1605)cGc>cTc	p.R535L	MIOS_ENST00000461907.2_3'UTR|MIOS_ENST00000405785.1_Missense_Mutation_p.R535L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	535										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						TTGGATATTCGCCGAGCAATC	0.413000													25	12					8.58068e-18	1.1639e-17	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576465	33576465	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:33576465G>T	ENST00000504830.1	-	19	4001	c.3666C>A	c.(3664-3666)ccC>ccA	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				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						GCCTTTGGCTGGGGAGCAGTC	0.557000										HNSCC(64;0.19)			45	38					4.75955e-12	5.85286e-12	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32598187	32598187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:32598187T>C	ENST00000286827.3	-	8	2135	c.1664A>G	c.(1663-1665)cAc>cGc	p.H555R	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.H555R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	555					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCTTCCTTGTGGTGGTGCCT	0.517000													42	15					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25428047	25428047	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:25428047C>T	ENST00000255324.5	+	25	3427	c.3375C>T	c.(3373-3375)ccC>ccT	p.P1125P	RNF17_ENST00000381921.1_Silent_p.P1125P|RNF17_ENST00000339524.3_Silent_p.P177P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1125					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAAGTCCCCCTGGAACAGG	0.338000													19	14					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62131640	62131640	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:62131640G>A	ENST00000433197.2	-	15	2018	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	641	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAGCTCGATGGCAATGTACT	0.488000													25	19					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197009688	197009688	+	Missense_Mutation	SNP	C	C	A	rs140531979	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:197009688C>A	ENST00000367412.1	-	11	1959	c.1916G>T	c.(1915-1917)gGg>gTg	p.G639V	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	639	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTTAACTGCCCTCTGTCACA	0.299000													37	47					1.51926e-22	2.15541e-22	1	1	0
TEC	7006	broad.mit.edu	37	4	48139453	48139453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:48139453C>A	ENST00000381501.3	-	18	2033	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	626					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						AAAGTTTCTTCACATTCAACT	0.428000													5	51					0.217242	0.218878	1	1	0
CASK	8573	broad.mit.edu	37	X	41390395	41390395	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:41390395T>G	ENST00000318588.9	-	25	2415	c.2370A>C	c.(2368-2370)caA>caC	p.Q790H	CASK_ENST00000378163.1_Missense_Mutation_p.Q795H|CASK_ENST00000361962.4_Missense_Mutation_p.Q778H|CASK_ENST00000442742.2_Missense_Mutation_p.Q767H|CASK_ENST00000421587.2_Missense_Mutation_p.Q766H|CASK_ENST00000378166.4_Missense_Mutation_p.Q790H|CASK_ENST00000378158.1_Missense_Mutation_p.Q778H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	795	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTTGCATCATTTGGTCATGAG	0.438000													9	83					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71497436	71497436	+	Missense_Mutation	SNP	G	G	A	rs144576854	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:71497436G>A	ENST00000396073.3	+	3	385	c.104G>A	c.(103-105)gGt>gAt	p.G35D		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	35					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGGCTTCTTGGTAATTCTGTT	0.338000													49	63					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22970582	22970582	+	Silent	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:22970582G>C	ENST00000374639.3	+	2	184	c.66G>C	c.(64-66)ctG>ctC	p.L22L	C1QC_ENST00000374640.4_Silent_p.L22L|C1QC_ENST00000374637.1_Silent_p.L22L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	22					complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	tgctgctgctgcCCCTCAGGG	0.692000													9	5					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622156	234622156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:234622156G>T	ENST00000373414.3	+	1	519	c.519G>T	c.(517-519)ttG>ttT	p.L173F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGTTTTTCTTGAGGAACATTC	0.463000													23	86					2.4375e-19	3.36308e-19	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40129047	40129047	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:40129047C>T	ENST00000235628.1	-	4	492	c.493G>A	c.(493-495)Gcc>Acc	p.A165T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	165					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTGATAGGCCTTGAGGTAG	0.527000													14	72					0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419514	72419514	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:72419514A>C	ENST00000454765.2	+	2	787	c.314A>C	c.(313-315)gAg>gCg	p.E105A	TMEM171_ENST00000287773.5_Missense_Mutation_p.E105A			Q8WVE6	TM171_HUMAN	transmembrane protein 171	105						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCTGTGGAGAGAGCCGCCAG	0.617000													4	74					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48139455	48139455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:48139455C>A	ENST00000381501.3	-	18	2031	c.1874G>T	c.(1873-1875)tGt>tTt	p.C625F		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	625					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						AGTTTCTTCACATTCAACTAG	0.423000													5	54					0.217242	0.218878	1	1	0
DHPS	1725	broad.mit.edu	37	19	12788168	12788168	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:12788168G>A	ENST00000210060.7	-	6	856	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	DHPS_ENST00000351660.5_Silent_p.L241L|DHPS_ENST00000594424.1_Silent_p.L199L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	241					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	ATGTCGCCCAGCGAGCCGTCT	0.587000													13	16					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912498	29912498	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:29912498T>C	ENST00000308748.5	+	1	458	c.206T>C	c.(205-207)cTc>cCc	p.L69P	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	69					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTGATCATGCTCCCGTGGCCA	0.687000													4	23					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109477009	109477009	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:109477009G>C	ENST00000521277.1	+	8	1150	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	CEP57L1_ENST00000519095.1_Missense_Mutation_p.E225Q|CEP57L1_ENST00000336977.4_Missense_Mutation_p.E149Q|CEP57L1_ENST00000368968.2_Missense_Mutation_p.E225Q|CEP57L1_ENST00000517392.1_Missense_Mutation_p.E225Q|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000523787.1_Missense_Mutation_p.E228Q|CEP57L1_ENST00000359793.3_Missense_Mutation_p.E225Q|CEP57L1_ENST00000407272.1_Missense_Mutation_p.E225Q|CEP57L1_ENST00000520883.1_Missense_Mutation_p.E149Q|CEP57L1_ENST00000368970.2_Missense_Mutation_p.E225Q			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	225						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AACTGGACTTGAAATCAGTAA	0.274000													5	9					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84403638	84403638	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:84403638C>A	ENST00000260505.8	-	8	1162	c.785G>T	c.(784-786)cGg>cTg	p.R262L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	262	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGTTTCATCCCGTTCAAAATG	0.383000													35	49					5.04308e-16	6.6825e-16	1	1	0
ECEL1	9427	broad.mit.edu	37	2	233348785	233348785	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:233348785C>T	ENST00000304546.1	-	7	1543	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	ECEL1_ENST00000409941.1_Missense_Mutation_p.A445T	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	445					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGCGATTGGCCTGGCCCAAG	0.617000													14	47					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93022234	93022234	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:93022234G>A	ENST00000216487.7	+	2	342	c.183G>A	c.(181-183)ccG>ccA	p.P61P		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	61					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAACATGCCCGGTGTGGCTGC	0.627000													3	92					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330243	36330243	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:36330243C>G	ENST00000378910.5	-	22	3004	c.3005G>C	c.(3004-3006)gGt>gCt	p.G1002A	NPHS1_ENST00000353632.6_Missense_Mutation_p.G1002A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1002	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			AGGCTGTAGACCAGTCAGCGT	0.577000													14	107					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430125	76430125	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:76430125C>A	ENST00000388942.3	+	3	392	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	39						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCATTGCTCCTGTGCAGCTG	0.527000													61	23					3.30712e-30	5.02007e-30	1	1	0
BACH2	60468	broad.mit.edu	37	6	90642274	90642274	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:90642274C>A	ENST00000257749.4	-	9	3086	c.2379G>T	c.(2377-2379)ggG>ggT	p.G793G	BACH2_ENST00000343122.3_Silent_p.G793G|BACH2_ENST00000537989.1_Silent_p.G793G	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	793						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTAGTCTCCTCCCAGAGGTAC	0.622000													23	101					1.64293e-13	2.10411e-13	1	1	0
GALNT6	11226	broad.mit.edu	37	12	51773454	51773454	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:51773454T>A	ENST00000543196.2	-	2	317	c.112A>T	c.(112-114)Aca>Tca	p.T38S	GALNT6_ENST00000356317.3_Missense_Mutation_p.T38S			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	38					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTTCTCTGTGGCCTCCTCT	0.602000													7	77					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90537955	90537955	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:90537955C>A	ENST00000404459.1	+	9	1153	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	385					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGCCCCTCAACGGATGTACAG	0.403000													4	14					0.014758	0.0151932	1	1	0
MSH4	4438	broad.mit.edu	37	1	76356489	76356489	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:76356489G>A	ENST00000263187.3	+	17	2439	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	779					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGCTGTTTGTGAATATCTACT	0.299000								Mismatch excision repair (MMR)					12	49					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959877	86959877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:86959877C>A	ENST00000234701.3	+	12	2039	c.1688C>A	c.(1687-1689)aCt>aAt	p.T563N	CLCA1_ENST00000394711.1_Missense_Mutation_p.T563N			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	563					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAGGTTGGCACTTGGAAATAC	0.458000													8	35					5.18039e-06	5.65198e-06	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269325	30269325	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:30269325G>T	ENST00000378981.3	+	4	1036	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	MAGEB1_ENST00000397548.2_Missense_Mutation_p.G239W|MAGEB1_ENST00000397550.1_Missense_Mutation_p.G239W	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	239	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTTAATCTATGGGGAACCCCG	0.483000													12	22					1.52009e-12	1.89834e-12	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3016326	3016326	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:3016326C>A	ENST00000216877.6	+	20	2389	c.1989C>A	c.(1987-1989)acC>acA	p.T663T	PTPRA_ENST00000425918.2_Silent_p.T683T|PTPRA_ENST00000318266.5_Silent_p.T663T|PTPRA_ENST00000399903.2_Silent_p.T672T|PTPRA_ENST00000356147.3_Silent_p.T663T|PTPRA_ENST00000380393.3_Silent_p.T672T|PTPRA_ENST00000358719.4_Silent_p.T528T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	672	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGAGCTACACCGTCCGAGACC	0.552000													3	47					1	1	1	1	0
ZFYVE1	53349	broad.mit.edu	37	14	73437645	73437645	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:73437645C>A	ENST00000556143.1	-	12	2999	c.2279G>T	c.(2278-2280)tGg>tTg	p.W760L	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.W760L|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.W345L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.W746L|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.W345L	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	760						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGATGGTCCCAGCCACGAGA	0.582000													46	20					1.54043e-34	2.43978e-34	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54759300	54759300	+	Silent	SNP	A	A	T	rs141392964		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:54759300A>T	ENST00000450632.1	-	5	851	c.774T>A	c.(772-774)tcT>tcA	p.S258S	LILRB5_ENST00000345866.6_Silent_p.S167S|LILRB5_ENST00000449561.2_Silent_p.S267S|LILRB5_ENST00000316219.5_Silent_p.S267S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	267	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGCTGGCCAGAGCCCTGGA	0.642000													29	19					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132221	42132221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:42132221C>A	ENST00000221954.2	-	2	288	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	CEACAM4_ENST00000600925.1_Nonsense_Mutation_p.E60*	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	60	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TGAATAGTTTCTGAAATATTG	0.498000													27	100					3.67414e-24	5.32551e-24	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46314560	46314560	+	Silent	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:46314560A>G	ENST00000510861.1	-	5	602	c.429T>C	c.(427-429)aaT>aaC	p.N143N	GABRA2_ENST00000507069.1_Silent_p.N143N|GABRA2_ENST00000356504.1_Silent_p.N143N|GABRA2_ENST00000515082.1_Silent_p.N143N|GABRA2_ENST00000381620.4_Silent_p.N143N|GABRA2_ENST00000514090.1_Silent_p.N143N|GABRA2_ENST00000540012.1_Silent_p.N88N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	143					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGCAACTTATTTGGCATTG	0.343000													20	86					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:133790610C>A	ENST00000321016.8	-	18	3240	c.3010G>T	c.(3010-3012)Gag>Tag	p.E1004*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.E1004*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677000													29	37					1.30897e-18	1.79369e-18	1	1	0
ADAP2	55803	broad.mit.edu	37	17	29281514	29281514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:29281514A>T	ENST00000330889.3	+	9	1158	c.823A>T	c.(823-825)Aaa>Taa	p.K275*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.K281*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	275	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTCAAGAAAAGGTGGTT	0.537000													35	192					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275247	114275247	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:114275247C>A	ENST00000357077.4	+	38	5526	c.5473C>A	c.(5473-5475)Cct>Act	p.P1825T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1792T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1792	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCTCCCTCCCCTAAAACAGA	0.512000													23	39					4.72057e-08	5.43848e-08	1	1	0
FHL5	9457	broad.mit.edu	37	6	97051597	97051597	+	Silent	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:97051597A>T	ENST00000326771.2	+	3	488	c.108A>T	c.(106-108)gtA>gtT	p.V36V	FHL5_ENST00000541107.1_Silent_p.V36V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	36						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGATCGTGTATTTTCTAACT	0.363000													48	48					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274474	114274474	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:114274474G>T	ENST00000357077.4	+	38	4753	c.4700G>T	c.(4699-4701)aGa>aTa	p.R1567I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1534I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1534					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAATCCTGAGAAGTGGAACC	0.453000													7	44					2.17888e-05	2.34851e-05	1	1	0
ACOXL	55289	broad.mit.edu	37	2	111542308	111542308	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:111542308G>T	ENST00000389811.4	+	3	299		c.e3-1		ACOXL_ENST00000340561.4_Splice_Site|ACOXL_ENST00000439055.1_Splice_Site			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CATATTTTCAGGCAGAGAAAA	0.403000													21	25					2.21704e-12	2.74734e-12	1	1	0
RTTN	25914	broad.mit.edu	37	18	67733105	67733105	+	Silent	SNP	T	T	A	rs143709749	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:67733105T>A	ENST00000255674.6	-	35	4993	c.4707A>T	c.(4705-4707)acA>acT	p.T1569T	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.T1569T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1569							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGGTAGAAGTGTTGTTGACT	0.393000													42	71					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795398	101795398	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:101795398G>T	ENST00000506729.1	-	5	1154	c.983C>A	c.(982-984)aCa>aAa	p.T328K	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.T266K|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T328K|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	328						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGTATTAATGTACACCATGC	0.348000													7	103					3.86212e-05	4.14056e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82779354	82779354	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:82779354A>G	ENST00000265077.3	+	2	582	c.17A>G	c.(16-18)aAg>aGg	p.K6R	VCAN_ENST00000343200.5_Missense_Mutation_p.K6R|VCAN_ENST00000342785.4_Missense_Mutation_p.K6R|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.K6R|VCAN_ENST00000513984.1_Missense_Mutation_p.K6R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	6					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATAAATATAAAGAGCATCTTA	0.328000													20	27					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913458	23913458	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:23913458T>C	ENST00000382298.3	-	10	5145	c.4557A>G	c.(4555-4557)ggA>ggG	p.G1519G	SACS_ENST00000402364.1_Silent_p.G769G|SACS_ENST00000382292.3_Silent_p.G1519G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1519					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACAAAGCAGGTCCATGACAAG	0.383000													20	11					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121258345	121258345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:121258345C>A	ENST00000264233.5	-	4	694	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	189	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCAATTGTGCAGACTGCAAT	0.378000								DNA polymerases (catalytic subunits)					22	35					1.77063e-15	2.33468e-15	1	1	0
BCR	613	broad.mit.edu	37	22	23632590	23632590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:23632590G>T	ENST00000305877.8	+	14	3523	c.2772G>T	c.(2770-2772)aaG>aaT	p.K924N	BCR_ENST00000359540.3_Missense_Mutation_p.K924N	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	924	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGGATTTAAGCAGAGTTCAA	0.552000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	110	40					8.84652e-70	1.53429e-69	1	1	0
CRADD	8738	broad.mit.edu	37	12	94072793	94072793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:94072793G>T	ENST00000542893.2	+	2	561	c.243G>T	c.(241-243)tgG>tgT	p.W81C	CRADD_ENST00000332896.3_Missense_Mutation_p.W81C|CRADD_ENST00000548483.1_Missense_Mutation_p.W81C|CRADD_ENST00000552033.1_Missense_Mutation_p.W81C|CRADD_ENST00000541813.1_Missense_Mutation_p.W81C|CRADD_ENST00000552983.1_Missense_Mutation_p.W81C			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	81	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AGTTTCCCTGGGTCAGGGAGA	0.517000													11	78					4.3838e-07	4.89596e-07	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762621	53762621	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:53762621C>A	ENST00000341702.3	+	1	1077	c.993C>A	c.(991-993)tcC>tcA	p.S331S	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACGCCCTTTCCTTCATCACCT	0.448000													33	118					9.85521e-28	1.46822e-27	1	1	0
FCGR1A	2209	broad.mit.edu	37	1	149761619	149761619	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:149761619C>A	ENST00000369168.4	+	5	623	c.569C>A	c.(568-570)cCa>cAa	p.P190Q	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	190	Ig-like C2-type 3.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGCTATTTCCAGCTCCAGTG	0.507000													7	69					3.09899e-07	3.49506e-07	1	1	0
ACKR3	57007	broad.mit.edu	37	2	237489673	237489673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:237489673G>T	ENST00000272928.3	+	2	875	c.565G>T	c.(565-567)Gcg>Tcg	p.A189S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CGTCACGTCTGCGTCCAACAA	0.582000													27	61					3.1745e-13	4.03342e-13	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14843023	14843023	+	Splice_Site	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:14843023C>G	ENST00000358984.4	+	33	2932	c.2751_splice	c.e33-1	p.P918_splice		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1003										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289000													3	12					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93111899	93111899	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:93111899C>A	ENST00000395965.3	-	10	1216	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	FAM172A_ENST00000505869.1_Missense_Mutation_p.E248D|FAM172A_ENST00000509163.1_Missense_Mutation_p.E312D|FAM172A_ENST00000509739.1_Missense_Mutation_p.E211D	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	358						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GTAGCATGGACTCCACTGATG	0.388000													38	112					1.86633e-21	2.62463e-21	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65386109	65386109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:65386109G>T	ENST00000355703.3	+	6	1815	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	426	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGACACTAGTGAGGGCAGTGA	0.622000													4	29					0.0215528	0.0221033	1	1	0
CLIP3	25999	broad.mit.edu	37	19	36517903	36517903	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:36517903G>A	ENST00000360535.4	-	4	578	c.351C>T	c.(349-351)acC>acT	p.T117T	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.T117T	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	117					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGTCATGTCGGTCAGCCCGT	0.632000													8	55					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13991269	13991269	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:13991269C>T	ENST00000397555.2	+	3	474	c.474C>T	c.(472-474)gcC>gcT	p.A158A	NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000339133.5_Silent_p.A177A	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	158					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCAGAGGTGCCGGGAAGTCTG	0.627000											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	17					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71698942	71698942	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:71698942C>A	ENST00000254799.6	-	3	680	c.563G>T	c.(562-564)aGa>aTa	p.R188I	GRSF1_ENST00000439371.1_Missense_Mutation_p.R26I|GRSF1_ENST00000545193.1_Missense_Mutation_p.R70I|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R26I	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	188	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TTTCCCATCTCTGTTTAGGAG	0.428000													21	18					2.89027e-11	3.51117e-11	1	1	0
COPS7A	50813	broad.mit.edu	37	12	6839592	6839592	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:6839592G>T	ENST00000543155.1	+	6	1037	c.555G>T	c.(553-555)ctG>ctT	p.L185L	COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Silent_p.L185L|COPS7A_ENST00000534877.1_Silent_p.L185L|COPS7A_ENST00000538410.1_Silent_p.L185L|COPS7A_ENST00000229251.3_Silent_p.L185L|COPS7A_ENST00000534947.1_Silent_p.L185L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	185					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AGGTCGTGCTGTCAGGCATTG	0.567000													8	159					0.00829132	0.00859088	1	1	0
SH3BP2	6452	broad.mit.edu	37	4	2835449	2835449	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:2835449A>T	ENST00000356331.5	+	13	1835	c.1574A>T	c.(1573-1575)gAg>gTg	p.E525V	SH3BP2_ENST00000503393.2_Missense_Mutation_p.E582V|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E525V|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E525V|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E525V|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E553V	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	525	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGGAGGGCGAGGTCCTGTTT	0.642000									Cherubism				8	6					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481429	40481429	+	Splice_Site	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:40481429T>C	ENST00000264657.5	-	14	1592	c.1281_splice	c.e14+1	p.D427_splice	STAT3_ENST00000404395.3_Splice_Site_p.D427_splice|STAT3_ENST00000389272.3_Splice_Site_p.D329_splice|STAT3_ENST00000588969.1_Splice_Site_p.D427_splice|STAT3_ENST00000585517.1_Splice_Site_p.D427_splice	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	427					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AAAACTTACATCACAATTGGC	0.498000									Hyperimmunoglobulin E Recurrent Infection Syndrome				53	406					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505818	178505818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:178505818G>T	ENST00000315475.6	+	5	691	c.385G>T	c.(385-387)Gaa>Taa	p.E129*		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGAAGCTGTGGAATTTGAGAG	0.378000													11	20					0.00010058	0.000107401	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112457324	112457324	+	Splice_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:112457324C>A	ENST00000230538.7	-	25	3812		c.e25+1		LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 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)		ATGATTTGTACCTCATGGTAT	0.358000													10	55					1.61879e-10	1.94013e-10	1	1	0
LONRF1	91694	broad.mit.edu	37	8	12586805	12586805	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:12586805C>A	ENST00000398246.3	-	9	1794	c.1725G>T	c.(1723-1725)atG>atT	p.M575I	LONRF1_ENST00000525024.1_Start_Codon_SNP_p.M1I|LONRF1_ENST00000533751.1_Missense_Mutation_p.M218I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	575	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGGGGTAGGCCATAGTGCAAA	0.373000													22	19					3.73988e-18	5.08143e-18	1	1	0
VMA21	203547	broad.mit.edu	37	X	150573482	150573482	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:150573482G>A	ENST00000330374.6	+	3	363	c.258G>A	c.(256-258)gtG>gtA	p.V86V	VMA21_ENST00000370361.1_Silent_p.V141V|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	86					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTGTGTATGTGGCCTGGAATG	0.443000													3	66					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169495246	169495246	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:169495246T>C	ENST00000367796.3	-	18	5825	c.5624A>G	c.(5623-5625)aAa>aGa	p.K1875R	F5_ENST00000367797.3_Missense_Mutation_p.K1870R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1870	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCAAGAGTTTTAAATGAACC	0.358000													13	55					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	36020040	36020040	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:36020040C>A	ENST00000325722.3	-	2	287	c.53G>T	c.(52-54)gGa>gTa	p.G18V		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	18						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAATAATATCCTGATAAAAT	0.458000													10	60					4.3838e-07	4.89596e-07	1	1	0
RIN3	79890	broad.mit.edu	37	14	93118099	93118099	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:93118099G>T	ENST00000216487.7	+	6	864	c.705G>T	c.(703-705)gtG>gtT	p.V235V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	235					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGTGGTTTGTGAATCCTATTT	0.592000													52	101					1.13205e-32	1.76511e-32	1	1	0
AZGP1P1	646282	broad.mit.edu	37	7	99578416	99578416	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:99578416C>A	ENST00000425474.1	+	0	32					NR_036679.1																						TGGTGTCTGTCCTGCTGTCTC	0.582000													116	162					1.30055e-69	2.25073e-69	1	1	0
AICDA	57379	broad.mit.edu	37	12	8757998	8757998	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:8757998C>A	ENST00000229335.6	-	3	343	c.240G>T	c.(238-240)tgG>tgT	p.W80C	AICDA_ENST00000537228.1_Missense_Mutation_p.W80C	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	80			W -> R (in HIGM2).		B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGGAGGTGAACCAGGTGACGC	0.622000													6	47					8.12818e-05	8.69099e-05	1	1	0
NDRG3	57446	broad.mit.edu	37	20	35282092	35282092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:35282092C>A	ENST00000373803.2	-	17	1054	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NDRG3_ENST00000349004.1_Missense_Mutation_p.S320I|NDRG3_ENST00000540765.1_Missense_Mutation_p.S216I|NDRG3_ENST00000359675.2_Missense_Mutation_p.S308I|NDRG3_ENST00000373773.3_Missense_Mutation_p.S225I			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	320					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CCGAGTCATGCTGGCAGATGG	0.527000													11	46					6.49762e-13	8.15248e-13	1	1	0
CR2	1380	broad.mit.edu	37	1	207648449	207648449	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:207648449T>A	ENST00000367057.3	+	14	2793	c.2604T>A	c.(2602-2604)aaT>aaA	p.N868K	CR2_ENST00000367058.3_Missense_Mutation_p.N809K|CR2_ENST00000458541.2_Missense_Mutation_p.N782K|CR2_ENST00000367059.3_Missense_Mutation_p.N809K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	934	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTCCCACAATGACATAGTGT	0.463000													19	137					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32672689	32672689	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:32672689T>C	ENST00000537469.1	+	4	813	c.766T>C	c.(766-768)Tgg>Cgg	p.W256R	IQCC_ENST00000291358.6_Missense_Mutation_p.W176R	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	176										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAATTGCTGTGGCTGCAACA	0.532000													53	148					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890765	23890765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:23890765C>A	ENST00000532292.1	-	1	410	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTAGCGGAGCCCAGGGGAAAA	0.627000													6	2					5.18039e-06	5.65198e-06	1	1	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													3	33					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99032617	99032617	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:99032617C>G	ENST00000292478.4	-	2	499	c.249G>C	c.(247-249)gaG>gaC	p.E83D	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.E132D|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.E132D	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCTCCTCCTCGTCTTCTT	0.607000													3	88					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40228118	40228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:40228118G>T	ENST00000309930.5	+	4	296	c.272G>T	c.(271-273)tGg>tTg	p.W91L	C7orf10_ENST00000335693.4_Missense_Mutation_p.W91L|C7orf10_ENST00000401647.2_Missense_Mutation_p.W91L|C7orf10_ENST00000540834.1_Missense_Mutation_p.W84L	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	91							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACACGAACTTGGGGGCCACCT	0.333000													5	21					0.248553	0.25011	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63445331	63445331	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:63445331C>A	ENST00000453546.1	-	10	1414	c.1325G>T	c.(1324-1326)aGg>aTg	p.R442M	ASB12_ENST00000362002.2_Missense_Mutation_p.R67M|ASB12_ENST00000396130.2_Missense_Mutation_p.R58M			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCAGCCACTCCTGCTGTTGAT	0.522000													14	2					3.32936e-07	3.74436e-07	1	1	0
CFHR3	10878	broad.mit.edu	37	1	196749075	196749075	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:196749075G>T	ENST00000471440.2	+	3	476	c.402G>T	c.(400-402)tgG>tgT	p.W134C	CFHR3_ENST00000367425.4_Missense_Mutation_p.W134C|CFHR3_ENST00000391985.3_Missense_Mutation_p.W134C					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AGAAAGGCTGGTCTCCTACTC	0.493000													25	40					4.3949e-29	6.62121e-29	1	1	0
DSC3	1825	broad.mit.edu	37	18	28587012	28587012	+	Silent	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:28587012G>C	ENST00000434452.1	-	12	1903	c.1749C>G	c.(1747-1749)gtC>gtG	p.V583V	DSC3_ENST00000360428.4_Silent_p.V583V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	583	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTTGCAAATGACTACATATT	0.378000													35	51					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858833	149858833	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:149858833C>A	ENST00000331380.2	+	1	309	c.309C>A	c.(307-309)atC>atA	p.I103I		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	103					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAGTCACCATCGCCCAGGGCG	0.532000													15	78					6.31663e-08	7.25644e-08	1	1	0
RYR2	6262	broad.mit.edu	37	1	237868587	237868587	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:237868587T>A	ENST00000366574.2	+	67	9841	c.9524T>A	c.(9523-9525)cTg>cAg	p.L3175Q	RYR2_ENST00000542537.1_Missense_Mutation_p.L3159Q|RYR2_ENST00000360064.6_Missense_Mutation_p.L3173Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3175					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAACTCATCTGGACAAACAT	0.383000													8	12					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682119	100682119	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:100682119C>A	ENST00000306151.4	+	3	7486	c.7422C>A	c.(7420-7422)ggC>ggA	p.G2474G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2474	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)					CTGAGGCTGGCACCCTTTCCA	0.522000													242	133					1.92673e-116	3.36341e-116	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62887165	62887165	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:62887165C>G	ENST00000281156.4	-	2	422	c.144G>C	c.(142-144)aaG>aaC	p.K48N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CATCAAGATACTTCTTTTCTT	0.343000													9	10					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061052	15061052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:15061052C>A	ENST00000430939.2	-	9	1587	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E472D|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E550D			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	550					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATGCCCCCTTCTCCTGTGCCA	0.652000													12	12					4.3838e-07	4.89596e-07	1	1	0
RPS3	6188	broad.mit.edu	37	11	75111773	75111773	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:75111773T>A	ENST00000531188.1	+	2	128	c.66T>A	c.(64-66)aaT>aaA	p.N22K	RPS3_ENST00000527446.1_Missense_Mutation_p.N22K|RPS3_ENST00000526608.1_Missense_Mutation_p.N22K|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000524851.1_Missense_Mutation_p.N22K|RPS3_ENST00000278572.6_Missense_Mutation_p.N22K|RPS3_ENST00000534440.1_Missense_Mutation_p.N22K|RPS3_ENST00000530164.1_Missense_Mutation_p.N22K	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	22	KH type-2.				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CTGAACTGAATGAGTTTCTTA	0.458000													58	71					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474677	82474677	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:82474677T>A	ENST00000423517.2	-	13	14293	c.13956A>T	c.(13954-13956)tcA>tcT	p.S4652S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4652S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4540	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTAGGACCTGAATGAACAT	0.517000													26	11					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41201730	41201730	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:41201730C>T	ENST00000263413.3	-	3	494	c.230G>A	c.(229-231)aGa>aAa	p.R77K	C6_ENST00000337836.5_Missense_Mutation_p.R77K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	77	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATGGGGCATCTTTGCCAGTT	0.433000													11	52					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6637559	6637559	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6637559C>A	ENST00000533371.1	-	7	1131	c.333G>T	c.(331-333)ctG>ctT	p.L111L	TPP1_ENST00000299427.6_Silent_p.L354L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	354					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGCGAAGAGCAGGGTGAGAC	0.562000													26	101					2.05212e-20	2.87583e-20	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935941	30935941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:30935941G>T	ENST00000355537.3	+	2	1619	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	491					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)					CTCCTGGGATGCCTCAATCTC	0.652000													46	37					9.57592e-29	1.4346e-28	1	1	0
POF1B	79983	broad.mit.edu	37	X	84586049	84586049	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:84586049G>C	ENST00000262753.4	-	7	905	c.760C>G	c.(760-762)Ccc>Gcc	p.P254A	POF1B_ENST00000373145.3_Missense_Mutation_p.P254A	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	254							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AAATATCTGGGGTCCAATTTT	0.363000													28	10					0	0	1	0	0
STEAP2-AS1	100874100	broad.mit.edu	37	7	89749170	89749170	+	RNA	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:89749170T>C	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA																							CAGAACCACTTTGGACTTCGG	0.567000													6	3					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77948665	77948665	+	Splice_Site	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:77948665C>T	ENST00000393684.3	-	5	1100	c.709_splice	c.e5+1	p.D237_splice	ISM2_ENST00000342219.4_Splice_Site_p.D325_splice|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Splice_Site_p.D244_splice|ISM2_ENST00000412904.1_Splice_Site_p.D244_splice			Q6H9L7	ISM2_HUMAN	isthmin 2	325						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGGTGCTCACCGTAGCTGACA	0.597000													34	14					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125546297	125546297	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:125546297G>T	ENST00000533904.1	-	3	972	c.630C>A	c.(628-630)atC>atA	p.I210I	ACRV1_ENST00000433875.1_Silent_p.I191I|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000425431.1_Silent_p.I66I|ACRV1_ENST00000348856.3_Silent_p.I110I|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000426183.1_Silent_p.I140I|ACRV1_ENST00000453509.1_Silent_p.I121I|ACRV1_ENST00000445562.1_Silent_p.I115I|ACRV1_ENST00000257382.2_Silent_p.I155I			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	210					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AATTCTGAGTGATGCAGGTTC	0.393000													6	185					0.0215528	0.0221033	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15614261	15614261	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:15614261C>A	ENST00000378076.3	-	25	2939	c.2586G>T	c.(2584-2586)ctG>ctT	p.L862L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	862					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCAGAGGTCCCAGAGTTTGAA	0.423000													47	18					4.37618e-36	7.01412e-36	1	1	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987037	89987037	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:89987037G>T	ENST00000491977.1	+	0	348																											TGGAGGCTGAGGATGTTGGGG	0.522000													54	17					2.92363e-43	4.86062e-43	1	1	0
PRDM12	59335	broad.mit.edu	37	9	133553975	133553975	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:133553975G>T	ENST00000253008.2	+	4	690	c.630G>T	c.(628-630)ctG>ctT	p.L210L		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACACCTTCCTGGGGATCCCAG	0.597000													39	82					1.05386e-31	1.6274e-31	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107818553	107818553	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:107818553G>A	ENST00000379028.3	-	26	3326	c.2856C>T	c.(2854-2856)ccC>ccT	p.P952P	NRCAM_ENST00000351718.4_Silent_p.P936P|NRCAM_ENST00000425651.2_Silent_p.P952P|NRCAM_ENST00000379022.4_Silent_p.P952P|NRCAM_ENST00000379024.4_Silent_p.P933P|NRCAM_ENST00000413765.2_Silent_p.P933P			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	952	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGGAGCACTGGGGACTTACA	0.438000													38	6					0	0	1	0	0
NPIPA1	9284	broad.mit.edu	37	16	15029255	15029255	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:15029255G>T	ENST00000472413.1	+	19	4164		c.e19+1							nuclear pore complex interacting protein family, member A1																		ATTCTAAGAGGTGGGTTCCCT	0.592000													10	71					2.37509e-13	3.03211e-13	1	1	0
UNG	7374	broad.mit.edu	37	12	109539761	109539761	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:109539761G>C	ENST00000336865.2	+	3	672	c.463G>C	c.(463-465)Ggg>Cgg	p.G155R	UNG_ENST00000242576.2_Missense_Mutation_p.G164R	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	164					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCAAGCTCACGGGCTCTGCTT	0.483000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				7	81					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191459	149191459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:149191459C>A	ENST00000461958.2	-	2	356	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	ZNF746_ENST00000458143.2_Missense_Mutation_p.V54L|ZNF746_ENST00000340622.3_Missense_Mutation_p.V54L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	54					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGAACTCCACGGCTGTCTTC	0.617000													50	116					4.49761e-31	6.90552e-31	1	1	0
TXLNB	167838	broad.mit.edu	37	6	139563821	139563821	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:139563821G>T	ENST00000358430.3	-	10	2129	c.1897C>A	c.(1897-1899)Cca>Aca	p.P633T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCGCATGCTGGAGCAGGCACA	0.647000													12	65					0.000308642	0.000326534	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22384297	22384297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:22384297G>T	ENST00000263160.3	+	6	1111	c.674G>T	c.(673-675)gGa>gTa	p.G225V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	225					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G225K(1)|p.G225E(1)		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						TCCTATGCCGGAGCTGTGATT	0.398000													28	51					4.62619e-21	6.49446e-21	1	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291498	5291498	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:5291498G>C	ENST00000357006.4	-	4	1047	c.709C>G	c.(709-711)Caa>Gaa	p.Q237E	ZBTB14_ENST00000400143.3_Missense_Mutation_p.Q237E	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GTTAAGGCTTGAGGGGTCTGG	0.483000													42	65					0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142020871	142020871	+	RNA	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142020871A>T	ENST00000390381.3	+	0	287																											GCACAGACACAGTGCTGCCTG	0.582000													9	9					0	0	1	0	0
LIN37	55957	broad.mit.edu	37	19	36245159	36245159	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:36245159G>A	ENST00000301159.9	+	8	962	c.598G>A	c.(598-600)Gag>Aag	p.E200K	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	200	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCTGAGCCCGAGCCCTCACC	0.637000													16	205					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383041	31383041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:31383041G>T	ENST00000268296.4	+	17	2217	c.2096G>T	c.(2095-2097)aGt>aTt	p.S699I	ITGAX_ENST00000562522.1_Missense_Mutation_p.S699I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	699					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						AAGAACCGGAGTCTGAGCCGA	0.637000													11	29					1.08611e-07	1.23708e-07	1	1	0
BCL9L	283149	broad.mit.edu	37	11	118773617	118773617	+	Splice_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:118773617C>A	ENST00000334801.3	-	6	1799	c.834_splice	c.e6-1	p.A279_splice	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	279					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACTTTAGGGGCCTGCAGAAGG	0.677000													7	18					0.000274275	0.000291327	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6898822	6898822	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6898822T>G	ENST00000379829.2	+	1	967	c.944T>G	c.(943-945)cTa>cGa	p.L315R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTCAGAAACTATGATTGGCT	0.418000													33	26					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014896	183014896	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:183014896G>C	ENST00000328913.3	-	12	1662	c.1365C>G	c.(1363-1365)tgC>tgG	p.C455W	MCF2L2_ENST00000473233.1_Missense_Mutation_p.C455W|MCF2L2_ENST00000447025.2_Missense_Mutation_p.C455W|B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000414362.2_Missense_Mutation_p.C455W	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	455					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCGAGACTGGCACTTGTCTA	0.527000													31	46					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988511	182988511	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:182988511A>G	ENST00000326505.3	+	2	1455	c.925A>G	c.(925-927)Act>Gct	p.T309A	B3GNT5_ENST00000465010.1_Missense_Mutation_p.T309A|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.T309A|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	309					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGAGGGTAAAACTCCTTATCA	0.398000													8	20					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161580	8161580	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:8161580C>A	ENST00000343202.4	-	2	350	c.285G>T	c.(283-285)ctG>ctT	p.L95L	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Silent_p.L95L|RIC3_ENST00000425599.2_Silent_p.L95L|RIC3_ENST00000419822.2_Silent_p.L95L|RIC3_ENST00000539720.1_Silent_p.L46L	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	95						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCTGCCCCATCAGACCTCTTC	0.438000													44	98					6.20943e-19	8.52338e-19	1	1	0
EFCAB11	90141	broad.mit.edu	37	14	90420338	90420338	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:90420338T>A	ENST00000316738.7	-	2	111	c.83A>T	c.(82-84)aAa>aTa	p.K28I	RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Missense_Mutation_p.K4I|EFCAB11_ENST00000267544.9_5'UTR|EFCAB11_ENST00000556005.1_Missense_Mutation_p.K4I|EFCAB11_ENST00000538485.2_Missense_Mutation_p.K28I|EFCAB11_ENST00000556609.1_5'UTR	NM_145231.2	NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	28	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)	2						ATCACATGCTTTAAATACCTG	0.338000													27	12					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	192997166	192997166	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:192997166G>A	ENST00000342358.4	-	28	3421	c.3304C>T	c.(3304-3306)Cgt>Tgt	p.R1102C	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1102					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCATTCCACGGTATATAACT	0.363000													7	45					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394815	164394815	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:164394815C>A	ENST00000280605.3	-	1	232	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	24						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAATGGATCCGCAGGCGGT	0.597000													6	21					0.0381472	0.038775	1	1	0
ZBTB10	65986	broad.mit.edu	37	8	81412270	81412270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:81412270G>T	ENST00000430430.1	+	3	2293	c.1514G>T	c.(1513-1515)cGg>cTg	p.R505L	ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505L|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213L|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGGGCAACACGGAATCTTACC	0.378000													111	49					1.14977e-51	1.97279e-51	1	1	0
TRIO	7204	broad.mit.edu	37	5	14487912	14487912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:14487912G>T	ENST00000344204.4	+	48	7199	c.7175G>T	c.(7174-7176)aGg>aTg	p.R2392M	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2392					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					gcgcccagcaggcggcccccc	0.751000													3	1					0.115264	0.116718	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228402529	228402529	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:228402529G>T	ENST00000570156.2	+	5	1632	c.1558G>T	c.(1558-1560)Gtg>Ttg	p.V520L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V520L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V520L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	520	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGGATCCTGTGGTAAAGGC	0.602000													5	16					0.000157383	0.000167834	1	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679970	75679970	+	RNA	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:75679970G>C	ENST00000408868.1	+	0	57					NR_031714.1																						CTTCCCTCTGGGTACCAGACA	0.507000													6	72					0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750914	76750914	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:76750914G>A	ENST00000533140.1	+	2	457	c.319G>A	c.(319-321)Gca>Aca	p.A107T	B3GNT6_ENST00000354301.5_Missense_Mutation_p.A107T|B3GNT6_ENST00000421061.1_Intron			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	107					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCTTTGGGACGCACCGGCCAA	0.716000													7	5					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315714	67315714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:67315714C>T	ENST00000360461.5	+	6	3514	c.979C>T	c.(979-981)Cac>Tac	p.H327Y	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.H327Y|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.H246Y|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.H327Y	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	327					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCTTACTGCCACCAGGCCTG	0.612000													28	52					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309224	52309224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:52309224G>T	ENST00000550683.1	+	6	1131	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	ACVRL1_ENST00000419526.2_Missense_Mutation_p.D156Y|ACVRL1_ENST00000388922.4_Missense_Mutation_p.D330Y	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	330	Protein kinase.		C -> Y (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum; dbSNP:rs28936688).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGCCCACCGCGACTTCAAGAG	0.657000													8	57					2.17888e-05	2.34851e-05	1	1	0
ROS1	6098	broad.mit.edu	37	6	117658334	117658334	+	Splice_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:117658334C>A	ENST00000368508.3	-	31	5447		c.e31+1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTAGTACTCACCTTTTGTCTT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	7					2.94398e-08	3.41621e-08	1	1	0
RND2	8153	broad.mit.edu	37	17	41180651	41180651	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:41180651A>T	ENST00000544533.1	+	5	748	c.641A>T	c.(640-642)gAg>gTg	p.E214V	RND2_ENST00000587250.2_Missense_Mutation_p.E213V	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	213					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CGGGGGAATGAGGGCGAGATA	0.617000													9	7					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48377888	48377888	+	Silent	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:48377888T>G	ENST00000380518.3	-	29	2087	c.1923A>C	c.(1921-1923)gcA>gcC	p.A641A	COL2A1_ENST00000337299.6_Silent_p.A572A|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	641	Triple-helical region.			A -> E (in Ref. 1; CAA34488 and 16; CAA32030).	axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGGGGTCCTGCAGCACCTG	0.592000													21	9					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720268	146720268	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:146720268C>T	ENST00000392299.2	+	8	2563	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	GRM1_ENST00000492807.2_Missense_Mutation_p.P698L|GRM1_ENST00000361719.2_Missense_Mutation_p.P698L|GRM1_ENST00000282753.1_Missense_Mutation_p.P698L|GRM1_ENST00000507907.1_Missense_Mutation_p.P698L|GRM1_ENST00000355289.4_Missense_Mutation_p.P698L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	698					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCCGGAAGCCCAGGTTCATG	0.517000													29	33					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054162	29054162	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:29054162G>A	ENST00000377173.2	-	1	928	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGCTGTAGATGAGGGAGTTCA	0.403000													26	18					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327421	97327421	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:97327421C>T	ENST00000328504.3	+	2	395	c.128C>T	c.(127-129)cCc>cTc	p.P43L	SPATA8_ENST00000558553.1_Silent_p.S2S	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	43										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATGACATGTCCCTGCGGCTGG	0.597000													26	19					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956258	32956258	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:32956258A>T	ENST00000399302.2	+	4	3402	c.3067A>T	c.(3067-3069)Agt>Tgt	p.S1023C	QSER1_ENST00000527788.1_Missense_Mutation_p.S784C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1023										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TACATCAGAGAGTGAATTTAC	0.443000													10	93					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089627	31089627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:31089627C>A	ENST00000359202.3	-	1	543	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	148	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGCCACCCAGCTCTTTGATGG	0.612000													3	54					1	1	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1265053	1265053	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:1265053G>A	ENST00000447027.1	+	31	7010	c.6952G>A	c.(6952-6954)Gag>Aag	p.E2318K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E2315K|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2315	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATGGGCTGTGAGCCCCAGTG	0.672000													29	107					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160602444	160602444	+	Silent	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:160602444A>T	ENST00000259050.3	+	4	632	c.510A>T	c.(508-510)tcA>tcT	p.S170S	MARCH7_ENST00000409175.1_Silent_p.S170S|MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409591.1_Silent_p.S132S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	170	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCACAACTTCATCATGTATGT	0.328000													8	21					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111542309	111542309	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:111542309G>T	ENST00000389811.4	+	3	300	c.75_splice	c.e3-1	p.A26_splice	ACOXL_ENST00000340561.4_Splice_Site_p.A26_splice|ACOXL_ENST00000439055.1_Splice_Site_p.A26_splice			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	26					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATATTTTCAGGCAGAGAAAAC	0.403000													21	25					2.21704e-12	2.74734e-12	1	1	0
TAF1	6872	broad.mit.edu	37	X	70683692	70683692	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:70683692G>A	ENST00000449580.1	+	39	5568	c.5517G>A	c.(5515-5517)gaG>gaA	p.E1839E	TAF1_ENST00000461764.1_Intron|TAF1_ENST00000373790.4_Silent_p.E1805E|TAF1_ENST00000276072.3_Silent_p.E1826E|TAF1_ENST00000423759.1_Silent_p.E1828E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1805	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCTATGAGGAGCCTGATCCCA	0.512000													8	23					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3474240	3474240	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:3474240G>A	ENST00000520002.1	-	8	1644	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	CSMD1_ENST00000602723.1_Silent_p.S363S|CSMD1_ENST00000539096.1_Silent_p.S363S|CSMD1_ENST00000400186.3_Silent_p.S363S|CSMD1_ENST00000537824.1_Silent_p.S363S|CSMD1_ENST00000542608.1_Silent_p.S363S|CSMD1_ENST00000602557.1_Silent_p.S363S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	363	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTGAAGTCGGAACCTGCTC	0.373000													3	12					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137589497	137589497	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:137589497A>T	ENST00000274721.3	-	6	1228	c.982T>A	c.(982-984)Tgt>Agt	p.C328S	GFRA3_ENST00000378362.3_Missense_Mutation_p.C297S	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	328					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCATTTCACACTCCTCCTGC	0.572000													22	13					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96222865	96222865	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:96222865G>C	ENST00000453304.1	-	3	730	c.382C>G	c.(382-384)Cgc>Ggc	p.R128G	UNC5C_ENST00000506749.1_Missense_Mutation_p.R128G|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	128	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACTTGCTGGCGCGAAATCTCA	0.468000													7	25					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725017	140725017	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140725017T>A	ENST00000253812.6	+	1	1417	c.1417T>A	c.(1417-1419)Tca>Aca	p.S473T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCATCTTCTCAGTGACAGC	0.547000													16	91					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284408	14284408	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:14284408G>T	ENST00000310358.7	+	0	2682				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AAAAAGTGCCGCATCCGAAAA	0.562000													13	37					7.03913e-09	8.23968e-09	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51440706	51440706	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:51440706C>T	ENST00000335891.5	-	16	2998	c.2989G>A	c.(2989-2991)Gca>Aca	p.A997T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1446					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCTTCCCCTGCGTTCTCATTA	0.502000													4	4					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878670	5878670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:5878670A>G	ENST00000537935.1	-	1	294	c.263T>C	c.(262-264)tTg>tCg	p.L88S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGATGCCCAACATTTTGGG	0.458000													56	117					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887051	179887051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:179887051G>T	ENST00000435319.3	+	10	1620	c.1429G>T	c.(1429-1431)Gtg>Ttg	p.V477L	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.V493L	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	477						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GAATGCAGCTGTGGTACACCG	0.438000													33	44					2.48696e-23	3.56612e-23	1	1	0
GPNMB	10457	broad.mit.edu	37	7	23296588	23296588	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:23296588G>A	ENST00000258733.4	+	4	740	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GPNMB_ENST00000381990.2_Missense_Mutation_p.G149S|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.G149S|GPNMB_ENST00000539136.1_Missense_Mutation_p.G50S			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	149					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAATGGCACCGGCCAAAGCCA	0.493000													14	42					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110300	20110300	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:20110300T>C	ENST00000381569.1	-	3	1499	c.1142A>G	c.(1141-1143)cAg>cGg	p.Q381R	LZTS1_ENST00000265801.6_Missense_Mutation_p.Q381R|LZTS1_ENST00000522290.1_Missense_Mutation_p.Q381R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	381					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)		CACCTCCCACTGGGTCTCCTC	0.632000													16	22					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29642559	29642559	+	Silent	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:29642559G>C	ENST00000318184.5	-	6	695	c.696C>G	c.(694-696)gcC>gcG	p.A232A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	232	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTACCTGGCAGGCGTCCATTC	0.493000													13	9					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	115					0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297272	144297272	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:144297272G>T	ENST00000330824.2	+	4	509	c.434G>T	c.(433-435)cGa>cTa	p.R145L		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	145	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAAAGCTCCCGAGTCCAGGAC	0.672000													95	46					1.64436e-45	2.74516e-45	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589097	140589097	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140589097G>T	ENST00000239450.2	+	1	807	c.618G>T	c.(616-618)ccG>ccT	p.P206P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		206	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P206P(1)		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)			AAGAGCGCCCGGAGCTCAGTT	0.498000													8	10					5.68852e-11	6.869e-11	1	1	0
NRXN3	9369	broad.mit.edu	37	14	80328196	80328196	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:80328196C>T	ENST00000281127.7	+	6	2067	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	NRXN3_ENST00000428277.2_Silent_p.N423N|NRXN3_ENST00000335750.5_Silent_p.N1025N|NRXN3_ENST00000554719.1_Silent_p.N1025N|NRXN3_ENST00000557594.1_Silent_p.N601N|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	601					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGACGCGGAACTACATCAGCA	0.557000													17	21					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542296	63542296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:63542296C>A	ENST00000478300.1	+	4	698	c.287C>A	c.(286-288)tCg>tAg	p.S96*	SYNPR_ENST00000479198.1_Nonsense_Mutation_p.S76*|SYNPR_ENST00000295894.5_Nonsense_Mutation_p.S76*|SYNPR_ENST00000460711.1_Nonsense_Mutation_p.S87*|SYNPR_ENST00000465156.1_Nonsense_Mutation_p.S76*|SYNPR_ENST00000478744.1_3'UTR	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	76	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GGTGACTCCTCGTCTTCAGCA	0.498000													5	9					3.59834e-05	3.86809e-05	1	1	0
CCDC51	79714	broad.mit.edu	37	3	48475235	48475235	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:48475235C>T	ENST00000395694.2	-	3	444	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	CCDC51_ENST00000447018.1_Missense_Mutation_p.R11Q|CCDC51_ENST00000412398.2_Missense_Mutation_p.R11Q|CCDC51_ENST00000442740.1_Missense_Mutation_p.R11Q|CCDC51_ENST00000395696.1_Missense_Mutation_p.R120Q	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	120						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAAGTCCTCCCGAGCCTCTCG	0.582000													18	73					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137942540	137942540	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:137942540A>T	ENST00000469044.1	+	5	671	c.400A>T	c.(400-402)Acc>Tcc	p.T134S	ARMC8_ENST00000481646.1_Missense_Mutation_p.T120S|ARMC8_ENST00000393058.3_Missense_Mutation_p.T124S|ARMC8_ENST00000471453.1_Missense_Mutation_p.T120S|ARMC8_ENST00000489213.1_Missense_Mutation_p.T92S|ARMC8_ENST00000538260.1_Missense_Mutation_p.T134S|ARMC8_ENST00000491704.1_Missense_Mutation_p.T92S|ARMC8_ENST00000485396.1_Missense_Mutation_p.T92S|ARMC8_ENST00000358441.2_Missense_Mutation_p.T120S|ARMC8_ENST00000470821.1_Missense_Mutation_p.T134S|ARMC8_ENST00000461822.1_Missense_Mutation_p.T134S	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	134							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACCATCTTCACCAGTCCTGT	0.413000													15	30					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110224575	110224575	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:110224575C>A	ENST00000418703.2	-	13	2370	c.2276G>T	c.(2275-2277)gGg>gTg	p.G759V	TRPV4_ENST00000261740.2_Missense_Mutation_p.G759V|TRPV4_ENST00000392719.2_Missense_Mutation_p.G712V|TRPV4_ENST00000544971.1_Missense_Mutation_p.G652V|TRPV4_ENST00000541794.1_Missense_Mutation_p.G712V|TRPV4_ENST00000537083.1_Missense_Mutation_p.G699V|TRPV4_ENST00000536838.1_Missense_Mutation_p.G725V|TRPV4_ENST00000346520.2_Missense_Mutation_p.G699V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	759					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GACCATCTCCCCAGAGCGGAA	0.662000													45	26					5.82388e-19	8.02158e-19	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42151129	42151129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:42151129C>A	ENST00000320955.6	-	48	8265	c.8038G>T	c.(8038-8040)Gag>Tag	p.E2680*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2680					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGGAGCTCCTCCAGGCGA	0.697000													11	6					0.00316338	0.00331618	1	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74915480	74915480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:74915480C>T	ENST00000289575.5	+	14	2380	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S518F|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S546F|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S435F|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S640F|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S435F	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	662					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AAAACAGGTTCTGTGATCTGC	0.547000													31	32					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295898	20295898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:20295898C>A	ENST00000568211.1	+	1	291	c.291C>A	c.(289-291)tgC>tgA	p.C97*	OR4N2_ENST00000315947.1_Nonsense_Mutation_p.C97*			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGAGGCTGCATCACTCAGC	0.537000													36	130					3.61848e-18	4.92481e-18	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41978935	41978935	+	Missense_Mutation	SNP	G	G	A	rs138998440		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:41978935G>A	ENST00000372584.1	-	7	6971	c.5957C>T	c.(5956-5958)tCg>tTg	p.S1986L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1986L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1986L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1986L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1986					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTGGTTAGCGAGTGTTTGCG	0.622000													7	94					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78520969	78520969	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:78520969C>G	ENST00000397909.2	+	17	4434	c.4261C>G	c.(4261-4263)Cta>Gta	p.L1421V	NAV3_ENST00000536525.2_Missense_Mutation_p.L1421V|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.L1421V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1421	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGAAATACACTACCCAAAAA	0.368000										HNSCC(70;0.22)			36	20					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580453	120580453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:120580453G>A	ENST00000300648.6	-	44	5699	c.5687C>T	c.(5686-5688)aCc>aTc	p.T1896I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1896					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCAGCTGGGTGTCTGAGCG	0.622000													12	74					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116075448	116075448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:116075448G>T	ENST00000369271.3	-	6	783	c.483C>A	c.(481-483)taC>taA	p.Y161*	AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.Y214*|AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.Y161*	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	161					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGGGCCACTGGTAAGGGGCCG	0.647000													11	18					1.41608e-15	1.87025e-15	1	1	0
OR51S1	119692	broad.mit.edu	37	11	4869870	4869870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:4869870G>T	ENST00000322101.2	-	1	644	c.569C>A	c.(568-570)cCa>cAa	p.P190Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCACATCTGGATGCAAGCA	0.542000													50	80					1.07363e-35	1.71056e-35	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905763	144905763	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:144905763G>T	ENST00000370490.1	+	1	6075	c.1820G>T	c.(1819-1821)aGt>aTt	p.S607I	SLITRK2_ENST00000413937.2_Missense_Mutation_p.S607I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S607I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S607I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S607I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	607						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTCTCCTAGTTCCTATCCT	0.448000													49	7					1.67886e-27	2.49653e-27	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1269886	1269886	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:1269886G>A	ENST00000447027.1	+	31	11843	c.11785G>A	c.(11785-11787)Gtg>Atg	p.V3929M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V3926M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3926	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCACAACTGTGGCCACTGG	0.632000													3	23					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246685	80246685	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:80246685C>T	ENST00000286794.4	-	1	519	c.347G>A	c.(346-348)cGg>cAg	p.R116Q		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	116	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CAAGGCTGGCCGGTTACTCTT	0.512000													6	33					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689313	60689313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:60689313C>A	ENST00000335712.6	-	4	961	c.734G>T	c.(733-735)gGa>gTa	p.G245V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.G211V|BCL11A_ENST00000358510.4_Missense_Mutation_p.G211V|BCL11A_ENST00000356842.4_Missense_Mutation_p.G245V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	245					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGATACTGATCCTGGTATTCT	0.552000			T	IGH@	B-CLL								6	24					0.0381472	0.038775	1	1	0
LRP10	26020	broad.mit.edu	37	14	23344833	23344833	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:23344833C>G	ENST00000359591.4	+	5	1367	c.676C>G	c.(676-678)Ccc>Gcc	p.P226A	LRP10_ENST00000546834.1_Missense_Mutation_p.P226A	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	226	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCTGCTGGACCCCCATGATGG	0.612000													30	66					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34234291	34234291	+	RNA	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:34234291G>A	ENST00000587132.1	-	0	3736																											AGACTCTGGAGGCAGAGTTGG	0.517000													9	14					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420494	65420494	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:65420494G>T	ENST00000519389.1	+	12	2318	c.2139G>T	c.(2137-2139)atG>atT	p.M713I	HEPH_ENST00000374727.3_Missense_Mutation_p.M662I|HEPH_ENST00000441993.2_Missense_Mutation_p.M662I|HEPH_ENST00000336279.5_Missense_Mutation_p.M392I|HEPH_ENST00000343002.2_Missense_Mutation_p.M659I|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	659	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGGAGTCATGTTCCAGGGCA	0.557000													31	6					3.66854e-30	5.55819e-30	1	1	0
GPR98	84059	broad.mit.edu	37	5	89979668	89979668	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:89979668G>T	ENST00000405460.2	+	28	6026	c.5930G>T	c.(5929-5931)gGg>gTg	p.G1977V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1977					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATCCATATGGGATATTCATT	0.398000													3	20					1	1	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923357	24923357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:24923357G>T	ENST00000329468.2	+	1	2817	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATGGGCCGCAGCAGAAAACCT	0.557000													94	38					6.46527e-39	1.04881e-38	1	1	0
GOLGA5	9950	broad.mit.edu	37	14	93276678	93276678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:93276678G>A	ENST00000163416.2	+	5	1328	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	GOLGA5_ENST00000355976.2_Missense_Mutation_p.D358N	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	358					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCATGAAGCGGATGCCACTCT	0.428000			T	RET	papillary thyroid								10	35					0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846488	143846488	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:143846488C>T	ENST00000335822.5	-	4	852	c.225G>A	c.(223-225)ctG>ctA	p.L75L	LYNX1_ENST00000317543.7_Silent_p.L41L|RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000523332.1_Silent_p.*83*	NM_023946.2	NP_076435.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	41	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGAGTCCCTCAGGCATCTGG	0.612000													6	51					0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83425804	83425804	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:83425804C>A	ENST00000449862.2	-	2	325	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W	TMEM150C_ENST00000515780.1_Missense_Mutation_p.G3W|TMEM150C_ENST00000508701.1_Missense_Mutation_p.G3W	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	3						integral to membrane				ovary(1)	1						CATTTCTTCCCATCCATGCCT	0.338000													3	16					2.56e-06	2.816e-06	1	1	0
MUT	4594	broad.mit.edu	37	6	49419405	49419405	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:49419405C>G	ENST00000274813.3	-	6	1233	c.1106G>C	c.(1105-1107)cGt>cCt	p.R369P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348000													25	11					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102992	113102992	+	Silent	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:113102992A>T	ENST00000316851.7	+	10	1311	c.1311A>T	c.(1309-1311)tcA>tcT	p.S437S	NCAM1_ENST00000533760.1_Silent_p.S319S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.S446S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	447	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCACGATCTCATGGTTTCGGG	0.552000													31	56					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018510	62018510	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:62018510G>T	ENST00000578147.1	-	24	5208	c.5132C>A	c.(5131-5133)tCc>tAc	p.S1711Y	SCN4A_ENST00000435607.1_Missense_Mutation_p.S1711Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1711					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGACACCTTGGAGGGGTTGGC	0.597000													29	72					3.33393e-15	4.35309e-15	1	1	0
FLG	2312	broad.mit.edu	37	1	152285559	152285559	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:152285559T>A	ENST00000368799.1	-	3	1838	c.1803A>T	c.(1801-1803)tcA>tcT	p.S601S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	601	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)			GGCCCACCTGTGAGTGTCTAG	0.552000									Ichthyosis				57	251					0	0	1	0	0
YPEL2	388403	broad.mit.edu	37	17	57465723	57465723	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:57465723T>G	ENST00000312655.4	+	3	471	c.153T>G	c.(151-153)ttT>ttG	p.F51L	YPEL2_ENST00000585166.1_Missense_Mutation_p.F51L|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	51						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CATACCTCTTTAACTCAGTGT	0.418000													71	180					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11756768	11756768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:11756768G>T	ENST00000381486.2	+	21	3634	c.3334G>T	c.(3334-3336)Gag>Tag	p.E1112*	GREB1_ENST00000396123.1_Nonsense_Mutation_p.E110*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.E1112*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1112	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTACCTCGGAGAAGAGAAG	0.542000													111	145					6.51928e-57	1.12098e-56	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108391450	108391450	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:108391450A>G	ENST00000361582.3	+	23	2766	c.2536A>G	c.(2536-2538)Aaa>Gaa	p.K846E	DZIP3_ENST00000463306.1_Missense_Mutation_p.K846E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	846					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGCACAATGAAAACATACGT	0.403000													16	57					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088845	94088845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:94088845C>A	ENST00000553484.1	+	31	5486	c.5332C>A	c.(5332-5334)Ctc>Atc	p.L1778I	UNC79_ENST00000256339.4_Missense_Mutation_p.L1579I|UNC79_ENST00000555664.1_Missense_Mutation_p.L1756I|UNC79_ENST00000393151.2_Missense_Mutation_p.L1756I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1756						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						GTCGTTTGCTCTCCCCGAGAT	0.587000													48	46					5.22555e-25	7.65715e-25	1	1	0
BICC1	80114	broad.mit.edu	37	10	60556202	60556202	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:60556202C>A	ENST00000373886.3	+	10	1286	c.1282C>A	c.(1282-1284)Cca>Aca	p.P428T	BICC1_ENST00000263103.1_Missense_Mutation_p.P54T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	428					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGCAACCAGTCCATCCCCAGC	0.478000													21	50					3.28513e-13	4.14773e-13	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56019928	56019928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:56019928C>A	ENST00000303059.3	+	1	253	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGATTCCTGGCTCCACAACCC	0.378000													14	85					0.00185496	0.00194965	1	1	0
CRB2	286204	broad.mit.edu	37	9	126125467	126125467	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:126125467G>T	ENST00000373631.3	+	2	419	c.418_splice	c.e2+1	p.G140_splice	CRB2_ENST00000359999.3_Splice_Site_p.G140_splice	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	140	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGCTATGCAGGTAACAGCCT	0.607000													7	19					0.00621372	0.00644653	1	1	0
PIGB	9488	broad.mit.edu	37	15	55647133	55647133	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:55647133C>T	ENST00000164305.5	+	11	1766	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	PIGB_ENST00000539642.1_Missense_Mutation_p.A297V	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	492					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CATGATGATGCATCATTGCCT	0.378000													5	10					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66347725	66347725	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:66347725A>G	ENST00000448504.2	+	5	1260	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ARSG_ENST00000452479.2_5'UTR|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	155					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)			GGTTTTGATTACTACTTTGGA	0.488000													13	69					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158140835	158140835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:158140835G>C	ENST00000259056.4	+	2	1981	c.1496G>C	c.(1495-1497)aGt>aCt	p.S499T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	499	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCAACCACCAGTGTCATCATG	0.473000													36	39					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171685	106171685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:106171685A>G	ENST00000541806.1	+	2	746	c.227A>G	c.(226-228)gAc>gGc	p.D76G	CLDN2_ENST00000336803.1_Missense_Mutation_p.D76G|CLDN2_ENST00000540876.1_Missense_Mutation_p.D76G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	76					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGCCCGCTGACATCCAGGCT	0.577000													3	113					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910854	16910854	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:16910854G>T	ENST00000524140.2	+	17	4035	c.3617G>T	c.(3616-3618)cGg>cTg	p.R1206L	NWD1_ENST00000552788.1_Missense_Mutation_p.R1206L|NWD1_ENST00000549814.1_Missense_Mutation_p.R1164L|NWD1_ENST00000339803.6_Missense_Mutation_p.R1071L|NWD1_ENST00000379808.3_Missense_Mutation_p.R1206L|NWD1_ENST00000523826.1_Missense_Mutation_p.R1000L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1206							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATAGGTCCCGGGTGCCTGCA	0.587000													20	16					1.50039e-11	1.83102e-11	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	91996117	91996117	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:91996117C>A	ENST00000450295.1	-	14	2367	c.1591G>T	c.(1591-1593)Gct>Tct	p.A531S	SEMA4D_ENST00000422704.2_Missense_Mutation_p.A531S|SEMA4D_ENST00000455551.2_Missense_Mutation_p.A531S|SEMA4D_ENST00000343780.4_Missense_Mutation_p.A531S|SEMA4D_ENST00000438547.2_Missense_Mutation_p.A531S|SEMA4D_ENST00000356444.2_Missense_Mutation_p.A531S|SEMA4D_ENST00000339861.4_Missense_Mutation_p.A531S|SEMA4D_ENST00000420987.1_Missense_Mutation_p.A531S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	531	PSI.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGTGCAGAGCCACGCAGGTC	0.677000													19	28					6.33239e-15	8.25472e-15	1	1	0
CDKAL1	54901	broad.mit.edu	37	6	21000597	21000597	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:21000597A>G	ENST00000274695.4	+	11	1216	c.1049A>G	c.(1048-1050)aAa>aGa	p.K350R	CDKAL1_ENST00000378610.1_Missense_Mutation_p.K350R|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K280R	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	350					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)			GATTTTCTGAAAGAGAAGTAA	0.373000													18	47					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58247428	58247428	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:58247428C>A	ENST00000249750.4	-	13	2291	c.1524G>T	c.(1522-1524)acG>acT	p.T508T	ALDH1A2_ENST00000559517.1_Silent_p.T412T|ALDH1A2_ENST00000347587.3_Silent_p.T470T|ALDH1A2_ENST00000558231.1_Silent_p.T479T|ALDH1A2_ENST00000537372.1_Silent_p.T487T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	508					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTACTGTCACCGTCTTAACTT	0.537000													76	31					3.47803e-31	5.3503e-31	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731522	21731522	+	Silent	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:21731522C>G	ENST00000578713.1	+	2	601	c.597C>G	c.(595-597)ggC>ggG	p.G199G	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCTTTGCAGGCAAGAAGTTGG	0.547000													5	36					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295865	20295865	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:20295865C>A	ENST00000568211.1	+	1	258	c.258C>A	c.(256-258)ctC>ctA	p.L86L	OR4N2_ENST00000315947.1_Silent_p.L86L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGACTTCCTCTCTGCGAAGA	0.527000													77	141					1.01459e-35	1.61972e-35	1	1	0
POU4F3	5459	broad.mit.edu	37	5	145719335	145719335	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:145719335C>T	ENST00000230732.4	+	2	434	c.345C>T	c.(343-345)ctC>ctT	p.L115L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	115					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGGGCCTCGAAGGCGACC	0.672000													11	50					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105002	168105002	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:168105002C>T	ENST00000409195.1	+	9	7189	c.7100C>T	c.(7099-7101)cCt>cTt	p.P2367L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2145L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2367L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2192					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGCCGCCTCCTCCTCCTCCA	0.463000													8	47					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61094347	61094347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:61094347C>A	ENST00000301764.7	-	5	965	c.568G>T	c.(568-570)Gta>Tta	p.V190L	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	190	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TAGGTTTTTACGTGCCGCCCC	0.517000								Nucleotide excision repair (NER)					67	65					7.07328e-35	1.1225e-34	1	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798746	55798746	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:55798746G>T	ENST00000313555.1	+	1	852	c.852G>T	c.(850-852)atG>atT	p.M284I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	284					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)					TATTTCCCATGTTTAATCCAA	0.348000													12	38					2.27111e-07	2.57222e-07	1	1	0
FGA	2243	broad.mit.edu	37	4	155507190	155507190	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:155507190G>T	ENST00000302053.3	-	5	1469	c.1391C>A	c.(1390-1392)aCc>aAc	p.T464N	FGA_ENST00000403106.3_Missense_Mutation_p.T464N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	464					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTAGTAACGGTTTTAGAGCA	0.458000													50	68					8.72158e-25	1.27335e-24	1	1	0
DGKB	1607	broad.mit.edu	37	7	14378224	14378224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:14378224G>A	ENST00000403951.2	-	23	2460	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.R673*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R680*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R681*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R662*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R681*|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CGATGGCTTCGTCTTTTCTTA	0.398000													17	44					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187647	37187647	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:37187647G>T	ENST00000425901.2	+	0	1489					NR_033753.2																						CATATCAAGGGGTAACAGTTC	0.502000													77	64					1.88935e-48	3.20074e-48	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64167095	64167095	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:64167095G>A	ENST00000395391.1	+	4	1788	c.413G>A	c.(412-414)gGa>gAa	p.G138E	ZNF107_ENST00000344930.3_Missense_Mutation_p.G138E|ZNF107_ENST00000423627.1_Missense_Mutation_p.G138E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAATGTGGAAAAGCCTTT	0.353000													4	10					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016445	43016445	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:43016445C>A	ENST00000473592.1	-	0	2754																											AAGCTGTTCCCATTGTTATTA	0.353000													26	49					2.12542e-12	2.64196e-12	1	1	0
PRKG1	5592	broad.mit.edu	37	10	52913067	52913067	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:52913067G>A	ENST00000373980.4	+	2	872	c.455G>A	c.(454-456)gGg>gAg	p.G152E	PRKG1_ENST00000401604.2_Missense_Mutation_p.G137E|PRKG1_ENST00000373985.1_Missense_Mutation_p.G125E	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	137					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGAGACGTGGGGTCACTGGTG	0.453000													17	28					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811668	23811668	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:23811668G>A	ENST00000314520.3	+	1	1215	c.739G>A	c.(739-741)Gct>Act	p.A247T	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	247						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGCTATTATGCTTCCAGGGG	0.577000													27	16					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748170	19748170	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:19748170C>G	ENST00000400113.3	-	5	1290	c.1186G>C	c.(1186-1188)Gat>Cat	p.D396H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	396					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACATGAGATCGAACTTATGG	0.642000													79	61					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071382	70071382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:70071382C>T	ENST00000370598.1	+	29	5038	c.4217C>T	c.(4216-4218)aCg>aTg	p.T1406M	BAI3_ENST00000546190.1_Missense_Mutation_p.T370M|BAI3_ENST00000238918.8_Missense_Mutation_p.T612M	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1406					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGGATCAACGATATCAATG	0.358000													31	32					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520231	83520231	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:83520231G>T	ENST00000566620.1	+	7	1221	c.931G>T	c.(931-933)Gtt>Ttt	p.V311F	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.V272F|CDH13_ENST00000268613.10_Missense_Mutation_p.V358F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	311	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATTGTCACTGTTGTGTCACC	0.483000													15	56					8.34094e-07	9.23831e-07	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10165482	10165482	+	Splice_Site	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:10165482T>C	ENST00000396502.1	+	2	318	c.190_splice	c.e2+1	p.F64_splice	CLEC12B_ENST00000338896.5_Splice_Site_p.F64_splice|CLEC1B_ENST00000428126.2_Intron	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	64						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGGATGATGTGTAAGTATAT	0.458000													37	28					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77635810	77635810	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:77635810C>A	ENST00000534064.1	-	12	1534	c.1500G>T	c.(1498-1500)agG>agT	p.R500S	INTS4_ENST00000529807.1_Missense_Mutation_p.R500S|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	500					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATATGGAGTCCCTATCAGTAG	0.378000													7	38					0.00244969	0.00257138	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56127789	56127789	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:56127789C>A	ENST00000303039.3	+	1	99	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTGTCCAGAGCTCCAGATTCC	0.493000													31	80					1.06647e-15	1.41084e-15	1	1	0
SFI1	9814	broad.mit.edu	37	22	32000907	32000907	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:32000907G>C	ENST00000432498.1	+	19	2330	c.1937G>C	c.(1936-1938)aGc>aCc	p.S646T	SFI1_ENST00000443326.1_Missense_Mutation_p.S595T|SFI1_ENST00000443011.1_Missense_Mutation_p.S524T|SFI1_ENST00000400289.1_Missense_Mutation_p.S595T|SFI1_ENST00000540643.1_Missense_Mutation_p.S622T|SFI1_ENST00000414585.1_Missense_Mutation_p.S524T|SFI1_ENST00000400288.2_Missense_Mutation_p.S677T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	677	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCCAGGGAGAGCCAGCACAAC	0.632000													5	22					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77491906	77491906	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:77491906T>C	ENST00000238647.3	-	1	3128	c.2230A>G	c.(2230-2232)Aga>Gga	p.R744G		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	744	Cys-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ATACTCTCTCTAGAGCAAGGG	0.577000													36	10					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55729202	55729202	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:55729202G>T	ENST00000379906.2	+	7	1290	c.1035G>T	c.(1033-1035)ctG>ctT	p.L345L	SLC6A2_ENST00000561820.1_Silent_p.L345L|SLC6A2_ENST00000568943.1_Silent_p.L345L|SLC6A2_ENST00000567238.1_Silent_p.L240L|SLC6A2_ENST00000566163.1_Silent_p.L300L|SLC6A2_ENST00000414754.3_Silent_p.L345L|SLC6A2_ENST00000219833.8_Silent_p.L345L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	345					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATGCCCTGCTGACCAGCAGCA	0.532000													35	83					5.34276e-22	7.55323e-22	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55222135	55222135	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:55222135G>T	ENST00000413439.1	+	0	1662																											AGCTCACGCAGATTCTTCCCC	0.607000													57	51					6.07242e-22	8.5697e-22	1	1	0
STAB2	55576	broad.mit.edu	37	12	104126904	104126904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:104126904G>T	ENST00000388887.2	+	51	5608	c.5404G>T	c.(5404-5406)Gac>Tac	p.D1802Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1802	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTCAACCAAGACAACAAGGA	0.493000													22	177					2.89027e-11	3.51117e-11	1	1	0
STX19	415117	broad.mit.edu	37	3	93734018	93734018	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:93734018C>T	ENST00000315099.2	-	2	352	c.96G>A	c.(94-96)ggG>ggA	p.G32G	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	32					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						GTAGAAACACCCCTTGTTCCT	0.393000													11	25					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105224973	105224973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:105224973C>G	ENST00000262903.4	-	16	1967	c.1691G>C	c.(1690-1692)aGg>aCg	p.R564T	HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_Splice_Site	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	564					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ACAGCTACTCCTAAAAATAGA	0.323000													21	24					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986863	89986863	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:89986863C>A	ENST00000491977.1	+	0	174																											CTAGTCAGAGCCTCCTGCATA	0.527000													18	8					6.44725e-10	7.66984e-10	1	1	0
SAR1B	51128	broad.mit.edu	37	5	133945325	133945325	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:133945325C>G	ENST00000402673.2	-	5	562	c.284G>C	c.(283-285)gGc>gCc	p.G95A	SAR1B_ENST00000509937.1_Missense_Mutation_p.G27A|SAR1B_ENST00000507419.1_Missense_Mutation_p.G27A|SAR1B_ENST00000502539.1_Missense_Mutation_p.G27A|SAR1B_ENST00000439578.1_Missense_Mutation_p.G95A	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	SAR1 homolog B (S. cerevisiae)	95					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATACAATGCCATTGATAGC	0.378000													10	53					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36478394	36478394	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:36478394G>T	ENST00000312513.5	+	8	998	c.837G>T	c.(835-837)acG>acT	p.T279T		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	279					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTTGCAGACGGTGATGATCC	0.557000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					2.23348e-06	2.4602e-06	1	1	0
CD200R1	131450	broad.mit.edu	37	3	112648323	112648323	+	Silent	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:112648323T>G	ENST00000471858.1	-	3	397	c.165A>C	c.(163-165)acA>acC	p.T55T	CD200R1_ENST00000490004.1_Silent_p.T55T|CD200R1_ENST00000440122.2_Silent_p.T78T|CD200R1_ENST00000308611.3_Silent_p.T78T|CD200R1_ENST00000295863.4_Silent_p.T33T	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCACAGCATTTGTAGCCATCT	0.378000													29	36					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	622627	622627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:622627C>A	ENST00000588649.2	-	8	1665	c.1581G>T	c.(1579-1581)caG>caT	p.Q527H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	527					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTAGTGGTTCTGCAGCGCCT	0.682000													15	7					1.22574e-08	1.4327e-08	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4903223	4903223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:4903223C>A	ENST00000380378.1	+	1	175	c.175C>A	c.(175-177)Cca>Aca	p.P59T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.P32T	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	32					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)		GATCTCCATTCCAGTCTGCTG	0.453000													95	106					1.81606e-51	3.10937e-51	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8737819	8737819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:8737819G>T	ENST00000378641.3	+	24	3125	c.2650G>T	c.(2650-2652)Gct>Tct	p.A884S	PLCB1_ENST00000378637.2_Missense_Mutation_p.A884S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A884S|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	884					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCCAGCCAGCTCCAGGTAA	0.552000													57	34					1.84395e-34	2.91475e-34	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36779654	36779654	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:36779654A>T	ENST00000416516.2	-	2	987	c.497T>A	c.(496-498)aTg>aAg	p.M166K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	166						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						GCCCTTCCCCATATCCAGCTC	0.567000													38	38					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50774206	50774206	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:50774206A>T	ENST00000433963.1	+	12	2247	c.1747A>T	c.(1747-1749)Aag>Tag	p.K583*	USP8_ENST00000396444.3_Nonsense_Mutation_p.K583*|USP8_ENST00000307179.4_Nonsense_Mutation_p.K583*|USP8_ENST00000425032.3_Nonsense_Mutation_p.K506*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	583					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AATACAGAAAAAGTCAACAGG	0.413000													25	44					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21820969	21820969	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:21820969C>G	ENST00000216297.2	-	26	3345	c.3007G>C	c.(3007-3009)Gaa>Caa	p.E1003Q		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1003	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAACGACTTTCTCGGTCCGCT	0.443000													12	119					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555239	44555239	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:44555239G>T	ENST00000330682.2	-	1	1210	c.975C>A	c.(973-975)ggC>ggA	p.G325G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	325	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CAGGCCTGGAGCCCGAGTACA	0.672000													21	877					2.37509e-13	3.03211e-13	1	1	0
ASPM	259266	broad.mit.edu	37	1	197070786	197070786	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:197070786T>A	ENST00000367409.4	-	18	7851	c.7595A>T	c.(7594-7596)cAt>cTt	p.H2532L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2532	IQ 27.				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						CACAGCAGAATGCCATTGTCT	0.343000													14	49					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276896	114276896	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:114276896C>A	ENST00000357077.4	+	38	7175	c.7122C>A	c.(7120-7122)gcC>gcA	p.A2374A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.A2341A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2341					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCCACAGCCACCTCAGACG	0.502000													16	24					1.56452e-12	1.94777e-12	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31323340	31323340	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:31323340G>T	ENST00000269197.5	+	12	3528	c.3528G>T	c.(3526-3528)cgG>cgT	p.R1176R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCCACCTCCGGGAGACCACCA	0.443000													14	30					4.7546e-09	5.59816e-09	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1264140	1264140	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:1264140C>T	ENST00000447027.1	+	31	6097	c.6039C>T	c.(6037-6039)ccC>ccT	p.P2013P	MUC5B_ENST00000529681.1_Silent_p.P2010P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2010	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACACCCTCCTCCACTC	0.662000													38	346					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31876618	31876618	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:31876618C>T	ENST00000253354.1	+	3	348	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	63						extracellular space	lipid binding										CAGTGCCATGCGGGAAAAGCC	0.627000													7	62					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53978010	53978010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:53978010G>T	ENST00000263634.3	-	3	399	c.265C>A	c.(265-267)Caa>Aaa	p.Q89K	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Q127K|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Q16K|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Q16K|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.Q124K	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		124					intracellular signal transduction												CAATGTCCTTGACTTGCAGCG	0.393000													7	34					1.06961e-07	1.22003e-07	1	1	0
XIST	7503	broad.mit.edu	37	X	73071665	73071665	+	RNA	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:73071665T>A	ENST00000429829.1	-	0	923					NR_001564.2																						TGGCGGCCACTTTTCCTCCAC	0.488000													62	15					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	84					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3447026	3447026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:3447026G>T	ENST00000382774.3	+	9	1166	c.1051G>T	c.(1051-1053)Gtg>Ttg	p.V351L	HGFAC_ENST00000511533.1_Missense_Mutation_p.V351L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	351	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGTGCTACGTGGTGAAGGA	0.692000													6	7					0.0293803	0.0299777	1	1	0
TTN	7273	broad.mit.edu	37	2	179614153	179614153	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:179614153C>T	ENST00000360870.5	-	46	13196	c.12974G>A	c.(12973-12975)cGt>cAt	p.R4325H	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	456	Ig-like 23.						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)			AGGTATGCAACGCACCTGCTC	0.408000													16	35					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139895398	139895398	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:139895398C>A	ENST00000303045.6	-	2	464	c.18G>T	c.(16-18)ggG>ggT	p.G6G	COL22A1_ENST00000435777.1_Silent_p.G6G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	6					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACAGCGTTCCCTCGGAGGC	0.667000										HNSCC(7;0.00092)			8	1					6.31663e-08	7.25644e-08	1	1	0
PHF3	23469	broad.mit.edu	37	6	64421154	64421154	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:64421154A>G	ENST00000262043.3	+	15	4233	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	PHF3_ENST00000393387.1_Missense_Mutation_p.Y1298C			Q92576	PHF3_HUMAN	PHD finger protein 3	1298					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGAAAGCGCTATGGAGTAGCT	0.403000													5	31					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206721	142206721	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142206721G>T	ENST00000426318.2	-	0	184																											GTGGCTCCAAGTCTGGTGACA	0.478000													92	110					1.70349e-48	2.89197e-48	1	1	0
C11orf35	256329	broad.mit.edu	37	11	558017	558017	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:558017C>T	ENST00000329451.3	-	5	484	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	141										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGCAGCCGCTCCTCCAG	0.687000													12	63					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33658831	33658831	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:33658831C>A	ENST00000374316.5	+	53	8230	c.7170C>A	c.(7168-7170)ttC>ttA	p.F2390L	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2390L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2390					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTTCCTCTTCCTCAAGGATG	0.582000													48	17					5.12918e-33	8.01309e-33	1	1	0
INTS4	92105	broad.mit.edu	37	11	77635811	77635811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:77635811C>A	ENST00000534064.1	-	12	1533	c.1499G>T	c.(1498-1500)aGg>aTg	p.R500M	INTS4_ENST00000529807.1_Missense_Mutation_p.R500M|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	500					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TATGGAGTCCCTATCAGTAGG	0.378000													7	37					0.000308642	0.000326534	1	1	0
PRF1	5551	broad.mit.edu	37	10	72358332	72358332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:72358332G>T	ENST00000441259.1	-	3	1305	c.1145C>A	c.(1144-1146)cCa>cAa	p.P382Q	PRF1_ENST00000373209.2_Missense_Mutation_p.P382Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	382	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCGCCCTGGTGGGCACGGCCG	0.711000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	6					0.014758	0.0151932	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7682803	7682803	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:7682803C>A	ENST00000446830.2	-	0	420				ITIH5_ENST00000256861.6_Missense_Mutation_p.K105N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K105N|ITIH5_ENST00000397146.2_Missense_Mutation_p.K105N			Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						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						CCTGATACACCTTGTCTCCAA	0.403000													58	65					7.93275e-45	1.32158e-44	1	1	0
TAS2R19	259294	broad.mit.edu	37	12	11174633	11174633	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:11174633T>C	ENST00000390673.2	-	1	586	c.538A>G	c.(538-540)Act>Gct	p.T180A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	180					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCTAGAGTAGTTACAGTCAAG	0.388000													96	58					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29486064	29486064	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:29486064C>G	ENST00000358273.4	+	3	624	c.241C>G	c.(241-243)Ctc>Gtc	p.L81V	NF1_ENST00000431387.4_Missense_Mutation_p.L81V|NF1_ENST00000356175.3_Missense_Mutation_p.L81V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	81					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTTATATCTCTCTCAGTT	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	55					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64483189	64483189	+	Splice_Site	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:64483189A>G	ENST00000357395.3	+	33	4958		c.e33-1		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						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)		TCTTTTTTACAGATTGAAATT	0.259000													5	9					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965971	43965971	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:43965971C>A	ENST00000244333.3	-	5	661	c.573G>T	c.(571-573)cgG>cgT	p.R191R		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	191	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGACACAGCCCCGGACAGGCA	0.562000													16	80					6.49762e-13	8.15248e-13	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95358064	95358064	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:95358064A>C	ENST00000271227.6	+	14	1950	c.1848A>C	c.(1846-1848)caA>caC	p.Q616H	SLC44A3_ENST00000467909.1_Missense_Mutation_p.Q568H|SLC44A3_ENST00000446120.2_Missense_Mutation_p.Q580H|SLC44A3_ENST00000527077.1_Missense_Mutation_p.Q548H|SLC44A3_ENST00000532427.1_Missense_Mutation_p.Q536H|SLC44A3_ENST00000529450.1_Missense_Mutation_p.Q583H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	616						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTATGGATCAAGAATTTCTGG	0.398000													15	77					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273176	125273176	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:125273176G>T	ENST00000335302.5	+	1	96	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCCTGTTCCTGGGCATGTACC	0.592000													93	133					1.29119e-40	2.12464e-40	1	1	0
GTPBP4	23560	broad.mit.edu	37	10	1054920	1054920	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:1054920A>T	ENST00000360803.4	+	11	1218	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V	GTPBP4_ENST00000538293.1_Missense_Mutation_p.E263V|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.E332V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	379					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTCATCCCTGAAGGAGTGGTG	0.493000													8	34					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951409	79951409	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:79951409A>T	ENST00000373275.4	-	27	3365	c.3149T>A	c.(3148-3150)aTt>aAt	p.I1050N	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1050										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATATTTACCAATCTGCCAGTT	0.318000													11	2					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088432	94088432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:94088432C>A	ENST00000553484.1	+	31	5073	c.4919C>A	c.(4918-4920)cCt>cAt	p.P1640H	UNC79_ENST00000256339.4_Missense_Mutation_p.P1441H|UNC79_ENST00000555664.1_Missense_Mutation_p.P1618H|UNC79_ENST00000393151.2_Missense_Mutation_p.P1618H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1618						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						ACCTCGGGGCCTGAAAAACAC	0.478000													56	58					6.8682e-38	1.11193e-37	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62442660	62442660	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:62442660C>T	ENST00000281156.4	-	7	1098	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCGTAGCCATCATCATAACCC	0.378000													11	61					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100732508	100732508	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:100732508G>A	ENST00000360820.2	+	18	2785	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	783	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGACTTCAGGATTCAACATG	0.428000													24	144					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735552	164735552	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:164735552A>T	ENST00000264382.3	-	30	3692	c.3630T>A	c.(3628-3630)caT>caA	p.H1210Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1210	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATCATACTTCATGGTATTGCT	0.328000										HNSCC(35;0.089)			5	16					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566824	142566824	+	Missense_Mutation	SNP	G	G	A	rs146734346		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142566824G>A	ENST00000392957.2	+	16	3168	c.2381G>A	c.(2380-2382)cGc>cAc	p.R794H	EPHB6_ENST00000411471.2_Missense_Mutation_p.R517H|EPHB6_ENST00000442129.1_Missense_Mutation_p.R794H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	794	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCGTCCATCGCTCGCTGTCT	0.637000													28	56					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951407	79951407	+	Splice_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:79951407C>A	ENST00000373275.4	-	27	3367	c.3151_splice	c.e27+1	p.G1051_splice	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1051										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTATATTTACCAATCTGCCAG	0.318000													10	2					5.16669e-11	6.25769e-11	1	1	0
NINL	22981	broad.mit.edu	37	20	25481560	25481560	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:25481560G>A	ENST00000278886.6	-	8	1021	c.948C>T	c.(946-948)gaC>gaT	p.D316D	NINL_ENST00000422516.1_Silent_p.D316D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGAACCATCGTCAATGCTGG	0.582000													7	49					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145815	81145815	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:81145815C>A	ENST00000525539.1	-	0	6935				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCATAAAGCCTGAAATGTCG	0.522000													70	91					3.37413e-40	5.54074e-40	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32475108	32475108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:32475108G>T	ENST00000404025.2	-	5	2313	c.1825C>A	c.(1825-1827)Ctg>Atg	p.L609M	NLRC4_ENST00000402280.1_Missense_Mutation_p.L609M|NLRC4_ENST00000360906.5_Missense_Mutation_p.L609M|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	609					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGAAGTCCAGGGCACTTGCA	0.438000													25	97					4.02929e-09	4.77215e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113303848	113303848	+	Silent	SNP	G	G	A	rs114926522	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:113303848G>A	ENST00000297405.5	-	56	9109	c.8865C>T	c.(8863-8865)taC>taT	p.Y2955Y	CSMD3_ENST00000343508.3_Silent_p.Y2915Y|CSMD3_ENST00000455883.2_Silent_p.Y2786Y|CSMD3_ENST00000352409.3_Silent_p.Y2885Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2955	Sushi 20.					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						CCACAGTGCCGTAAGTAAAAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	102					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711077	11711077	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:11711077C>A	ENST00000262442.3	+	44	8517	c.8449C>A	c.(8449-8451)Ccg>Acg	p.P2817T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2817T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2817	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTGGAGTCCCCGCGGGGAAA	0.517000													13	80					4.7546e-09	5.59816e-09	1	1	0
WARS2	10352	broad.mit.edu	37	1	119575634	119575634	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:119575634T>C	ENST00000235521.4	-	6	1009	c.983A>G	c.(982-984)aAg>aGg	p.K328R	WARS2_ENST00000537870.1_Missense_Mutation_p.K234R|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	328					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TAAATGGTCCTTGTCCAGCTT	0.448000													41	83					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488070	63488070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:63488070G>T	ENST00000377819.5	+	3	2250	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	RTN3_ENST00000339997.4_Missense_Mutation_p.G680V|RTN3_ENST00000540798.1_Missense_Mutation_p.G587V|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	699					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AATGAGTCCGGTGGTTCTGAA	0.373000													18	49					1.56452e-12	1.94777e-12	1	1	0
SPG11	80208	broad.mit.edu	37	15	44914078	44914078	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:44914078G>A	ENST00000261866.7	-	14	2515	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	SPG11_ENST00000535302.2_Silent_p.F833F|SPG11_ENST00000427534.2_Silent_p.F833F|SPG11_ENST00000558319.1_Silent_p.F833F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	833					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATATTTCAGGAATGAGTCCA	0.313000													19	5					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552827	140552827	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140552827G>A	ENST00000231137.3	+	1	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		137					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGACAGAGAGATTTCCTTGA	0.428000													14	56					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779998	142779998	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:142779998G>A	ENST00000343796.2	-	2	1400	c.407C>T	c.(406-408)cCa>cTa	p.P136L	NR3C1_ENST00000503201.1_Missense_Mutation_p.P136L|NR3C1_ENST00000231509.3_Missense_Mutation_p.P136L|NR3C1_ENST00000415690.2_Missense_Mutation_p.P136L|NR3C1_ENST00000394466.2_Missense_Mutation_p.P136L|NR3C1_ENST00000424646.2_Missense_Mutation_p.P136L|NR3C1_ENST00000504572.1_Missense_Mutation_p.P136L|NR3C1_ENST00000394464.2_Missense_Mutation_p.P136L|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	136	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGGGTTCTCTGGAACACTGGT	0.488000													15	62					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729576	89729576	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:89729576G>A	ENST00000343435.5	-	9	1741	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S402L|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	402						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCAATAATCCGAGGATGCTTC	0.393000													17	105					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187195352	187195352	+	Missense_Mutation	SNP	C	C	G	rs143648758		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:187195352C>G	ENST00000403665.2	+	5	760	c.408C>G	c.(406-408)tgC>tgG	p.C136W	F11_ENST00000492972.2_Missense_Mutation_p.C136W|F11_ENST00000264692.4_Intron	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	136	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTCAAGAATGCCAAGAAAGAT	0.478000													40	30					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37657637	37657637	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:37657637A>G	ENST00000447079.4	+	6	2587	c.2554A>G	c.(2554-2556)Aaa>Gaa	p.K852E	CDK12_ENST00000430627.2_Missense_Mutation_p.K852E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	852	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATACTGTCACAAAAAGAATTT	0.378000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			3	68					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34572615	34572615	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:34572615C>T	ENST00000373973.3	+	6	804	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	CNBD2_ENST00000538900.1_Silent_p.L211L|CNBD2_ENST00000349339.1_Silent_p.L211L					cyclic nucleotide binding domain containing 2																		AACGGAGTTCCTGGTTGTTGA	0.493000													25	81					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225975	133225975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:133225975G>A	ENST00000320574.5	-	31	3965	c.3922C>T	c.(3922-3924)Cgg>Tgg	p.R1308W	POLE_ENST00000535270.1_Missense_Mutation_p.R1281W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1308					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGACCATCCCGGATGGCCCCG	0.652000								DNA polymerases (catalytic subunits)					4	59					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074961	9074961	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:9074961A>G	ENST00000397910.4	-	3	12688	c.12485T>C	c.(12484-12486)cTg>cCg	p.L4162P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4164	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						GATAGGTACCAGGGAAGAGGA	0.483000													43	26					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903685	119903685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:119903685G>T	ENST00000313400.4	-	4	1188	c.1088C>A	c.(1087-1089)aCg>aAg	p.T363K	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.T363K|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	363						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						CTCGATGGGCGTGTTAGCGCG	0.587000													21	46					1.36565e-18	1.86499e-18	1	1	0
SLC35B3	51000	broad.mit.edu	37	6	8430378	8430378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:8430378G>A	ENST00000379660.4	-	3	465	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	SLC35B3_ENST00000339306.5_Nonsense_Mutation_p.Q6*|SLC35B3_ENST00000426876.1_Nonsense_Mutation_p.Q72*	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	6					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TCTTTTGCTTGCTGTGTCAAG	0.308000													9	53					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349719	100349719	+	RNA	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:100349719C>T	ENST00000542585.1	+	0	2139				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCACCCCCACTGAGGAG	0.532000													29	19					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107718671	107718671	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:107718671A>G	ENST00000388781.3	-	16	2061	c.1978T>C	c.(1978-1980)Tct>Cct	p.S660P	LAMB4_ENST00000205386.4_Missense_Mutation_p.S660P|LAMB4_ENST00000388780.3_Missense_Mutation_p.S660P|LAMB4_ENST00000414450.2_Missense_Mutation_p.S660P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	660	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGGCAAAAGACTGAGGCTTT	0.483000													4	12					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53276875	53276875	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:53276875A>G	ENST00000566029.1	+	13	3210	c.3001A>G	c.(3001-3003)Agg>Ggg	p.R1001G	CHD9_ENST00000564845.1_Missense_Mutation_p.R1001G|CHD9_ENST00000447540.1_Missense_Mutation_p.R1001G|CHD9_ENST00000398510.3_Missense_Mutation_p.R1001G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1001	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAAGCACATAGGTTAAAAAA	0.338000													32	63					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853053	40853053	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:40853053G>C	ENST00000254691.5	+	3	1818	c.1619G>C	c.(1618-1620)tGg>tCg	p.W540S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	540					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAAAGCTTTTGGACTCAGTTT	0.393000													55	43					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129513959	129513959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:129513959C>A	ENST00000421865.2	+	12	1792	c.1743C>A	c.(1741-1743)agC>agA	p.S581R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	581	Laminin IV type A 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			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)		TGCCGCACAGCTACTACTGGA	0.572000													18	14					4.35082e-09	5.14537e-09	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80418809	80418809	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:80418809G>A	ENST00000265361.3	-	12	1728	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	SEMA3C_ENST00000544525.1_Silent_p.T407T|SEMA3C_ENST00000419255.2_Silent_p.T389T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	389	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTCCTTGGTGGTTCGCATAT	0.373000													11	3					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725948	55725948	+	Missense_Mutation	SNP	G	G	A	rs147833183		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:55725948G>A	ENST00000379906.2	+	5	1157	c.902G>A	c.(901-903)cGc>cAc	p.R301H	SLC6A2_ENST00000561820.1_Missense_Mutation_p.R301H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.R301H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.R196H|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000414754.3_Missense_Mutation_p.R301H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.R301H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	301					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GACTTCTACCGCTTGAAAGAG	0.572000													26	40					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514324	113514324	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:113514324C>A	ENST00000541405.1	-	4	652	c.129G>T	c.(127-129)aaG>aaT	p.K43N	CKAP2L_ENST00000302450.6_Missense_Mutation_p.K208N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	208						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CAGTCTTTGGCTTACTTCTGG	0.358000													11	24					9.31168e-06	1.01044e-05	1	1	0
STK38L	23012	broad.mit.edu	37	12	27475316	27475316	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:27475316T>C	ENST00000389032.3	+	14	1492	c.1323T>C	c.(1321-1323)taT>taC	p.Y441Y	STK38L_ENST00000539577.1_Silent_p.Y348Y	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	441	AGC-kinase C-terminal.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTCTCAATTATACCTATAAAA	0.383000													21	106					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76809462	76809462	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:76809462A>G	ENST00000286719.7	-	6	793	c.437T>C	c.(436-438)gTc>gCc	p.V146A		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	146	Catalytic.				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)			AAGGTTCAAGACGTAGCGAGC	0.463000													9	45					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132437	11132437	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:11132437C>T	ENST00000358026.2	+	19	2937	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R885C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R885C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R885C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R885C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R885C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R885C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R885C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R885C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	885	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R885C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAAGGTCACCGCATGAAGAA	0.622000			"""F, N, Mis"""		NSCLC								13	13					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153429541	153429541	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:153429541A>G	ENST00000436816.1	+	2	478	c.259A>G	c.(259-261)Aat>Gat	p.N87D	MFAP3_ENST00000322602.5_Missense_Mutation_p.N87D|MFAP3_ENST00000439768.2_Intron	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	87	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCATTGGCACAATTCAAAAGG	0.408000													53	27					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838389	20838389	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:20838389C>T	ENST00000402541.1	-	4	444	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	HS1BP3_ENST00000304031.3_Missense_Mutation_p.G144R			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	144					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)					CTGGTGAGCCCTGCAGCCCCT	0.552000													20	14					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113212134	113212134	+	Silent	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:113212134A>C	ENST00000295872.4	-	6	670	c.411T>G	c.(409-411)ccT>ccG	p.P137P		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	137					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAGGAATCAGGAGCCACTG	0.398000													17	22					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308878	248308878	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248308878T>A	ENST00000366476.1	+	1	429	c.429T>A	c.(427-429)ctT>ctA	p.L143L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTTGTGGACTTATGACTGCCT	0.463000													38	262					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645520	70645520	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:70645520T>C	ENST00000298596.6	+	3	2051	c.1968T>C	c.(1966-1968)tgT>tgC	p.C656C	STOX1_ENST00000399169.4_Silent_p.C656C|STOX1_ENST00000421961.2_Silent_p.C546C|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	656						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCTCTGCTTGTAGATTAGTGG	0.453000													41	70					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107841986	107841986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:107841986G>T	ENST00000328300.6	+	25	2078	c.1834G>T	c.(1834-1836)Ggc>Tgc	p.G612C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G612C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	612	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTTTACCAGGCCTCCCAGG	0.493000									Alport syndrome with Diffuse Leiomyomatosis				58	11					5.82089e-37	9.36709e-37	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140767987	140767987	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140767987C>T	ENST00000519479.1	+	1	536	c.536C>T	c.(535-537)tCa>tTa	p.S179L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCATTTCTCACTGATAAAT	0.423000													6	38					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79590499	79590499	+	Splice_Site	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:79590499C>A	ENST00000372391.2	-	10	1886	c.1881_splice	c.e10+1	p.T627_splice	DLG5_ENST00000372388.2_Splice_Site_p.T627_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	627	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGCAGCTTACCGTCTCCCTCT	0.557000													19	43					8.34094e-07	9.23831e-07	1	1	0
CATSPERB	79820	broad.mit.edu	37	14	92083977	92083977	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:92083977T>A	ENST00000256343.3	-	20	2520	c.2364A>T	c.(2362-2364)gtA>gtT	p.V788V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	788					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAATTGTTATTACATAACTGT	0.318000													17	41					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115585262	115585262	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:115585262C>A	ENST00000310836.6	+	3	1456	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	UGT8_ENST00000394511.3_Missense_Mutation_p.L312M	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	312					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGCAGGAGCTCTGGGGAGATT	0.413000													55	33					6.09941e-20	8.50316e-20	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144873939	144873939	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:144873939C>G	ENST00000369359.4	-	34	5464	c.5426G>C	c.(5425-5427)aGc>aCc	p.S1809T	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1673T|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1673T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1629T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1673					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)		GATGGGGTTGCTGTTGGATTC	0.507000			T	PDGFRB	MPD								45	515					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523545	106523545	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:106523545G>A	ENST00000359195.3	+	8	3007	c.2697G>A	c.(2695-2697)acG>acA	p.T899T	PIK3CG_ENST00000496166.1_Silent_p.T899T|PIK3CG_ENST00000440650.2_Silent_p.T899T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	899	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGGCAACACGGGAGCATTTA	0.443000													102	28					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276431	114276431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:114276431G>T	ENST00000357077.4	+	38	6710	c.6657G>T	c.(6655-6657)atG>atT	p.M2219I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2186I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2186					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGCCTGATGGAGGGGACCC	0.512000													37	34					1.07121e-22	1.52244e-22	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166764244	166764244	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:166764244C>A	ENST00000243344.7	-	19	2649	c.2512G>T	c.(2512-2514)Gca>Tca	p.A838S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	838						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAAACTTTTGCTAGAAGAACT	0.358000													9	26					0.000442599	0.000467641	1	1	0
C16orf82	162083	broad.mit.edu	37	16	27078459	27078459	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:27078459G>T	ENST00000505035.1	+	0	432				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			CGCCATGCAGGAGTGGCTCAG	0.597000													9	2					7.03913e-09	8.23968e-09	1	1	0
DDR2	4921	broad.mit.edu	37	1	162729678	162729678	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:162729678A>T	ENST00000367922.2	+	9	1202	c.764A>T	c.(763-765)gAc>gTc	p.D255V	DDR2_ENST00000367921.3_Missense_Mutation_p.D255V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	255					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCCGGCTATGACTATGTGGGC	0.527000													56	76					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39777909	39777909	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:39777909C>G	ENST00000540235.1	-	7	1246	c.1247G>C	c.(1246-1248)cGt>cCt	p.R416P	KRT17_ENST00000311208.8_Missense_Mutation_p.R257P			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATACTGGTCACGCATCTCGTT	0.597000													41	135					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778686	110778686	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:110778686C>T	ENST00000395494.2	+	13	2466	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	ATP2A2_ENST00000539276.2_Missense_Mutation_p.P662S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P662S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	662					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAACTCAACCCCTCCGCCCA	0.552000													8	27					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33677589	33677589	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:33677589T>G	ENST00000321505.4	+	17	5081	c.4901T>G	c.(4900-4902)gTc>gGc	p.V1634G	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1640G					KIAA1549-like																		CCTGAGATGGTCATGGGCTCA	0.527000													4	42					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13368192	13368192	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:13368192A>C	ENST00000360228.5	-	28	4561	c.4562T>G	c.(4561-4563)aTg>aGg	p.M1521R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M1522R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1522					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTATTCCTCCATCATCTTGTC	0.438000													10	10					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364882	13364882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:13364882G>C	ENST00000254508.5	-	34	4777	c.4695C>G	c.(4693-4695)atC>atG	p.I1565M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1565					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)					AGCTGGTCTGGATGGGGTGGA	0.592000													25	44					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	670798	670798	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:670798C>T	ENST00000323274.10	+	5	802	c.663C>T	c.(661-663)ctC>ctT	p.L221L	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.L187L|TYMS_ENST00000323250.5_Silent_p.L138L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	221					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	ACATGGGCCTCGGTGTGCCTT	0.597000													29	188					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839772	19839772	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:19839772G>A	ENST00000405640.1	-	2	681	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.R5W|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.R5W|GNB1L_ENST00000460402.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	5										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGACGGCACCGGCCACGAGGC	0.637000													12	75					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712130	140712130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140712130C>A	ENST00000517417.1	+	1	1879	c.1879C>A	c.(1879-1881)Cgc>Agc	p.R627S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.697000													22	33					6.04164e-23	8.63245e-23	1	1	0
BMP1	649	broad.mit.edu	37	8	22033679	22033679	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:22033679A>T	ENST00000306385.5	+	3	956	c.286A>T	c.(286-288)Agc>Tgc	p.S96C	BMP1_ENST00000397814.3_Missense_Mutation_p.S96C|BMP1_ENST00000397816.3_Missense_Mutation_p.S96C|BMP1_ENST00000306349.8_Missense_Mutation_p.S96C|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000354870.5_Missense_Mutation_p.S96C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	96					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TTCTACCCCCAGCTGCCAGAG	0.567000													11	13					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054514	106054514	+	RNA	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:106054514C>T	ENST00000390539.2	-	0	218																											ACTGTGTGGCCGGCAGGGTCA	0.627000													29	55					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952635	33952635	+	RNA	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:33952635C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GCCACACAGGCGATGCCAGAG	0.652000													7	14					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26720040	26720040	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:26720040C>A	ENST00000396005.3	-	7	1173	c.864G>T	c.(862-864)gtG>gtT	p.V288V	SLC5A12_ENST00000280467.6_Silent_p.V288V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	288					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGACAGCACACACCAGAATGA	0.453000													26	45					1.17739e-12	1.47266e-12	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140372490	140372490	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:140372490C>A	ENST00000406427.1	-	25	3214	c.2878G>T	c.(2878-2880)Gca>Tca	p.A960S	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.A935S|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A541S	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	935	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACTCACCTTGCTCCCCCTCCC	0.682000													3	13					0.184627	0.186485	1	1	0
CRB2	286204	broad.mit.edu	37	9	126125301	126125301	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:126125301C>A	ENST00000373631.3	+	2	253	c.252C>A	c.(250-252)ccC>ccA	p.P84P	CRB2_ENST00000359999.3_Silent_p.P84P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	84	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGTGTGTGCCCCAGGGTCCAG	0.687000													22	38					2.65835e-16	3.54005e-16	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156784802	156784802	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:156784802C>A	ENST00000537611.2	-	2	191	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	49						integral to membrane|plasma membrane		p.G49R(1)									TTGTGTATCCCATGAAAGGAA	0.458000													36	41					3.61848e-18	4.92481e-18	1	1	0
NDST4	64579	broad.mit.edu	37	4	115773888	115773888	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:115773888T>C	ENST00000264363.2	-	8	2487	c.1809A>G	c.(1807-1809)caA>caG	p.Q603Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	603	Heparan sulfate N-sulfotransferase 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)		TACCTGTTTTTTGTGGACCAA	0.313000													4	24					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222922904	222922904	+	Splice_Site	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:222922904G>A	ENST00000445590.2	+	5	605	c.339_splice	c.e5+1	p.K113_splice	FAM177B_ENST00000360827.2_Splice_Site_p.K113_splice	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	113										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TACAAAACAAGGTATGTGACA	0.398000													15	22					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111878996	111878996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:111878996C>T	ENST00000277900.8	+	7	1110	c.745C>T	c.(745-747)Cca>Tca	p.P249S	ADD3_ENST00000360162.3_Missense_Mutation_p.P249S|ADD3_ENST00000356080.4_Missense_Mutation_p.P249S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	249						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGGGATCCTTCCAATTTCTCA	0.403000													24	42					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101044921	101044921	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:101044921G>C	ENST00000394095.2	-	24	3072	c.3019C>G	c.(3019-3021)Cct>Gct	p.P1007A	SENP7_ENST00000394094.2_Missense_Mutation_p.P942A|SENP7_ENST00000394091.1_Missense_Mutation_p.P843A|SENP7_ENST00000348610.3_Missense_Mutation_p.P974A|SENP7_ENST00000358203.3_Missense_Mutation_p.P843A|SENP7_ENST00000314261.7_Missense_Mutation_p.P941A|SENP7_ENST00000394085.3_Missense_Mutation_p.P195A	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1007	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAACAATAGGATCCTAATGA	0.308000													3	10					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040370	16040370	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:16040370C>A	ENST00000326742.7	-	2	241	c.240G>T	c.(238-240)ctG>ctT	p.L80L	CYP4F11_ENST00000402119.3_Silent_p.L80L|CYP4F11_ENST00000248041.7_Silent_p.L80L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	80					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGTGGTCACCAGCTGGGTCA	0.527000													84	49					8.84886e-50	1.50863e-49	1	1	0
ASPH	444	broad.mit.edu	37	8	62430179	62430179	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:62430179C>T	ENST00000541428.1	-	24	2107	c.1947G>A	c.(1945-1947)ccG>ccA	p.P649P	ASPH_ENST00000379454.4_Silent_p.P678P	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	678					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)	GCCCTGTGTGCGGCCACACGT	0.517000													12	127					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632131	169632131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:169632131C>A	ENST00000366787.3	-	14	2344	c.2095G>T	c.(2095-2097)Ggc>Tgc	p.G699C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	699					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGGGCCAGCCGTCCAGGTCC	0.672000													9	43					3.86212e-05	4.14056e-05	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417788	70417788	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:70417788G>A	ENST00000327305.6	-	9	1707	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	NETO1_ENST00000299430.2_Silent_p.S349S|NETO1_ENST00000583169.1_Silent_p.S350S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	350					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCACGATGCAGGAAGTCACGC	0.458000													10	50					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451845	110451845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:110451845G>A	ENST00000260283.4	-	16	2109	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	ARHGAP20_ENST00000357139.3_Nonsense_Mutation_p.Q583*|ARHGAP20_ENST00000528829.1_Nonsense_Mutation_p.Q573*|ARHGAP20_ENST00000529591.1_Nonsense_Mutation_p.Q152*|ARHGAP20_ENST00000533353.1_Nonsense_Mutation_p.Q583*|ARHGAP20_ENST00000527598.1_Nonsense_Mutation_p.Q573*|ARHGAP20_ENST00000524756.1_Nonsense_Mutation_p.Q586*	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGCTCCCCTGGCCAAGTTTC	0.473000													13	123					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389286	1389286	+	Silent	SNP	G	G	C	rs71299249		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:1389286G>C	ENST00000324803.4	+	1	3947	c.987G>C	c.(985-987)gtG>gtC	p.V329V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	329					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATTGTGGAGTGCCCGCCTGCT	0.667000													199	234					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766012	43766012	+	Splice_Site	SNP	G	G	T	rs143780806	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:43766012G>T	ENST00000244293.7	-	3	775	c.709_splice	c.e3+1	p.H237_splice	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Splice_Site_p.H237_splice|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	236					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.522000													48	298					2.23399e-28	3.34059e-28	1	1	0
MTTP	4547	broad.mit.edu	37	4	100510852	100510852	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:100510852A>G	ENST00000457717.1	+	5	702	c.446A>G	c.(445-447)aAg>aGg	p.K149R	MTTP_ENST00000511045.1_Missense_Mutation_p.K176R|MTTP_ENST00000265517.5_Missense_Mutation_p.K149R	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	149	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)	GAAAATATCAAGAGAGGTCTG	0.398000													7	50					0	0	1	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39887527	39887527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:39887527G>T	ENST00000456183.2	+	4	543	c.514G>T	c.(514-516)Ggc>Tgc	p.G172C		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		CCCATCACCAGGCCCAATGAC	0.587000													46	125					8.13855e-26	1.19475e-25	1	1	0
IL18R1	8809	broad.mit.edu	37	2	102992516	102992516	+	Silent	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:102992516A>T	ENST00000409599.1	+	6	974	c.618A>T	c.(616-618)atA>atT	p.I206I	IL18R1_ENST00000233957.1_Silent_p.I206I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	206	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATATAACAATAGTGGAAGGTA	0.348000													9	40					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048542	6048542	+	Silent	SNP	C	C	T	rs142504414		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6048542C>T	ENST00000316650.5	-	1	429	c.393G>A	c.(391-393)gtG>gtA	p.V131V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGATGGCCACATAACGGT	0.512000													62	50					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865127	148865127	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:148865127G>T	ENST00000367467.3	+	18	2996	c.2521G>T	c.(2521-2523)Gat>Tat	p.D841Y		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	841							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCATTCCCTGGATGACCTTCA	0.587000													19	132					2.52088e-20	3.52046e-20	1	1	0
SH3D21	79729	broad.mit.edu	37	1	36785482	36785482	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:36785482G>T	ENST00000453908.2	+	14	1246	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	SH3D21_ENST00000426732.2_Missense_Mutation_p.K290N|SH3D21_ENST00000312808.4_Missense_Mutation_p.K52N|SH3D21_ENST00000505871.1_Missense_Mutation_p.K295N	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	290										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCTCGGGGAAGATCCCAGCTC	0.582000													20	23					5.68826e-28	8.49011e-28	1	1	0
DTX4	23220	broad.mit.edu	37	11	58972195	58972195	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:58972195C>A	ENST00000227451.3	+	9	1777	c.1673C>A	c.(1672-1674)gCc>gAc	p.A558D	DTX4_ENST00000532982.1_Missense_Mutation_p.A452D	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	558					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTCATTTTTGCCATTGGCACC	0.527000													4	15					0.150653	0.152361	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196197403	196197403	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:196197403C>G	ENST00000367433.5	-	27	3388	c.3287G>C	c.(3286-3288)aGc>aCc	p.S1096T	KCNT2_ENST00000294725.8_Missense_Mutation_p.S1120T|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S1054T|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1120						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGCAGATGCTGTTTCTTCG	0.368000													18	23					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877572	82877572	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:82877572A>C	ENST00000298281.4	+	5	2085	c.1633A>C	c.(1633-1635)Aag>Cag	p.K545Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	545					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CAGAAATGCTAAGAGAAGTAC	0.433000													21	63					0	0	1	0	0
DKFZp434L192	222029	broad.mit.edu	37	7	56564250	56564250	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:56564250C>A	ENST00000566570.1	+	0	3434					NR_026929.1																						AGGGCACAGACAGGGGGAGCT	0.617000													2	1					1	1	1	1	0
OSBPL3	26031	broad.mit.edu	37	7	24874121	24874121	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:24874121C>T	ENST00000313367.2	-	15	2181	c.1730G>A	c.(1729-1731)aGc>aAc	p.S577N	OSBPL3_ENST00000431825.2_Missense_Mutation_p.S510N|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S541N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S546N|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S541N|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S510N|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S546N	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	577					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCCAGGGGGCTGGGAATCTG	0.647000													16	68					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5466469	5466469	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:5466469A>G	ENST00000296564.7	+	14	6137	c.5915A>G	c.(5914-5916)cAc>cGc	p.H1972R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1972										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						TGCTTGCTTCACTCTATTCTC	0.378000													4	28					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176452	176452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:176452C>A	ENST00000538872.1	+	1	522	c.404C>A	c.(403-405)cCc>cAc	p.P135H	IQSEC3_ENST00000326261.4_Missense_Mutation_p.P135H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	135					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)		GCTCACACACCCCAGTCGCCC	0.716000													8	7					1.61879e-10	1.94013e-10	1	1	0
NNT	23530	broad.mit.edu	37	5	43644344	43644344	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:43644344G>C	ENST00000264663.5	+	8	1236	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	NNT_ENST00000512996.2_Missense_Mutation_p.E208Q|NNT_ENST00000344920.4_Missense_Mutation_p.E339Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	339					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTCAATGAAGGAAGGTTCAGT	0.348000													30	25					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954689	33954689	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:33954689C>A	ENST00000389232.4	+	35	5028	c.4958C>A	c.(4957-4959)cCt>cAt	p.P1653H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1653H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1653	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGGACTGCCTGGGGTGGGC	0.552000													26	11					4.7796e-09	5.61936e-09	1	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496675	20496675	+	RNA	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:20496675G>C	ENST00000555186.1	+	0	728					NR_038836.1																						TGTGTGTGCTGCTGTGTTGTG	0.438000													11	53					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96281785	96281785	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:96281785C>A	ENST00000225235.4	+	10	1945	c.1835C>A	c.(1834-1836)gCc>gAc	p.A612D	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	612	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ATCGCATTTGCCAATCTCCTG	0.418000													23	66					6.12954e-19	8.42811e-19	1	1	0
QARS	5859	broad.mit.edu	37	3	49141299	49141299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:49141299C>A	ENST00000306125.6	-	3	709	c.372G>T	c.(370-372)gaG>gaT	p.E124D	QARS_ENST00000414533.1_Missense_Mutation_p.E113D|QARS_ENST00000420147.2_Missense_Mutation_p.E142D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	124					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GACTCACAGCCTCCTCAATCT	0.587000													11	53					1.05317e-09	1.24918e-09	1	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766667	171766667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:171766667C>A	ENST00000311601.5	-	13	1612	c.1442G>T	c.(1441-1443)gGg>gTg	p.G481V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	481					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATGGCAACCCCGAGTCCAT	0.627000													8	24					2.17888e-05	2.34851e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62291345	62291345	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:62291345G>A	ENST00000378024.4	-	5	10818	c.10544C>T	c.(10543-10545)cCa>cTa	p.P3515L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3515					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTGAGATCTGGGCCCTCAAT	0.478000													14	86					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33246117	33246117	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:33246117G>T	ENST00000270112.2	+	1	490	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	44					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GGTGAGCGGCGTGCCCCGCGA	0.756000													8	8					1.05317e-09	1.24918e-09	1	1	0
FAHD2B	151313	broad.mit.edu	37	2	97757243	97757243	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:97757243C>A	ENST00000414820.1	-	3	471	c.201G>T	c.(199-201)acG>acT	p.T67T	FAHD2B_ENST00000272610.3_Silent_p.T67T|FAHD2B_ENST00000440566.2_Silent_p.T67T|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	67							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CTAGGAACTGCGTCATCGTCT	0.607000													9	28					1.76689e-08	2.06223e-08	1	1	0
PADI1	29943	broad.mit.edu	37	1	17531735	17531735	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:17531735A>G	ENST00000375471.4	+	1	115	c.23A>G	c.(22-24)cAg>cGg	p.Q8R		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	8					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGAGTTGTGCAGCTGTCCCTG	0.607000													29	20					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153135082	153135082	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:153135082C>T	ENST00000370060.1	-	11	1349	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	L1CAM_ENST00000361981.3_Missense_Mutation_p.G382D|L1CAM_ENST00000543994.1_Missense_Mutation_p.G389D|L1CAM_ENST00000538883.1_Missense_Mutation_p.G389D|L1CAM_ENST00000370055.1_Missense_Mutation_p.G382D|L1CAM_ENST00000370057.3_Missense_Mutation_p.G387D|L1CAM_ENST00000361699.4_Missense_Mutation_p.G387D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	387	Ig-like C2-type 4.				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)					GATCAGGGCGCCACGCTGAAT	0.622000													7	4					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542948	14542948	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:14542948G>A	ENST00000358970.5	-	1	197	c.198C>T	c.(196-198)caC>caT	p.H66H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	66			H -> R (in dbSNP:rs9807555).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGAAGCAGTGGTGGCAACACT	0.577000													79	363					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477611	25477611	+	RNA	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:25477611G>A	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						ATTACGCTGAGGCCCAGCCTA	0.517000													85	169					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001795	90001795	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:90001795G>T	ENST00000304984.5	+	3	3015	c.720G>T	c.(718-720)acG>acT	p.T240T	TUBB3_ENST00000556922.1_Silent_p.T659T|TUBB3_ENST00000554444.1_Silent_p.T240T|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Silent_p.T312T			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	312					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTACCTGACGGTGGCCACCG	0.642000													52	67					1.64573e-32	2.56109e-32	1	1	0
RAG1	5896	broad.mit.edu	37	11	36596655	36596655	+	Missense_Mutation	SNP	T	T	C	rs145951370		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:36596655T>C	ENST00000299440.5	+	2	1913	c.1801T>C	c.(1801-1803)Tct>Cct	p.S601P		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	601					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGTGAAGGAGTCTTGTGATGG	0.463000									Familial Hemophagocytic Lymphohistiocytosis				24	33					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124415091	124415091	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:124415091T>A	ENST00000360013.3	+	54	7815	c.7688T>A	c.(7687-7689)gTc>gAc	p.V2563D	KALRN_ENST00000291478.4_Missense_Mutation_p.V866D|KALRN_ENST00000428018.2_Missense_Mutation_p.V834D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2562	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCAACAGTCAAAGTGCAA	0.428000													16	28					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39577837	39577837	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:39577837C>A	ENST00000225550.3	-	6	1022	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	341	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCAGACAGTCCTTCTGTAATG	0.493000													13	31					0.0242445	0.0248321	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2949118	2949118	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:2949118G>A	ENST00000520002.1	-	49	7763	c.7208C>T	c.(7207-7209)aCa>aTa	p.T2403I	CSMD1_ENST00000602723.1_Missense_Mutation_p.T2403I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2403I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2402I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2402I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2403I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2403	CUB 14.					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)		ACTCCTGCTTGTAAAATTTGA	0.393000													4	13					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70371085	70371085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:70371085G>T	ENST00000377844.4	-	7	2183	c.1424C>A	c.(1423-1425)aCt>aAt	p.T475N	KLHL1_ENST00000545028.1_Missense_Mutation_p.T282N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	475					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTCTCTATAGTTGTAGCTCC	0.393000													39	40					2.35968e-33	3.70083e-33	1	1	0
GAB2	9846	broad.mit.edu	37	11	77937815	77937815	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:77937815G>T	ENST00000361507.4	-	4	988	c.903C>A	c.(901-903)acC>acA	p.T301T	GAB2_ENST00000340149.2_Silent_p.T263T	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	301					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCCTGCACAGGGTGTTGCTGG	0.582000													30	37					2.08457e-15	2.73962e-15	1	1	0
KRT25	147183	broad.mit.edu	37	17	38906777	38906777	+	Missense_Mutation	SNP	G	G	T	rs145861447		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:38906777G>T	ENST00000312150.4	-	6	1090	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	344	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCCCCGATCTGAGCCTGGATC	0.577000													75	195					3.27315e-48	5.52172e-48	1	1	0
THAP6	152815	broad.mit.edu	37	4	76447004	76447004	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:76447004C>T	ENST00000311638.3	+	4	415	c.347C>T	c.(346-348)aCt>aTt	p.T116I	THAP6_ENST00000514480.1_Missense_Mutation_p.T116I|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000508105.1_Missense_Mutation_p.T75I|THAP6_ENST00000507556.1_Missense_Mutation_p.T116I|THAP6_ENST00000507885.1_Missense_Mutation_p.T75I|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000502620.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	116						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTTCCAGCCACTAACTACAAT	0.343000													69	58					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121951131	121951131	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:121951131C>A	ENST00000377069.4	-	10	1435	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	KDM2B_ENST00000377071.4_Silent_p.V374V|KDM2B_ENST00000538046.2_Silent_p.V284V|KDM2B_ENST00000536437.1_Silent_p.V257V	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	374	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCGCTGGGTCACACAGTACA	0.572000													11	81					0.00136819	0.00143992	1	1	0
IGHV2-70	28454	broad.mit.edu	37	14	107178879	107178879	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:107178879C>A	ENST00000390634.2	-	0	373																											ATTGTAAGGACCACCTGGTTT	0.507000													100	103					3.20437e-51	5.47469e-51	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681719	55681719	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:55681719G>C	ENST00000344514.1	-	1	339	c.340C>G	c.(340-342)Ctg>Gtg	p.L114V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTGACAGCAGTAGACACTCA	0.463000													49	43					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862983	10862983	+	RNA	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:10862983A>C	ENST00000559480.1	+	0	279																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CCAGGGACACATCCATGAGCA	0.507000													93	391					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100137409	100137409	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:100137409C>T	ENST00000394897.1	-	2	111	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	ADH6_ENST00000237653.7_Missense_Mutation_p.C10Y|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.C10Y			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	10					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GGCTGCTTTGCATCTGATGAC	0.413000													27	22					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126137525	126137525	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:126137525C>T	ENST00000332118.6	-	3	438	c.284G>A	c.(283-285)cGc>cAc	p.R95H	SRPR_ENST00000532259.1_Missense_Mutation_p.R67H|SRPR_ENST00000530680.1_5'UTR	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	95					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GATCTCTGTGCGGTACTTGTC	0.443000													19	79					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389319	9389319	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:9389319C>T	ENST00000378501.2	+	19	1808	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.S598L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S610L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S598L|PLCB4_ENST00000278655.4_Missense_Mutation_p.S598L|PLCB4_ENST00000378473.3_Missense_Mutation_p.S610L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	598	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTAATGAATCAGTCGGTCTT	0.383000													26	16					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688854	26688854	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:26688854G>T	ENST00000529632.2	+	2	773	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V193F|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V193F|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V193F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V193F	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	193						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGAGAGTGCGGTCCCTACAAC	0.672000													83	39					2.25052e-35	3.57855e-35	1	1	0
MLLT6	4302	broad.mit.edu	37	17	36874166	36874166	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:36874166C>T	ENST00000325718.7	+	12	1993	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	634					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCATGGGTGCCGTTAATCCCC	0.552000			T	MLL	AL								26	131					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327582	57327582	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:57327582C>A	ENST00000326441.9	-	10	2591	c.2228G>T	c.(2227-2229)aGt>aTt	p.S743I	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S743I|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S619I|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S617I|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	743					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)		GTCCTCATCACTTTCAAGAGG	0.413000													17	85					2.94398e-08	3.41621e-08	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165173254	165173254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:165173254G>T	ENST00000342310.3	-	9	1394	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.L338M|LMX1A_ENST00000294816.2_Missense_Mutation_p.L338M	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	338						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCGCTATCCAGGTCATGGAAA	0.507000													25	41					2.4375e-19	3.36308e-19	1	1	0
RGS7	6000	broad.mit.edu	37	1	241099947	241099947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:241099947C>A	ENST00000366565.1	-	5	667	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.D96Y|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.D12Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D96Y|RGS7_ENST00000407727.1_Missense_Mutation_p.D96Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D70Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D96Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	96	DEP.				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)			AGGACATGATCTGAGATTGGA	0.393000													11	68					0.00400662	0.00419468	1	1	0
SBF2	81846	broad.mit.edu	37	11	9990005	9990005	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:9990005C>A	ENST00000256190.8	-	14	1620	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	495					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)		TCATTAATCTCTGGGAAAGGA	0.428000													86	113					1.7318e-42	2.86729e-42	1	1	0
MDN1	23195	broad.mit.edu	37	6	90458990	90458990	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:90458990C>T	ENST00000369393.3	-	26	3829	c.3714G>A	c.(3712-3714)ttG>ttA	p.L1238L	MDN1_ENST00000428876.1_Silent_p.L1238L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1238					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)		AGGAGGGTGGCAAACTACACC	0.413000													13	48					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101804	58101804	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:58101804A>T	ENST00000597850.1	+	4	840	c.625A>T	c.(625-627)Agt>Tgt	p.S209C	ZIK1_ENST00000536878.2_Missense_Mutation_p.S196C|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.S154C	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGTCAAAAAAGTCATTACAA	0.483000													23	51					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446740	226446740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:226446740C>A	ENST00000272907.6	+	4	1020	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	203																	GAACACTCAGCTGAGCACATC	0.537000													30	107					6.02846e-25	8.81758e-25	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	52907310	52907310	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:52907310C>A	ENST00000281741.4	-	19	2346	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	659					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTAAATGAATCCAAGTATTTC	0.289000													21	16					7.88262e-20	1.09511e-19	1	1	0
FLG2	388698	broad.mit.edu	37	1	152328989	152328989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:152328989G>T	ENST00000388718.5	-	3	1345	c.1273C>A	c.(1273-1275)Cag>Aag	p.Q425K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	425	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGTAGACTGACTTGAACCA	0.428000													19	156					3.28513e-13	4.14773e-13	1	1	0
IL7R	3575	broad.mit.edu	37	5	35871288	35871288	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:35871288C>A	ENST00000303115.3	+	4	639	c.510C>A	c.(508-510)cgC>cgA	p.R170R	IL7R_ENST00000343305.4_Silent_p.R170R|IL7R_ENST00000506850.1_Silent_p.R170R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	170	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGCTTACCGCCAGGAAAAGG	0.348000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						3	30					0.004672	0.00485332	1	1	0
SPEG	10290	broad.mit.edu	37	2	220348588	220348588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:220348588G>T	ENST00000312358.7	+	30	6535	c.6403G>T	c.(6403-6405)Gag>Tag	p.E2135*	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2135					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCCAGGGTGAGGCGGAgcc	0.731000													3	6					0.004672	0.00485332	1	1	0
SLC35A5	55032	broad.mit.edu	37	3	112299448	112299448	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:112299448G>T	ENST00000492406.1	+	6	767	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	162						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TTTGTCTATTGTGGCCTTGAC	0.443000													8	22					4.68919e-08	5.41787e-08	1	1	0
AP3M2	10947	broad.mit.edu	37	8	42025240	42025240	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:42025240G>T	ENST00000518421.1	+	9	1359	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	AP3M2_ENST00000520685.1_3'UTR|AP3M2_ENST00000396926.3_Silent_p.G356G|AP3M2_ENST00000174653.3_Silent_p.G356G	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	356	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GTTTGAAGGGGACCATGAGTC	0.413000													53	129					4.09106e-26	6.01671e-26	1	1	0
TCTEX1D2	255758	broad.mit.edu	37	3	196043063	196043063	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:196043063C>A	ENST00000325318.5	-	2	288	c.153G>T	c.(151-153)gtG>gtT	p.V51V		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	51							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCCTTGAGCACAGCATGGA	0.403000													10	25					0.000308642	0.000326534	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55441868	55441868	+	Splice_Site	SNP	G	G	A	rs145163808		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:55441868G>A	ENST00000588756.1	-	11	3295	c.2810_splice	c.e11+1	p.R937_splice	NLRP7_ENST00000340844.2_Splice_Site_p.R937_splice|NLRP7_ENST00000328092.5_Splice_Site_p.R909_splice|NLRP7_ENST00000592784.1_Splice_Site_p.R937_splice|NLRP7_ENST00000448121.2_Splice_Site_p.R909_splice|NLRP7_ENST00000446217.1_Splice_Site_p.R965_splice|NLRP7_ENST00000590030.1_Splice_Site_p.R937_splice			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	937							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		aTCGCCTACCGTAGGTGTTTT	0.473000													26	17					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075673	145075673	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:145075673C>T	ENST00000369359.4	-	1	228	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A64T|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.A64T|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.A64T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		TCCTCCTCGGCCGCTGCTGCC	0.716000			T	PDGFRB	MPD								16	90					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843175	137843175	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:137843175C>A	ENST00000236709.3	-	3	1155	c.954G>T	c.(952-954)agG>agT	p.R318S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	318					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CCCTGTAAGTCCTGGGACAGT	0.527000													14	56					2.5808e-16	3.44249e-16	1	1	0
GLRA1	2741	broad.mit.edu	37	5	151208624	151208624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:151208624G>A	ENST00000274576.4	-	8	1209	c.917C>T	c.(916-918)tCc>tTc	p.S306F	GLRA1_ENST00000455880.2_Missense_Mutation_p.S306F|GLRA1_ENST00000545569.1_Missense_Mutation_p.S223F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	306					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTCACATAGGACACCTAGAG	0.463000													11	73					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813771	248813771	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248813771T>A	ENST00000344889.3	-	1	414	c.415A>T	c.(415-417)Aag>Tag	p.K139*		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCAGATCTTGCGGCTCATG	0.567000													25	93					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94476463	94476463	+	Silent	SNP	C	C	G	rs146423792	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:94476463C>G	ENST00000370225.3	-	40	5693	c.5607G>C	c.(5605-5607)ccG>ccC	p.P1869P	ABCA4_ENST00000536513.1_Silent_p.P139P|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1869					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCAGTGGAACGGATTTGCAG	0.592000													16	41					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	250441	250441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:250441G>C	ENST00000538872.1	+	5	2261	c.2143G>C	c.(2143-2145)Gac>Cac	p.D715H	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.D715H|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D412H			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	715	SEC7.				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)		GTTCAACCGCGACGTGCTGGA	0.617000													10	32					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234457	21234457	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:21234457G>T	ENST00000233242.1	-	26	5410	c.5283C>A	c.(5281-5283)ggC>ggA	p.G1761G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1761					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)	CCAGTGATAAGCCTGCAATGT	0.383000													56	73					1.08141e-31	1.66673e-31	1	1	0
KDM4C	23081	broad.mit.edu	37	9	6805754	6805754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:6805754G>T	ENST00000381309.3	+	3	865	c.300G>T	c.(298-300)agG>agT	p.R100S	KDM4C_ENST00000543771.1_Missense_Mutation_p.R100S|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.R122S|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.R100S|KDM4C_ENST00000401787.3_Missense_Mutation_p.R100S|KDM4C_ENST00000489243.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	100					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGGAGTTCAGGCAGCTGGCCA	0.433000													28	52					3.11337e-16	4.13914e-16	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495227	6495227	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:6495227G>A	ENST00000264071.2	-	4	1654	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A428V			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	428					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CTCGGCCGTGGCGTCCTGGTA	0.622000													59	35					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429267	48429267	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:48429267A>T	ENST00000224605.2	-	2	884	c.619T>A	c.(619-621)Tcc>Acc	p.S207T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	207					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						ACGATGGGGGAGATGTCCTTG	0.731000													6	13					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137686423	137686423	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:137686423C>A	ENST00000330387.6	-	1	380	c.29G>T	c.(28-30)gGc>gTc	p.G10V	CREB3L2_ENST00000452463.1_Missense_Mutation_p.G10V|CREB3L2_ENST00000456390.1_Missense_Mutation_p.G10V|CREB3L2_ENST00000468127.1_5'UTR	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	10					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGCAGCACGCCCTGCTCCCC	0.731000			T	FUS	fibromyxoid sarcoma								28	38					1.07121e-22	1.52244e-22	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102463603	102463603	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:102463603C>G	ENST00000360184.4	+	16	3960	c.3796C>G	c.(3796-3798)Cct>Gct	p.P1266A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1266	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGACCAAGCCTGTCACGGT	0.572000													13	46					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160690696	160690696	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:160690696C>T	ENST00000263636.4	-	27	3727	c.3700G>A	c.(3700-3702)Gtt>Att	p.V1234I	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.V1234I|LY75_ENST00000554112.1_Missense_Mutation_p.V1234I|LY75_ENST00000553424.1_Missense_Mutation_p.V1234I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.V1234I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACACTGTCAACTGGTTTGACC	0.338000													15	58					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221436	43221436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:43221436C>A	ENST00000422911.1	-	25	3662	c.3561G>T	c.(3559-3561)caG>caT	p.Q1187H	PRDM15_ENST00000538201.1_Missense_Mutation_p.Q1150H|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.Q1167H|PRDM15_ENST00000269844.3_Missense_Mutation_p.Q1496H|PRDM15_ENST00000447207.2_Missense_Mutation_p.Q1130H			P57071	PRD15_HUMAN	PR domain containing 15	1496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTGCTCCGCCTGCACCTGGG	0.642000													63	17					2.93687e-30	4.48348e-30	1	1	0
ITGA3	3675	broad.mit.edu	37	17	48153048	48153048	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:48153048C>T	ENST00000320031.8	+	12	1953	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.G541G	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	541					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCTTCCACGGCTTCTTCTCCA	0.657000													10	69					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428208	26428208	+	RNA	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:26428208G>T	ENST00000466808.2	+	0	1177																											ATCTCCAAAAGGAAAAAAAAG	0.413000													29	11					2.08457e-15	2.73962e-15	1	1	0
PSG11	5680	broad.mit.edu	37	19	43519464	43519464	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:43519464G>T	ENST00000401740.1	-	4	871	c.768C>A	c.(766-768)aaC>aaA	p.N256K	PSG11_ENST00000320078.7_Missense_Mutation_p.N256K|PSG11_ENST00000403486.1_Missense_Mutation_p.N134K|PSG11_ENST00000306322.7_Missense_Mutation_p.N134K			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACAAGTCGAGGTTCTCTCCTG	0.458000													58	53					1.00798e-23	1.45056e-23	1	1	0
CCDC88B	283234	broad.mit.edu	37	11	64121277	64121277	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:64121277C>A	ENST00000301897.4	+	10	2292	c.80C>A	c.(79-81)cCc>cAc	p.P27H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.P460P|CCDC88B_ENST00000356786.5_Silent_p.P1308P			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	432					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCCCCTGCCCCGGACCAAGT	0.652000													47	142					9.57592e-29	1.4346e-28	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10388993	10388993	+	Missense_Mutation	SNP	C	C	G	rs145078199	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:10388993C>G	ENST00000328655.3	+	3	576	c.536C>G	c.(535-537)aCg>aGg	p.T179R	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.T179R	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	179	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGCCTCCCCACGCAGCCCGGC	0.587000													28	24					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127251720	127251720	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:127251720C>A	ENST00000341640.2	-	8	963	c.758G>T	c.(757-759)gGc>gTc	p.G253V	PAX4_ENST00000463946.1_Missense_Mutation_p.G251V|PAX4_ENST00000378740.2_Missense_Mutation_p.G253V|PAX4_ENST00000338516.3_Missense_Mutation_p.W242C	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	261					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGCACACTGCCAGGGGACTG	0.577000													18	15					3.32936e-07	3.74436e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766244	57766244	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:57766244C>A	ENST00000371030.2	+	1	170	c.170C>A	c.(169-171)gCc>gAc	p.A57D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	57	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCCTGAAGGCCCTGCCCATC	0.711000													19	16					4.72057e-08	5.43848e-08	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140799152	140799152	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140799152G>C	ENST00000398594.2	+	1	1726	c.1726G>C	c.(1726-1728)Gac>Cac	p.D576H	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTCTTCGACACAGTGCC	0.692000													6	25					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412824	158412824	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:158412824G>A	ENST00000243349.7	-	3	685	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.L59F|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	109					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGGGTCCAAGTTTTGGGGCA	0.438000													18	45					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16996413	16996413	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:16996413T>C	ENST00000377833.4	-	32	4895	c.4830A>G	c.(4828-4830)agA>agG	p.R1610R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1610	CUB 10.				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)	CTCGGAAGCCTCTGTTCTGTC	0.522000													101	64					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616235	25616235	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:25616235A>T	ENST00000232165.3	-	6	1742	c.1086T>A	c.(1084-1086)gaT>gaA	p.D362E	UBE3A_ENST00000428984.2_Missense_Mutation_p.D342E|UBE3A_ENST00000397954.2_Missense_Mutation_p.D365E|UBE3A_ENST00000438097.1_Missense_Mutation_p.D342E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.D342E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	365					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CAATGGCATCATCATCATTCA	0.378000													85	42					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048541	6048541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6048541C>A	ENST00000316650.5	-	1	430	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGATGGCCACATAACGG	0.512000													63	49					3.61678e-42	5.97587e-42	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97318750	97318750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:97318750C>A	ENST00000517309.1	+	8	1299	c.973C>A	c.(973-975)Ctc>Atc	p.L325I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.L179I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.L122I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	325					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)	GGGTAGAATTCTCTTTATTGG	0.408000													21	286					3.28513e-13	4.14773e-13	1	1	0
MAATS1	89876	broad.mit.edu	37	3	119445024	119445024	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:119445024G>C	ENST00000273390.5	+	7	766	c.689G>C	c.(688-690)gGt>gCt	p.G230A		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GCAGGTCGGGGTCTCCCAGCA	0.542000													7	18					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44507927	44507927	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:44507927C>T	ENST00000260649.6	+	2	579	c.503C>T	c.(502-504)tCg>tTg	p.S168L	SLC3A1_ENST00000410056.3_Missense_Mutation_p.S168L|SLC3A1_ENST00000409741.1_Missense_Mutation_p.S168L|SLC3A1_ENST00000409229.3_Missense_Mutation_p.S168L|SLC3A1_ENST00000409387.1_Missense_Mutation_p.S168L	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	168					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTTATAAATCGTCCCTTAAA	0.333000													12	23					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133885450	133885450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:133885450G>T	ENST00000220616.4	+	5	662	c.622G>T	c.(622-624)Gtc>Ttc	p.V208F	TG_ENST00000377869.1_Missense_Mutation_p.V208F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	208	Thyroglobulin type-1 3.				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)		TTTTGATCTGGTCCACAGCTA	0.552000													31	25					3.33393e-15	4.35309e-15	1	1	0
ITGA2B	3674	broad.mit.edu	37	17	42452083	42452083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:42452083C>A	ENST00000262407.5	-	28	2918	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	963					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AGGGAGGACACGTTGAACCAT	0.612000													13	61					0.0285812	0.0292366	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113267588	113267588	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:113267588A>G	ENST00000297405.5	-	62	10175	c.9931T>C	c.(9931-9933)Tca>Cca	p.S3311P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3271P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3142P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3241P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3311	Sushi 26.					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						GAAACCTCTGACTGGTATATA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	41					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711005	140711005	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140711005C>A	ENST00000517417.1	+	1	754	c.754C>A	c.(754-756)Ccc>Acc	p.P252T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P252T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAAATGTCCCCGAAAACGT	0.483000													29	33					4.3949e-29	6.62121e-29	1	1	0
PCNX	22990	broad.mit.edu	37	14	71444205	71444205	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:71444205G>T	ENST00000304743.2	+	6	1597	c.1151G>T	c.(1150-1152)aGc>aTc	p.S384I	PCNX_ENST00000238570.5_Missense_Mutation_p.S384I|PCNX_ENST00000439984.3_Missense_Mutation_p.S384I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	384						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)		TCAACAGAAAGCTACTGCAGT	0.502000													63	20					8.83742e-36	1.41363e-35	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32157092	32157092	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:32157092G>A	ENST00000373672.3	-	19	1840	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	COL16A1_ENST00000271069.6_Missense_Mutation_p.P442S|COL16A1_ENST00000373668.3_Missense_Mutation_p.P442S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	442	Triple-helical region 9 (COL9) with 3 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)		AGCCCCTCAGGCCCAACAAAG	0.662000													8	29					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													6	38					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563949	140563949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140563949G>T	ENST00000361016.2	+	1	2970	c.1815G>T	c.(1813-1815)caG>caT	p.Q605H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		605	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGTACCAGCTGCTCAAGG	0.706000													77	29					9.27813e-46	1.55215e-45	1	1	0
TCTEX1D2	255758	broad.mit.edu	37	3	196033854	196033854	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:196033854C>A	ENST00000325318.5	-	3	412	c.277G>T	c.(277-279)Gtg>Ttg	p.V93L		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	93							protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACTACTTGCACCACCATTTTG	0.328000													10	75					2.23348e-06	2.4602e-06	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55145102	55145102	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:55145102C>A	ENST00000396331.1	+	9	1632	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G	LILRB1_ENST00000396315.1_Silent_p.G425G|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Silent_p.G425G|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Silent_p.G425G|LILRB1_ENST00000396332.4_Silent_p.G425G|LILRB1_ENST00000427581.2_Silent_p.G461G|LILRB1_ENST00000448689.1_Silent_p.G425G|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000324602.7_Silent_p.G425G|LILRB1_ENST00000396321.2_Silent_p.G425G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	425					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTCTGGGGGCCCCAGCTCCC	0.607000										HNSCC(37;0.09)			11	12					4.7546e-09	5.59816e-09	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145947275	145947275	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:145947275C>A	ENST00000292562.7	-	5	2045	c.1770G>T	c.(1768-1770)ggG>ggT	p.G590G	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGGCTTTTCCCCAGCATGCA	0.433000													13	69					4.3838e-07	4.89596e-07	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44674612	44674612	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:44674612C>G	ENST00000454036.1	+	13	1810	c.1734C>G	c.(1732-1734)gaC>gaG	p.D578E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D555E|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	578					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCCCTCGACGAGGTGGCCC	0.597000													54	225					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124953171	124953171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:124953171C>A	ENST00000360647.4	-	8	1155	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ZNF148_ENST00000485866.1_Nonsense_Mutation_p.E224*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Nonsense_Mutation_p.E19*|ZNF148_ENST00000468369.1_Nonsense_Mutation_p.E32*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.E224*|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.E224*	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	224					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AATGGTTTTTCACCTAGCACA	0.299000													12	65					7.93312e-07	8.81092e-07	1	1	0
MYH1	4619	broad.mit.edu	37	17	10402041	10402041	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:10402041T>C	ENST00000226207.5	-	30	4177	c.4083A>G	c.(4081-4083)ctA>ctG	p.L1361L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1361						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGCTCTCTGTAGCTCGGCCT	0.592000													96	33					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500121	48500121	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:48500121T>A	ENST00000396577.3	+	2	420	c.205T>A	c.(205-207)Tgc>Agc	p.C69S	SLC12A1_ENST00000561031.1_Missense_Mutation_p.C69S|SLC12A1_ENST00000558405.1_Missense_Mutation_p.C69S|SLC12A1_ENST00000380993.3_Missense_Mutation_p.C69S|SLC12A1_ENST00000330289.6_Missense_Mutation_p.C69S	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	69					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAATCAGGAGTGCTATGACAA	0.413000													15	28					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383177	22383177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr15:22383177G>T	ENST00000328795.4	+	1	796	c.705G>T	c.(703-705)aaG>aaT	p.K235N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		GGAAGAACAAGGCCATGTCCA	0.502000													32	116					8.4185e-14	1.08508e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947029	237947029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:237947029C>G	ENST00000366574.2	+	90	12334	c.12017C>G	c.(12016-12018)tCt>tGt	p.S4006C	RYR2_ENST00000542537.1_Missense_Mutation_p.S3990C|RYR2_ENST00000360064.6_Missense_Mutation_p.S4012C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4006					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGTGGAATCTTCCAACAAC	0.358000													9	9					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965139	9965139	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:9965139G>T	ENST00000264833.4	-	6	1273	c.1088C>A	c.(1087-1089)aCc>aAc	p.T363N	OLFM2_ENST00000590841.1_Missense_Mutation_p.T285N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	363	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGGGTAGCCGGTGTCCCAGGA	0.647000													34	18					7.53189e-24	1.08779e-23	1	1	0
ESR1	2099	broad.mit.edu	37	6	152382259	152382259	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:152382259G>T	ENST00000440973.1	+	8	1739	c.1369_splice	c.e8+1	p.G457_splice	ESR1_ENST00000456483.2_Splice_Site_p.G345_splice|ESR1_ENST00000544394.1_Splice_Site_p.G284_splice|ESR1_ENST00000338799.5_Splice_Site_p.G457_splice|ESR1_ENST00000406599.1_Splice_Site_p.G196_splice|ESR1_ENST00000443427.1_Splice_Site_p.G457_splice|ESR1_ENST00000206249.3_Splice_Site_p.G457_splice	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	457	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GCTTAATTCTGGTGAGTTGAT	0.398000													22	26					2.14196e-07	2.42936e-07	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44665431	44665431	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:44665431C>A	ENST00000454036.1	+	5	623	c.547C>A	c.(547-549)Cct>Act	p.P183T	SLC12A5_ENST00000372315.1_Missense_Mutation_p.P160T|SLC12A5_ENST00000243964.3_Missense_Mutation_p.P160T|SLC12A5_ENST00000539566.1_Missense_Mutation_p.P160T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	183					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGTGTTGTGCCTGGTAGGTG	0.577000													10	110					3.07112e-06	3.369e-06	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48628987	48628987	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:48628987C>T	ENST00000328333.8	-	12	1653	c.1546G>A	c.(1546-1548)Gcc>Acc	p.A516T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A516T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	516	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCTCGGTGGCTTGCAGGTCT	0.662000													33	61					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458434	142458434	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142458434G>A	ENST00000486171.1	+	2	86	c.69G>A	c.(67-69)aaG>aaA	p.K23K	PRSS1_ENST00000311737.7_Silent_p.K23K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	23			K -> R (in PCTT; increased rate of activation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATGATGACAAGATCGTTGGGG	0.537000													20	419					0	0	1	0	0
SF3B6	51639	broad.mit.edu	37	2	24299173	24299173	+	Translation_Start_Site	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:24299173C>T	ENST00000233468.4	-	0	140					NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN							nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGTTACACCGCGTTAGAT	0.597000													5	12					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752726	62752726	+	RNA	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:62752726C>G	ENST00000331425.6	-	0	709					NR_003952.1																						AAGGCTTTGCCACATTCCTCA	0.408000													11	5					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019979	20019979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:20019979C>G	ENST00000551509.1	-	1	293	c.242G>C	c.(241-243)gGc>gCc	p.G81A		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	81										endometrium(4)|kidney(1)|lung(4)	9						TCCAGAAGTGCCCACGTTGCT	0.602000													41	637					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:18554486G>T	ENST00000251296.1	+	2	548	c.165G>T	c.(163-165)cgG>cgT	p.R55R		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000													42	19					4.14194e-30	6.26361e-30	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	36					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208787	53208787	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:53208787C>T	ENST00000543227.1	-	6	1795	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E	ZNF611_ENST00000453741.2_Silent_p.E438E|ZNF611_ENST00000595798.1_Silent_p.E438E|ZNF611_ENST00000540744.1_Silent_p.E507E|ZNF611_ENST00000319783.1_Silent_p.E507E|ZNF611_ENST00000602162.1_Silent_p.E438E	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGTAAGGTTGCTCCCCAGTAT	0.358000													31	49					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451505	70451505	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:70451505C>G	ENST00000373644.4	+	12	6554	c.6345C>G	c.(6343-6345)gaC>gaG	p.D2115E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2115					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TAACCCATGACAATGTTGTCA	0.448000													46	87					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561170	154561170	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:154561170T>C	ENST00000404039.1	+	9	1322	c.735T>C	c.(733-735)gaT>gaC	p.D245D	DPP6_ENST00000377770.3_Silent_p.D309D|DPP6_ENST00000427557.1_Silent_p.D202D|DPP6_ENST00000332007.3_Silent_p.D247D	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	309					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGTCTCCGGATGGCACGAGAC	0.522000													15	116					0	0	1	0	0
CBWD6	644019	broad.mit.edu	37	9	69238276	69238276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:69238276C>A	ENST00000377457.5	-	8	721	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	CBWD6_ENST00000377449.1_Missense_Mutation_p.D170Y|CBWD6_ENST00000382399.4_Missense_Mutation_p.D186Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	206							ATP binding			lung(4)	4						GGGACCAAGTCTGTTTTATTA	0.318000													9	81					4.68919e-08	5.41787e-08	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555843	125555843	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:125555843C>G	ENST00000431078.1	+	19	3524	c.3160C>G	c.(3160-3162)Ctc>Gtc	p.L1054V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1054	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGTCTTTTGCTCTTTATCAA	0.473000													9	28					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692297	31692297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:31692297G>T	ENST00000319386.3	+	14	3538	c.2545G>T	c.(2545-2547)Ggt>Tgt	p.G849C	CCDC129_ENST00000409210.1_Missense_Mutation_p.G905C|CCDC129_ENST00000451887.2_Splice_Site_p.G1023_splice|CCDC129_ENST00000407970.3_Missense_Mutation_p.G997C			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	997										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCCTGTTCAGGTGGGACCCA	0.547000													5	22					5.9392e-07	6.61467e-07	1	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863723	64863723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:64863723C>A	ENST00000313349.3	-	2	580	c.283G>T	c.(283-285)Gag>Tag	p.E95*	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	95					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TCGCTGGGCTCGGTGGTGGGC	0.647000													14	17					9.31168e-06	1.01044e-05	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168272913	168272913	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:168272913C>A	ENST00000366806.2	+	4	576	c.434C>A	c.(433-435)cCt>cAt	p.P145H	MLLT4_ENST00000351017.4_Missense_Mutation_p.P145H|MLLT4_ENST00000400822.3_Missense_Mutation_p.P144H|MLLT4_ENST00000392108.3_Missense_Mutation_p.P145H|MLLT4_ENST00000447894.2_Missense_Mutation_p.P145H|MLLT4_ENST00000344191.4_Missense_Mutation_p.P145H|MLLT4_ENST00000392112.1_Missense_Mutation_p.P144H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	145					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTAATGGACCTGAAAAGCAG	0.373000			T	MLL	AL								13	53					4.14922e-12	5.11801e-12	1	1	0
INTS5	80789	broad.mit.edu	37	11	62415016	62415016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:62415016G>A	ENST00000330574.2	-	2	2588	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	846					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CGGCCAATGCGGAGATCCCGC	0.657000													51	50					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148150	100148150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:100148150C>A	ENST00000370575.4	-	13	1456	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	470							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCGTCCCAGGCCTTGCCTCCA	0.622000													10	16					7.03913e-09	8.23968e-09	1	1	0
SURF2	6835	broad.mit.edu	37	9	136226896	136226896	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:136226896G>C	ENST00000371964.4	+	4	449	c.408G>C	c.(406-408)gaG>gaC	p.E136D	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	136							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GGAGGAGGGAGGACCAGATGG	0.622000													6	15					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155053	55155053	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:55155053C>G	ENST00000257290.5	+	20	3093	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A681G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	921	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCTGACCACGCTACCAGTGAA	0.582000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			16	57					0	0	1	0	0
MIR206	406989	broad.mit.edu	37	6	52009162	52009162	+	RNA	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:52009162C>T	ENST00000384872.1	+	0	16					NR_029713.1																						CCCGAGGCCACATGCTTCTTT	0.542000													72	15					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58444871	58444871	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:58444871A>T	ENST00000357552.3	-	36	3948	c.3723T>A	c.(3721-3723)taT>taA	p.Y1241*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Y1241*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1241					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGCTTTGTATATAATTTTCAT	0.323000													11	51					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47409828	47409828	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:47409828C>T	ENST00000320640.6	-	7	907	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	ITFG1_ENST00000544001.2_Missense_Mutation_p.A114T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	227						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTAGTGGTGGCATTCAATGTC	0.303000													9	22					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940564	49940564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:49940564G>A	ENST00000296474.3	-	1	506	c.479C>T	c.(478-480)cCa>cTa	p.P160L	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P160L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	160	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAGGCAGGCTGGCGCTGCCAG	0.662000													27	38					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691536	49691536	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:49691536A>G	ENST00000296452.4	+	5	4661	c.4547A>G	c.(4546-4548)gAc>gGc	p.D1516G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1516					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTGCCTCAGACATGCCACGG	0.622000													27	36					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287843	46287843	+	Missense_Mutation	SNP	T	T	G	rs141760090		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:46287843T>G	ENST00000378966.3	+	2	991	c.575T>G	c.(574-576)gTg>gGg	p.V192G	SPERT_ENST00000310521.1_Missense_Mutation_p.V228G			Q8NA61	SPERT_HUMAN	spermatid associated	228						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TCCCTGGAGGTGGTGAAGAAG	0.672000													11	9					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				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			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						CGGCCTACGATATGGACATCT	0.622000													6	85					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100380944	100380944	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:100380944G>T	ENST00000294724.4	+	31	4639		c.e31-1		AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000370163.3_Splice_Site|AGL_ENST00000370161.2_Splice_Site|AGL_ENST00000361302.3_Splice_Site|AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000361915.3_Splice_Site	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCATTCACTAGGCCCCTGAGC	0.343000													4	29					0.014758	0.0151932	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853143	2853143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:2853143G>T	ENST00000334241.4	+	4	1218	c.1080G>T	c.(1078-1080)agG>agT	p.R360S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R359S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GACATGAAAGGATTCACACTG	0.438000													6	41					0.0381472	0.038775	1	1	0
NTN4	59277	broad.mit.edu	37	12	96131757	96131757	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:96131757A>G	ENST00000343702.4	-	3	1199	c.751T>C	c.(751-753)Tat>Cat	p.Y251H	NTN4_ENST00000538383.1_Missense_Mutation_p.Y214H|NTN4_ENST00000344911.4_Missense_Mutation_p.Y214H|NTN4_ENST00000553059.1_Missense_Mutation_p.Y251H|NTN4_ENST00000552603.1_5'UTR	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	251	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TAGATTGCATAGTGTGTAAAA	0.498000													3	37					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133106633	133106633	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:133106633C>G	ENST00000368642.4	-	3	596	c.511G>C	c.(511-513)Gct>Cct	p.A171P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	171	WW 1.									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)		GAGTCCAGAGCAAAGGAATTA	0.413000													12	25					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282274	125282274	+	Silent	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:125282274G>C	ENST00000340750.1	+	1	855	c.855G>C	c.(853-855)ctG>ctC	p.L285L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCCCATTGCTGAATCCCTTCA	0.458000													9	43					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027993	72027993	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:72027993T>A	ENST00000378743.3	-	12	2810	c.2452A>T	c.(2452-2454)Agg>Tgg	p.R818W		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	818					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTGCTATCCTGCCAATACCA	0.383000													27	91					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635223	32635223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:32635223C>A	ENST00000242310.4	-	1	444	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	119					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTGGCTTTCATCTTCTGCC	0.463000													43	96					3.4345e-17	4.6196e-17	1	1	0
KRT34	3885	broad.mit.edu	37	17	39535866	39535866	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:39535866C>T	ENST00000394001.1	-	4	862	c.832G>A	c.(832-834)Gtg>Atg	p.V278M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	278	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTAATTTCCACCAGAGCCTCA	0.612000													14	39					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096858	167096858	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:167096858T>C	ENST00000361200.2	+	6	2656	c.2490T>C	c.(2488-2490)aaT>aaC	p.N830N	DUSP27_ENST00000443333.1_Silent_p.N830N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.N830N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	830					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGCTGACAATGTGGACCTAA	0.522000													40	39					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385769	54385769	+	Silent	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:54385769C>G	ENST00000263431.3	+	1	303	c.21C>G	c.(19-21)ggC>ggG	p.G7G	PRKCG_ENST00000540413.1_Silent_p.G7G|PRKCG_ENST00000536044.1_Silent_p.G7G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	7					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGGGCCCCGGCGTAGGCGATT	0.627000													16	86					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563112	45563112	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:45563112G>T	ENST00000291577.6	+	6	640	c.547G>T	c.(547-549)Gcg>Tcg	p.A183S	C21orf33_ENST00000348499.5_Missense_Mutation_p.A152S	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	183						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		ACCTGTCCTCGCGGCCAAGGT	0.612000													15	18					2.98393e-07	3.37004e-07	1	1	0
ATG9A	79065	broad.mit.edu	37	2	220092692	220092692	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:220092692G>A	ENST00000409618.1	-	3	494	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	ATG9A_ENST00000409422.1_Intron|ATG9A_ENST00000488833.1_Intron|ATG9A_ENST00000361242.4_Missense_Mutation_p.P19S|ATG9A_ENST00000396761.2_Missense_Mutation_p.P19S			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	19					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCCTGGGGGTGAATCACTA	0.562000													15	89					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949639	118949639	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:118949639A>G	ENST00000328252.3	+	2	991	c.622A>G	c.(622-624)Atg>Gtg	p.M208V		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	208					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGGCAGTTCATGAAGCTCTA	0.567000													13	68					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208592	140208592	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:140208592G>C	ENST00000529310.1	+	1	1030	c.916G>C	c.(916-918)Ggt>Cgt	p.G306R	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G306R	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATTCGGGGTAATTTGGA	0.423000													11	55					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507189	155507189	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:155507189G>T	ENST00000302053.3	-	5	1470	c.1392C>A	c.(1390-1392)acC>acA	p.T464T	FGA_ENST00000403106.3_Silent_p.T464T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	464					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTTAGTAACGGTTTTAGAGC	0.458000													49	66					1.00798e-23	1.45056e-23	1	1	0
OR52L1	338751	broad.mit.edu	37	11	6007584	6007584	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6007584C>A	ENST00000332249.4	-	1	631	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCATGGCCTATGATGGTG	0.488000													75	75					2.61895e-37	4.22293e-37	1	1	0
FZD2	2535	broad.mit.edu	37	17	42636617	42636617	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:42636617T>A	ENST00000315323.3	+	1	1693	c.1561T>A	c.(1561-1563)Tac>Aac	p.Y521N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	521					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTCACGGTCTACATGATCAA	0.622000													24	17					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490031	71490031	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:71490031C>A	ENST00000296755.7	+	5	1147	c.849C>A	c.(847-849)ctC>ctA	p.L283L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	283						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAATATGCTCATCAATGGCG	0.493000													56	30					5.19286e-32	8.03442e-32	1	1	0
PROX1	5629	broad.mit.edu	37	1	214209055	214209055	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:214209055G>T	ENST00000366958.4	+	5	2700	c.2092G>T	c.(2092-2094)Gca>Tca	p.A698S	PROX1_ENST00000435016.1_Missense_Mutation_p.A698S|PROX1_ENST00000261454.4_Missense_Mutation_p.A698S|PROX1_ENST00000498508.2_Missense_Mutation_p.A698S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	698	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGCCATTATCGCAGGCAAAGA	0.438000													14	26					1.49906e-05	1.6223e-05	1	1	0
BOC	91653	broad.mit.edu	37	3	112999989	112999989	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:112999989G>A	ENST00000495514.1	+	15	3124	c.2420G>A	c.(2419-2421)tGt>tAt	p.C807Y	BOC_ENST00000273395.4_Missense_Mutation_p.C808Y|BOC_ENST00000355385.3_Missense_Mutation_p.C807Y			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	807	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GTGATGATCTGTGAGACCAAA	0.552000													16	22					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29598363	29598363	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:29598363C>A	ENST00000377034.4	-	4	682	c.347G>T	c.(346-348)gGt>gTt	p.G116V	GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Missense_Mutation_p.G116V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	116	Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GAGGTCCCCACCCGTCAGGAA	0.557000													17	31					2.98393e-07	3.37004e-07	1	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162879	33162879	+	RNA	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:33162879A>T	ENST00000510327.1	-	0	346																											TTGGAGTTCTATCTTAGGAAA	0.483000													16	8					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175414438	175414438	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:175414438C>T	ENST00000296522.6	-	6	972	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000541923.1_Missense_Mutation_p.V55M|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000510901.1_Missense_Mutation_p.V55M|HPGD_ENST00000422112.2_Missense_Mutation_p.V108M	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TTCAGTCTCACACCACTGTTC	0.368000													26	39					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38048466	38048466	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:38048466G>A	ENST00000373062.3	-	7	806	c.708C>T	c.(706-708)caC>caT	p.H236H		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	236					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAGTTTCAATGTGAGGGGAAC	0.383000													15	49					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584289	88584289	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:88584289C>T	ENST00000339673.6	+	6	1458	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Silent_p.D437D	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	453					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAAGACGACAGTGACTCTC	0.517000													8	42					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576546	158576546	+	Silent	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:158576546A>G	ENST00000361284.1	+	1	318	c.318A>G	c.(316-318)tcA>tcG	p.S106S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTTCTGCCTCATGGGCCTGTA	0.552000													61	128					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236883437	236883437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:236883437G>T	ENST00000366578.4	+	4	560	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	ACTN2_ENST00000542672.1_Missense_Mutation_p.G132C|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	132	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AATGACCCTGGGTATGATCTG	0.338000													45	56					3.37043e-27	5.00269e-27	1	1	0
NXPE1	120400	broad.mit.edu	37	11	114392968	114392968	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:114392968C>T	ENST00000536271.1	-	4	1757	c.514G>A	c.(514-516)Ggt>Agt	p.G172S	NXPE1_ENST00000251921.2_Missense_Mutation_p.G314S|NXPE1_ENST00000424269.1_Missense_Mutation_p.G456S					neurexophilin and PC-esterase domain family, member 1																		TTTTGAACACCGATGGCCCTG	0.438000													30	89					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319891	8319891	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:8319891T>A	ENST00000381196.4	-	42	6153	c.5610A>T	c.(5608-5610)gtA>gtT	p.V1870V	PTPRD_ENST00000397611.3_Silent_p.V1460V|PTPRD_ENST00000397617.3_Silent_p.V1463V|PTPRD_ENST00000540109.1_Silent_p.V1870V|PTPRD_ENST00000360074.4_Silent_p.V1857V|PTPRD_ENST00000537002.1_Silent_p.V1460V|PTPRD_ENST00000358503.5_Silent_p.V1848V|PTPRD_ENST00000486161.1_Silent_p.V1463V|PTPRD_ENST00000356435.5_Silent_p.V1870V|PTPRD_ENST00000355233.5_Silent_p.V1464V|PTPRD_ENST00000397606.3_Silent_p.V1463V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1870	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGAAGATATCTACAACTCCTT	0.423000										TSP Lung(15;0.13)			18	56					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776138	14776138	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:14776138C>A	ENST00000380881.4	-	26	5324	c.4509G>T	c.(4507-4509)gtG>gtT	p.V1503V	FREM1_ENST00000422223.2_Silent_p.V1502V|FREM1_ENST00000380880.3_Silent_p.V1502V|FREM1_ENST00000380894.1_Silent_p.V38V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1502					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGCTCTGTCCACAGTCTCCA	0.582000													19	31					3.51602e-12	4.34363e-12	1	1	0
KERA	11081	broad.mit.edu	37	12	91449760	91449760	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:91449760A>T	ENST00000266719.3	-	2	546	c.299T>A	c.(298-300)aTa>aAa	p.I100K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	100					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTTAGATTTATCCATCTTAG	0.373000													60	31					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511119	56511119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:56511119T>A	ENST00000302957.3	-	1	168	c.169A>T	c.(169-171)Aac>Tac	p.N57Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAGGTCATGTTTCCTGACAAG	0.408000													32	36					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43935437	43935437	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:43935437A>T	ENST00000261488.6	-	6	937	c.360T>A	c.(358-360)tgT>tgA	p.C120*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.C120*|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	120	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAAAAAGAGTACAGCTTTTGC	0.383000													15	42					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1044633	1044633	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:1044633C>A	ENST00000263094.6	+	11	1336	c.1105C>A	c.(1105-1107)Cac>Aac	p.H369N	ABCA7_ENST00000435683.2_Missense_Mutation_p.H231N|ABCA7_ENST00000433129.1_Missense_Mutation_p.H369N	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	369					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGGCCGGGACCACATGGAGGC	0.667000													4	39					1.024e-07	1.173e-07	1	1	0
DDO	8528	broad.mit.edu	37	6	110714464	110714464	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:110714464G>T	ENST00000368924.3	-	5	639	c.624C>A	c.(622-624)gtC>gtA	p.V208V	DDO_ENST00000368923.3_Silent_p.V149V|DDO_ENST00000368925.1_Silent_p.V180V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	180					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTGAACAGTTGACCACGATGT	0.532000													69	66					8.87156e-34	1.3941e-33	1	1	0
PCSK4	54760	broad.mit.edu	37	19	1481835	1481835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:1481835G>A	ENST00000300954.5	-	15	2252	c.2191C>T	c.(2191-2193)Ctc>Ttc	p.L731F		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	731					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		TATAGTGGGAGGTCCATGGAC	0.677000													18	6					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367055	248367055	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:248367055G>A	ENST00000456743.1	+	1	724	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			ATTCACATGGGATCTGGAGAG	0.443000													157	212					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86383855	86383855	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:86383855C>T	ENST00000376371.2	-	8	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	206					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AATCCTCCATCATGTGATAAA	0.318000													4	32					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469527	21469527	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:21469527T>C	ENST00000222584.3	+	3	962	c.744T>C	c.(742-744)ggT>ggC	p.G248G		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	248					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTCTTCCTGGTACTCAGGCTC	0.478000													18	43					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684502	3684502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:3684502C>A	ENST00000344754.4	-	4	942	c.943G>T	c.(943-945)Gtc>Ttc	p.V315F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V315F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	315	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGGGTGAGACCAAAGAGCCC	0.607000													3	36					0.004672	0.00485332	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363743	22363743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:22363743C>A	ENST00000397121.2	-	3	1093	c.776G>T	c.(775-777)gGc>gTc	p.G259V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAATCCTTTGCCACATTCTTC	0.383000													28	43					1.56442e-22	2.21557e-22	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:31286996C>T	ENST00000544665.3	+	9	1056	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_ENST00000287497.8_Missense_Mutation_p.R329W	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	329					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542000													9	32					0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17412823	17412823	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:17412823G>A	ENST00000395781.2	-	5	584	c.503C>T	c.(502-504)aCc>aTc	p.T168I	PEMT_ENST00000435340.2_Missense_Mutation_p.T146I|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000255389.5_Missense_Mutation_p.T168I|PEMT_ENST00000395782.1_Missense_Mutation_p.T131I|PEMT_ENST00000395783.1_Missense_Mutation_p.T131I	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	131					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGGGAACACGGTCACTCTCGC	0.587000													61	33					0	0	1	0	0
PRDX3	10935	broad.mit.edu	37	10	120931969	120931969	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:120931969G>A	ENST00000298510.2	-	5	518	c.476C>T	c.(475-477)gCa>gTa	p.A159V	PRDX3_ENST00000356951.3_Missense_Mutation_p.A141V	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	159	Thioredoxin.				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)		TGACAAGAGTGCGATGTTCAT	0.428000													30	97					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104155186	104155186	+	Missense_Mutation	SNP	G	G	A	rs150571623	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:104155186G>A	ENST00000388887.2	+	66	7561	c.7357G>A	c.(7357-7359)Gtg>Atg	p.V2453M	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2453					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCTGCCCCCGTGGTGAGTAT	0.552000													8	76					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88220932	88220932	+	Splice_Site	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:88220932C>G	ENST00000298767.5	-	10	2955		c.e10+1		WAPAL_ENST00000372075.1_Splice_Site|WAPAL_ENST00000263070.7_Splice_Site	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAATATCATACCTTTATCTAC	0.323000													19	35					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270889	22270889	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:22270889T>C	ENST00000594947.1	+	4	481	c.337T>C	c.(337-339)Tta>Cta	p.L113L	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAATTTACAATTAAGAAAGGG	0.358000													11	42					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702761	6702761	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:6702761G>A	ENST00000309577.6	-	16	2498	c.2335C>T	c.(2335-2337)Cta>Tta	p.L779L	CHD4_ENST00000357008.2_Silent_p.L779L|CHD4_ENST00000544040.1_Silent_p.L772L|CHD4_ENST00000544484.1_Silent_p.L776L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	779	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCGCTCACTAGGAAGGGGCCT	0.552000													13	49					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952524	44952524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:44952524A>T	ENST00000296125.4	+	12	1749	c.1681A>T	c.(1681-1683)Atc>Ttc	p.I561F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	561					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGAGCCAGTTATCAGAGGTTT	0.463000													6	35					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70647957	70647957	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:70647957G>C	ENST00000322773.4	+	9	1003	c.901G>C	c.(901-903)Ggt>Cgt	p.G301R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	301	Triple-helical region 1 (COL1).				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						AGGAGCTCCGGGTTCACCTGG	0.388000													10	15					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838324	100838324	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:100838324G>T	ENST00000369208.3	-	12	2996	c.2214C>A	c.(2212-2214)caC>caA	p.H738Q	SIM1_ENST00000262901.4_Missense_Mutation_p.H738Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	738	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACATCAAAGTGTGAGCCAT	0.423000													26	122					1.17739e-12	1.47266e-12	1	1	0
SLC35D2	11046	broad.mit.edu	37	9	99083525	99083525	+	Silent	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:99083525T>C	ENST00000253270.7	-	12	1075	c.1013A>G	c.(1012-1014)tAa>tGa	p.*338*	SLC35D2_ENST00000375259.4_Silent_p.*250*	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	0						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GCAGACTCTTTAGCTCTTCAA	0.488000													10	7					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901297	51901297	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:51901297C>A	ENST00000268919.4	+	1	1059	c.903C>A	c.(901-903)gcC>gcA	p.A301A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	301	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTGCTTTGCCTATGGGCAGA	0.557000													48	33					2.22609e-26	3.28593e-26	1	1	0
GRID1	2894	broad.mit.edu	37	10	87614258	87614258	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:87614258G>C	ENST00000327946.7	-	8	1313	c.1228C>G	c.(1228-1230)Cgc>Ggc	p.R410G		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTACCTTGCGCATGTCTTTG	0.512000										Multiple Myeloma(13;0.14)			23	34					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103498980	103498980	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:103498980G>T	ENST00000372588.4	-	2	444	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	121					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCGGCTGTGGCCCCTCCACG	0.701000													19	7					1.36565e-18	1.86499e-18	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33534521	33534521	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:33534521G>A	ENST00000404816.2	+	23	3855	c.3502G>A	c.(3502-3504)Gac>Aac	p.D1168N	LTBP1_ENST00000354476.3_Missense_Mutation_p.D1169N|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.D789N|LTBP1_ENST00000418533.2_Missense_Mutation_p.D842N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D789N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D842N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D843N|LTBP1_ENST00000272273.5_Missense_Mutation_p.D108N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1168	EGF-like 11; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGCTTGGAGGACAAGAGTGT	0.338000													17	85					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778607	84778607	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:84778607G>A	ENST00000219473.7	+	4	633	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.E178K	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	174					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TATCTCCACAGAAGCCCTGGT	0.502000													9	23					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161847	1161847	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:1161847G>A	ENST00000356191.2	+	18	1518	c.1518G>A	c.(1516-1518)gtG>gtA	p.V506V						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTGGGGAAGTGTTCCTGAACC	0.672000													9	39					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009278	88009278	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:88009278A>G	ENST00000276127.4	+	3	1122	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.Y288C	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	288						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTAACACTTACTCTGAATTA	0.294000													26	4					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192153451	192153451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:192153451G>A	ENST00000367460.3	+	5	656	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	159	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCACACAAAAGAAGTCATTAC	0.363000													28	40					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845802	130845802	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:130845802C>A	ENST00000245255.3	+	15	2015	c.1743C>A	c.(1741-1743)acC>acA	p.T581T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	581	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTGCCCTACCCCAAGTCAGT	0.453000													55	20					2.83923e-41	4.68152e-41	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77651554	77651554	+	Silent	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:77651554T>G	ENST00000461745.1	+	20	3948	c.3048T>G	c.(3046-3048)ccT>ccG	p.P1016P	ROBO2_ENST00000487694.3_Silent_p.P1032P|ROBO2_ENST00000332191.8_Silent_p.P1016P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1016					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCGATCTGCCTGATCCACAAT	0.433000													9	40					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206392	116206392	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:116206392G>T	ENST00000355485.2	+	4	586	c.315G>T	c.(313-315)ctG>ctT	p.L105L	VANGL1_ENST00000310260.3_Silent_p.L105L|VANGL1_ENST00000369509.1_Silent_p.L105L|VANGL1_ENST00000369510.3_Silent_p.L103L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	105					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCGTGGGGCTGGATTGCAAAC	0.562000													29	57					1.61788e-16	2.16526e-16	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853142	2853142	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:2853142G>C	ENST00000334241.4	+	4	1217	c.1079G>C	c.(1078-1080)aGg>aCg	p.R360T	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R359T	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AGACATGAAAGGATTCACACT	0.438000													7	40					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620137	77620137	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:77620137A>T	ENST00000521891.2	+	3	3395	c.2947A>T	c.(2947-2949)Agc>Tgc	p.S983C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S957C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S957C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S957C|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	957						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)			AGGGGGCAAAAGCAATGAGTG	0.428000										HNSCC(33;0.089)			27	160					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													8	61					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56600497	56600497	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:56600497T>G	ENST00000345093.4	-	7	1057	c.688A>C	c.(688-690)Aag>Cag	p.K230Q	RNF41_ENST00000394013.2_Missense_Mutation_p.K159Q|RNF41_ENST00000552656.1_Missense_Mutation_p.K230Q	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	230					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						AGGGAGCGCTTGATTACAGCC	0.582000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	73					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86868383	86868383	+	Splice_Site	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:86868383G>T	ENST00000305494.5	+	5	436	c.396_splice	c.e5-1	p.A133_splice	TMEM135_ENST00000355734.4_Intron|TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000532959.1_Splice_Site_p.A4_splice|TMEM135_ENST00000535167.1_5'UTR	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	133						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAATTTACAGGCCACAGAAAC	0.303000													22	71					1.96895e-08	2.2914e-08	1	1	0
GRM1	2911	broad.mit.edu	37	6	146351224	146351224	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:146351224G>T	ENST00000392299.2	+	2	1041	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	GRM1_ENST00000492807.2_Missense_Mutation_p.D191Y|GRM1_ENST00000361719.2_Missense_Mutation_p.D191Y|GRM1_ENST00000282753.1_Missense_Mutation_p.D191Y|GRM1_ENST00000507907.1_Missense_Mutation_p.D191Y|GRM1_ENST00000355289.4_Missense_Mutation_p.D191Y			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	191					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CACAAGCATCGACCTGAGTGA	0.507000													44	69					8.72198e-27	1.28983e-26	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154394831	154394831	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:154394831A>T	ENST00000435029.4	+	1	1572	c.1412A>T	c.(1411-1413)cAa>cTa	p.Q471L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	471					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACCTGCAGCAACTGATTACC	0.453000													18	45					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17156118	17156118	+	Missense_Mutation	SNP	C	C	A	rs144440300		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:17156118C>A	ENST00000377833.4	-	8	856	c.791G>T	c.(790-792)aGa>aTa	p.R264I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	264	EGF-like 3; calcium-binding (Potential).				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)	GCACTCGTCTCTGTCCAGCGT	0.552000													21	7					1.55469e-16	2.08417e-16	1	1	0
PCK1	5105	broad.mit.edu	37	20	56136623	56136623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:56136623G>T	ENST00000319441.4	+	2	320	c.156G>T	c.(154-156)gaG>gaT	p.E52D	PCK1_ENST00000535860.1_5'UTR|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	52					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGAGGAGGAGAATGGGCGGC	0.597000													78	94					4.82855e-46	8.09463e-46	1	1	0
CATSPERG	57828	broad.mit.edu	37	19	38858341	38858341	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:38858341G>T	ENST00000409235.3	+	25	2970	c.2855G>T	c.(2854-2856)gGt>gTt	p.G952V	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.G912V	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	952					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGGTGGTGGGTGGCGGGCCC	0.607000													294	418					3.83786e-189	6.71417e-189	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37169802	37169802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:37169802G>T	ENST00000262879.6	+	18	2965	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R890M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R894M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R672M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	894					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCATCTATGAGGGTAAAGGAT	0.473000													56	56					3.30712e-30	5.02007e-30	1	1	0
MRPL11	65003	broad.mit.edu	37	11	66206175	66206175	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:66206175G>A	ENST00000310999.7	-	1	144	c.51C>T	c.(49-51)ggC>ggT	p.G17G	MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000329819.4_Silent_p.G17G|MRPL11_ENST00000524576.1_Intron	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	17					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GGATCACACCGCCGACCTCGG	0.716000													18	13					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25967026	25967026	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:25967026G>A	ENST00000435504.4	-	13	2473	c.2180C>T	c.(2179-2181)cCc>cTc	p.P727L	ASXL2_ENST00000336112.4_Missense_Mutation_p.P699L|ASXL2_ENST00000404843.1_Missense_Mutation_p.P467L|ASXL2_ENST00000272341.4_Missense_Mutation_p.P467L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	727	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAGTGTGGGGCCCTTTCC	0.602000													31	122					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227280	158227280	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:158227280C>T	ENST00000289429.5	+	5	1486	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ATAGGTCTTGCGCTTTGGTTC	0.458000													27	186					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92572893	92572893	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:92572893C>T	ENST00000545170.1	-	1	72	c.4G>A	c.(4-6)Gag>Aag	p.E2K	ATXN3_ENST00000503767.1_Missense_Mutation_p.E2K|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000532032.1_Missense_Mutation_p.E2K|ATXN3_ENST00000393287.5_Missense_Mutation_p.E2K|ATXN3_ENST00000340660.6_Missense_Mutation_p.E2K|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_Missense_Mutation_p.E2K	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	2	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAGATGGACTCCATGTTTATT	0.711000													33	35					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496625	113496625	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:113496625C>A	ENST00000416899.2	+	6	849	c.723C>A	c.(721-723)ccC>ccA	p.P241P	MUSK_ENST00000189978.5_Silent_p.P241P|MUSK_ENST00000374448.4_Silent_p.P241P			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	241	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTCCTGTCCCCACCATCACCT	0.507000													55	64					7.75977e-34	1.22178e-33	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37169803	37169803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:37169803G>T	ENST00000262879.6	+	18	2966	c.2682G>T	c.(2680-2682)agG>agT	p.R894S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R890S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R894S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R672S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	894					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATCTATGAGGGTAAAGGATG	0.468000													56	53					3.94896e-32	6.12166e-32	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334575	132334575	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:132334575C>T	ENST00000360564.1	+	9	1535	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	MMP17_ENST00000535291.1_Missense_Mutation_p.T394M|MMP17_ENST00000535004.1_Missense_Mutation_p.T18M	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	478					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GTCCCCAGCACGCTGGACGAC	0.667000													5	30					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344751	20344751	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr14:20344751G>A	ENST00000298642.2	+	1	361	c.325G>A	c.(325-327)Gga>Aga	p.G109R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTTCACTGGAACTGAGAT	0.438000													41	174					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570197	87570197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:87570197A>G	ENST00000370550.5	+	7	1252	c.889A>G	c.(889-891)Act>Gct	p.T297A	HS2ST1_ENST00000356813.4_Intron|RP5-1052I5.2_ENST00000370548.2_Intron	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	297						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		GAAACTCCCCACTAAACAAAC	0.368000													10	43					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997680	115997680	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:115997680G>T	ENST00000264363.2	-	2	1191	c.513C>A	c.(511-513)agC>agA	p.S171R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	171	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)		TACTTGGTAAGCTGTTCTCAT	0.358000													21	32					3.8784e-16	5.1477e-16	1	1	0
MUC5AC	4586	broad.mit.edu	37	11	1157767	1157767	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:1157767C>T	ENST00000356191.2	+	13	825	c.825C>T	c.(823-825)tgC>tgT	p.C275C						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TCTCTGGCTGCGTGGCCCTGG	0.637000													9	67					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823566	38823566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:38823566G>A	ENST00000303592.3	-	2	830	c.572C>T	c.(571-573)gCg>gTg	p.A191V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGAAATGACCGCGTGGTGGCT	0.637000													11	33					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888182	25888182	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:25888182C>A	ENST00000376351.3	+	11	3986	c.3627C>A	c.(3625-3627)atC>atA	p.I1209I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1209			I -> V (in dbSNP:rs10828833).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGAAGAGATCTGGGATAGTT	0.433000													38	17					9.45407e-15	1.23041e-14	1	1	0
KERA	11081	broad.mit.edu	37	12	91449759	91449759	+	Silent	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:91449759T>A	ENST00000266719.3	-	2	547	c.300A>T	c.(298-300)atA>atT	p.I100I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	100					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGTTTAGATTTATCCATCTTA	0.373000													57	31					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573195	56573195	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:56573195T>A	ENST00000323456.5	-	16	2432	c.2308A>T	c.(2308-2310)Aac>Tac	p.N770Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.N713Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	770						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACACTTGTTAGAAATGACC	0.517000													25	218					0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140624670	140624670	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:140624670T>A	ENST00000265498.1	+	4	543	c.291T>A	c.(289-291)taT>taA	p.Y97*	MGST2_ENST00000506797.1_Missense_Mutation_p.F74I|MGST2_ENST00000515137.1_3'UTR	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	97					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TCTGGGGATATTCAGAAGCTG	0.408000													13	22					0	0	1	0	0
RHOXF2	84528	broad.mit.edu	37	X	119293090	119293090	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:119293090C>A	ENST00000371388.3	+	2	439	c.249C>A	c.(247-249)gcC>gcA	p.A83A		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	83						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GCGGCGGCGCCGGAGTTCCTG	0.607000													29	7					1.15183e-24	1.67558e-24	1	1	0
KRT3	3850	broad.mit.edu	37	12	53185110	53185110	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:53185110T>A	ENST00000417996.2	-	7	1489	c.1415A>T	c.(1414-1416)cAg>cTg	p.Q472L	KRT3_ENST00000309505.3_Missense_Mutation_p.Q472L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	472	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTTCGCCTGCTGTAGAGCAGC	0.607000													16	110					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845839	49845839	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:49845839C>A	ENST00000377214.4	-	10	1457	c.1095G>T	c.(1093-1095)cgG>cgT	p.R365R	TEAD2_ENST00000311227.2_Silent_p.R362R|TEAD2_ENST00000539846.1_Silent_p.R234R|TEAD2_ENST00000593945.1_Silent_p.R366R|TEAD2_ENST00000598810.1_Silent_p.R366R|TEAD2_ENST00000601519.1_Silent_p.R365R			Q15562	TEAD2_HUMAN	TEA domain family member 2	362	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCAGCTGGGCCCGTTCCGTCT	0.597000													24	28					3.28513e-13	4.14773e-13	1	1	0
CCDC24	149473	broad.mit.edu	37	1	44461274	44461274	+	Splice_Site	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:44461274G>A	ENST00000372318.3	+	7	725	c.552_splice	c.e7-1	p.R185_splice	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	185										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCCCTGCAGCGCTGCCTGGAA	0.662000													3	18					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084435	53084435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:53084435C>A	ENST00000276480.7	-	10	1669	c.986G>T	c.(985-987)aGg>aTg	p.R329M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	329						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGCAGGAACCTATCCAGCTC	0.463000													37	176					3.54561e-26	5.22408e-26	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73849929	73849929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:73849929C>A	ENST00000523207.1	+	3	2927	c.2339C>A	c.(2338-2340)cCt>cAt	p.P780H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	780					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGTCAGGGACCTTCCAAAGGG	0.537000													20	66					9.62636e-23	1.373e-22	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33769162	33769162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:33769162C>A	ENST00000285013.6	-	5	1617	c.1342G>T	c.(1342-1344)Gac>Tac	p.D448Y	SLFN13_ENST00000542635.1_Missense_Mutation_p.D448Y|SLFN13_ENST00000534689.1_Missense_Mutation_p.D130Y|SLFN13_ENST00000533791.1_Missense_Mutation_p.D448Y|SLFN13_ENST00000526861.1_Missense_Mutation_p.D448Y|SLFN13_ENST00000360502.2_Missense_Mutation_p.D130Y	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	448						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTTCAGGTCCACAGCCCAG	0.502000													9	57					5.50884e-06	6.00217e-06	1	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148680744	148680744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:148680744C>A	ENST00000296721.4	+	4	376	c.278C>A	c.(277-279)cCc>cAc	p.P93H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P93H|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	93							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGGGAGCCCAGCAAAGGA	0.597000													44	45					2.93687e-30	4.48348e-30	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23248350	23248350	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:23248350T>A	ENST00000298032.5	+	6	468	c.384T>A	c.(382-384)ttT>ttA	p.F128L	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.F128L|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.F128L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	128							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCATGAGTTTGCTAGTCTTT	0.373000													4	37					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500929	33500929	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:33500929G>T	ENST00000404816.2	+	18	3284	c.2931G>T	c.(2929-2931)ggG>ggT	p.G977G	LTBP1_ENST00000354476.3_Silent_p.G978G|LTBP1_ENST00000402934.1_Silent_p.G598G|LTBP1_ENST00000418533.2_Silent_p.G651G|LTBP1_ENST00000404525.1_Silent_p.G598G|LTBP1_ENST00000407925.1_Silent_p.G651G|LTBP1_ENST00000390003.4_Silent_p.G652G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	977	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATACTGTGGGGGCCTTCCGGT	0.542000													85	62					5.5301e-39	8.98921e-39	1	1	0
SLC6A7	6534	broad.mit.edu	37	5	149583540	149583540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:149583540C>A	ENST00000230671.2	+	10	1642	c.1271C>A	c.(1270-1272)gCg>gAg	p.A424E	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A424E	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	424						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCCAAGAAGGCGGTGTTCTCA	0.587000													5	20					0.0215528	0.0221033	1	1	0
IFNGR1	3459	broad.mit.edu	37	6	137528209	137528209	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:137528209T>A	ENST00000367739.4	-	2	212	c.91A>T	c.(91-93)Aca>Tca	p.T31S	IFNGR1_ENST00000543628.1_Missense_Mutation_p.T3S|IFNGR1_ENST00000478333.1_5'UTR|IFNGR1_ENST00000367735.2_Missense_Mutation_p.T21S	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	31					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTAGTTGGTGTAGGCACTGTA	0.358000													5	54					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000													4	112					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227512	77227512	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr18:77227512C>T	ENST00000253506.5	+	8	2391	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V	NFATC1_ENST00000545796.1_Silent_p.V202V|NFATC1_ENST00000542384.1_Silent_p.V674V|NFATC1_ENST00000329101.4_Silent_p.V661V|NFATC1_ENST00000427363.2_Silent_p.V674V|NFATC1_ENST00000397790.2_Silent_p.V202V|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000592223.1_Silent_p.V661V|NFATC1_ENST00000591814.1_Silent_p.V674V|NFATC1_ENST00000586434.1_Silent_p.V661V|NFATC1_ENST00000318065.5_Silent_p.V661V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	674					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGTTCACGTCAGTTTCTACG	0.537000													22	41					0	0	1	0	0
TTC32	130502	broad.mit.edu	37	2	20101556	20101556	+	Missense_Mutation	SNP	G	G	C	rs138784198	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:20101556G>C	ENST00000333610.3	-	1	191	c.60C>G	c.(58-60)aaC>aaG	p.N20K	TTC32_ENST00000402414.1_Missense_Mutation_p.N20K	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	20							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCTCCATTGTTGAAATGAG	0.592000													27	70					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283328	113283328	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:113283328A>T	ENST00000362072.3	-	7	1432	c.1088T>A	c.(1087-1089)cTc>cAc	p.L363H	DRD2_ENST00000542968.1_Missense_Mutation_p.L363H|DRD2_ENST00000355319.2_Missense_Mutation_p.L365H|DRD2_ENST00000346454.3_Missense_Mutation_p.L334H|DRD2_ENST00000538967.1_Missense_Mutation_p.L365H|DRD2_ENST00000544518.1_Missense_Mutation_p.L362H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	363	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTGCTGGGAGAGCTTCCTACG	0.567000													5	50					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45996471	45996471	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:45996471G>T	ENST00000590526.1	-	5	1284	c.158C>A	c.(157-159)cCg>cAg	p.P53Q	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.P327Q|RTN2_ENST00000344680.4_Intron			O75298	RTN2_HUMAN	reticulon 2	327						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCTGCTTCTCGGGGATTTTGC	0.642000													37	179					1.15183e-24	1.67558e-24	1	1	0
LRFN3	79414	broad.mit.edu	37	19	36431252	36431252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:36431252G>T	ENST00000588831.1	+	3	1979	c.925G>T	c.(925-927)Gca>Tca	p.A309S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A309S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	309	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTGTGCCCGCAGGTCGGCC	0.716000													10	10					1.58986e-06	1.75849e-06	1	1	0
KCNV2	169522	broad.mit.edu	37	9	2719087	2719087	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:2719087T>A	ENST00000382082.3	+	1	1586	c.1348T>A	c.(1348-1350)Tgg>Agg	p.W450R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	450						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)		CTCCTGGTGGTGGGCCGCGGT	0.602000													15	58					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41226442	41226442	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:41226442C>A	ENST00000309486.4	-	13	4720	c.3693G>T	c.(3691-3693)gaG>gaT	p.E1231D	BRCA1_ENST00000471181.2_Missense_Mutation_p.E1548D|BRCA1_ENST00000468300.1_Missense_Mutation_p.E423D|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1527D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1480D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E385D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E344D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.E18D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E423D	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1527					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTAATGAGCTCCTCTTGAG	0.458000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			26	33					6.38683e-12	7.84194e-12	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55698616	55698616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:55698616G>T	ENST00000373965.2	-	26	3747	c.3353C>A	c.(3352-3354)tCc>tAc	p.S1118Y	PCDH15_ENST00000395432.2_Missense_Mutation_p.S1074Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1111Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1089Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1111Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1118Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1111Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1040Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1116Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S722Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1111Y|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1111	Cadherin 10.				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)				CACTTCCAGGGAATCAGCTTG	0.383000										HNSCC(58;0.16)			33	76					6.04917e-29	9.09642e-29	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974001	49974001	+	Missense_Mutation	SNP	G	G	T	rs148894043	byFrequency	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:49974001G>T	ENST00000555099.1	+	1	59	c.27G>T	c.(25-27)gaG>gaT	p.E9D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299000													17	51					1.9806e-07	2.25272e-07	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40740604	40740604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr12:40740604G>T	ENST00000298910.7	+	42	6217	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2053	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAACCAACAGGCTGATGTTT	0.363000													28	17					3.76114e-14	4.86343e-14	1	1	0
PMVK	10654	broad.mit.edu	37	1	154909116	154909116	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:154909116C>T	ENST00000368467.3	-	1	351	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	16					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCCTCTTGCCGCTGAACAGC	0.652000													6	6					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283033	69283033	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chrX:69283033T>C	ENST00000338352.2	+	1	693	c.659T>C	c.(658-660)cTg>cCg	p.L220P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	220	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGAGGCCAGCTGGAGCTGAGG	0.622000													9	31					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393375	145393375	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:145393375C>G	ENST00000511217.1	+	4	862	c.810C>G	c.(808-810)aaC>aaG	p.N270K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.N270K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	270							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAAAAAACCTGTCCCTGG	0.532000													12	50					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876132	148876132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:148876132C>T	ENST00000420008.2	+	6	1443	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	ZNF398_ENST00000540950.1_Nonsense_Mutation_p.Q395*|ZNF398_ENST00000426851.2_Nonsense_Mutation_p.Q219*|ZNF398_ENST00000335901.4_Nonsense_Mutation_p.Q219*|ZNF398_ENST00000483892.1_Nonsense_Mutation_p.Q219*|ZNF398_ENST00000475153.1_Nonsense_Mutation_p.Q390*|ZNF398_ENST00000491174.1_Nonsense_Mutation_p.Q219*	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	390					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGCACCTCCCAGGACCATGC	0.577000													95	146					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145623213	145623213	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:145623213C>T	ENST00000349769.3	-	20	2123	c.2029G>A	c.(2029-2031)Ggc>Agc	p.G677S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	677					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGGCGGCCACCGTAGGAG	0.692000													20	162					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078150	157078150	+	Missense_Mutation	SNP	C	C	T	rs145755542		TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr5:157078150C>T	ENST00000265007.6	-	1	1278	c.937G>A	c.(937-939)Gtc>Atc	p.V313I	SOX30_ENST00000311371.5_Missense_Mutation_p.V313I|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	313					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGCGGGACATCTTTGGTT	0.498000													10	72					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200101	128200101	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:128200101T>G	ENST00000341105.2	-	6	1535	c.1204A>C	c.(1204-1206)Aac>Cac	p.N402H	GATA2_ENST00000430265.2_Missense_Mutation_p.N388H|GATA2_ENST00000487848.1_Missense_Mutation_p.N402H|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	402					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TTGGACTTGTTGGACATCTTC	0.552000			Mis		AML(CML blast transformation)								14	59					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70155469	70155469	+	Splice_Site	SNP	A	A	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:70155469A>G	ENST00000335568.5	+	4	1091	c.1090_splice	c.e4+1	p.L363_splice	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	363					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATGACCTTCTAGGTAACACTC	0.353000													24	41					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680139	47680139	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:47680139C>A	ENST00000283303.2	+	5	605	c.347C>A	c.(346-348)cCt>cAt	p.P116H	GPR115_ENST00000327753.3_Missense_Mutation_p.P116H|GPR115_ENST00000371220.1_Missense_Mutation_p.P173H	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	116					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCATCTATACCTCTGCATATT	0.418000													91	36					4.10057e-40	6.71992e-40	1	1	0
PSMC5	5705	broad.mit.edu	37	17	61907258	61907258	+	Silent	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:61907258C>A	ENST00000310144.6	+	4	521	c.213C>A	c.(211-213)tcC>tcA	p.S71S	PSMC5_ENST00000375812.4_Silent_p.S63S|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Silent_p.S63S|PSMC5_ENST00000580864.1_Silent_p.S63S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	71					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGCAGGGCTCCTATGTGGGGG	0.557000													31	58					1.62957e-23	2.34087e-23	1	1	0
VANGL1	81839	broad.mit.edu	37	1	116206393	116206393	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:116206393G>T	ENST00000355485.2	+	4	587	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	VANGL1_ENST00000310260.3_Missense_Mutation_p.D106Y|VANGL1_ENST00000369509.1_Missense_Mutation_p.D106Y|VANGL1_ENST00000369510.3_Missense_Mutation_p.D104Y	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	106					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGGGCTGGATTGCAAACG	0.562000													29	54					1.22384e-17	1.65166e-17	1	1	0
PCK1	5105	broad.mit.edu	37	20	56139593	56139593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:56139593C>T	ENST00000535860.1	+	5	1045	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	PCK1_ENST00000319441.4_Silent_p.P414P|PCK1_ENST00000543666.1_Silent_p.P97P			P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	0					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCCAGTGCCCCATCATTGATG	0.562000													92	161					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118765015	118765015	+	Silent	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:118765015G>A	ENST00000292174.4	+	2	938	c.762G>A	c.(760-762)cgG>cgA	p.R254R	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	254					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCCCTCAGCGGCAGAAGGCAG	0.627000													3	41					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20505124	20505124	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr20:20505124G>A	ENST00000202677.6	-	30	3968	c.3826C>T	c.(3826-3828)Ctc>Ttc	p.L1276F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1276					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACGGGGTGGAGAAGGACACTC	0.557000													9	75					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128415006	128415006	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr2:128415006G>A	ENST00000409455.1	-	2	762	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	LIMS2_ENST00000355119.4_Missense_Mutation_p.R48W|LIMS2_ENST00000324938.5_Missense_Mutation_p.R72W|LIMS2_ENST00000545738.2_Missense_Mutation_p.R70W|LIMS2_ENST00000410011.1_Missense_Mutation_p.R43W|LIMS2_ENST00000409808.2_Missense_Mutation_p.R43W			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	48	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGGAAGGGCCGGAAGCACTGG	0.642000													3	89					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563113	45563113	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr21:45563113C>T	ENST00000291577.6	+	6	641	c.548C>T	c.(547-549)gCg>gTg	p.A183V	C21orf33_ENST00000348499.5_Missense_Mutation_p.A152V	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	183						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CCTGTCCTCGCGGCCAAGGTG	0.617000													16	18					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729586	110729586	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:110729586T>A	ENST00000368924.3	-	3	331	c.316A>T	c.(316-318)Att>Ttt	p.I106F	DDO_ENST00000368923.3_Missense_Mutation_p.I106F|DDO_ENST00000368925.1_Missense_Mutation_p.I78F	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	78					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GAATTGGCAATTGCAAAGAGG	0.398000													48	39					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													2	5					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350425	100350425	+	RNA	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:100350425C>A	ENST00000542585.1	+	0	2845				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACTCACCATCCCCA	0.517000													25	65					2.27525e-19	3.15005e-19	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24573481	24573481	+	Splice_Site	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:24573481C>T	ENST00000319715.4	+	10	1720	c.1289_splice	c.e10+1	p.R430_splice	RBBP6_ENST00000381039.3_Splice_Site_p.R430_splice|RBBP6_ENST00000348022.2_Splice_Site_p.R430_splice	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	430					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGACCTTTTCGGTAAGCCTG	0.403000													13	48					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53212521	53212521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr3:53212521G>T	ENST00000394729.2	+	2	411	c.83G>T	c.(82-84)tGt>tTt	p.C28F	PRKCD_ENST00000330452.3_Missense_Mutation_p.C28F|PRKCD_ENST00000477794.2_3'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	28	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CAGCCCTTCTGTGCCGTGAAG	0.667000													9	28					4.36969e-10	5.21376e-10	1	1	0
FOXL1	2300	broad.mit.edu	37	16	86613133	86613133	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:86613133G>T	ENST00000320241.3	+	1	1019	c.804G>T	c.(802-804)gcG>gcT	p.A268A		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	268					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GCATCCTGGCGGGAAAGCAGG	0.701000													3	2					0.014758	0.0151932	1	1	0
PLXDC2	84898	broad.mit.edu	37	10	20465998	20465998	+	Silent	SNP	G	G	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr10:20465998G>T	ENST00000377252.3	+	8	1795	c.954G>T	c.(952-954)tcG>tcT	p.S318S	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.S269S	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	318						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCAACATTTCGGCTGTGGAGA	0.323000													71	35					8.45e-40	1.37914e-39	1	1	0
CHD3	1107	broad.mit.edu	37	17	7801902	7801902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:7801902C>G	ENST00000380358.4	+	13	2318	c.2317C>G	c.(2317-2319)Ccc>Gcc	p.P773A	CHD3_ENST00000330494.7_Missense_Mutation_p.P714A|CHD3_ENST00000358181.4_Missense_Mutation_p.P714A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	714	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCCCAGTTCTCCCACTAATGA	0.478000													17	9					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748521	14748521	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:14748521G>C	ENST00000380881.4	-	32	6492	c.5677C>G	c.(5677-5679)Ctg>Gtg	p.L1893V	FREM1_ENST00000422223.2_Missense_Mutation_p.L1892V|FREM1_ENST00000380880.3_Missense_Mutation_p.L1892V|FREM1_ENST00000380894.1_Missense_Mutation_p.L428V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1892					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTCTTTCCAGATGAAAGGAA	0.507000													58	141					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762489	53762489	+	Silent	SNP	C	C	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:53762489C>T	ENST00000341702.3	+	1	945	c.861C>T	c.(859-861)gtC>gtT	p.V287V	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	287					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCGTTTTGGTCTTGTACAGGC	0.483000													64	58					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142278	55142278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr6:55142278C>A	ENST00000370862.3	+	5	1199	c.863C>A	c.(862-864)gCt>gAt	p.A288D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	288					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGGATGAGCGCTGTGGCGGCT	0.502000													19	14					1.96895e-08	2.2914e-08	1	1	0
HAUS3	79441	broad.mit.edu	37	4	2242155	2242155	+	Silent	SNP	A	A	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:2242155A>C	ENST00000243706.4	-	2	748	c.519T>G	c.(517-519)gtT>gtG	p.V173V	POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Silent_p.V173V|HAUS3_ENST00000443786.2_Silent_p.V173V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	173					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						tcaattgtgtaacttcatcag	0.358000													4	8					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1225740	1225750	+	Frame_Shift_Del	DEL	CTGCAGCTCTG	CTGCAGCTCTG	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr1:1225740_1225750delCTGCAGCTCTG	ENST00000338555.2	+	10	2404_2414	c.1260_1270delCTGCAGCTCTG	c.(1258-1272)taccfs	p.YCSSA420fs	SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.YCSSA584fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.YCSSA420fs|SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.YCSSA486fs					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGCTGAGTACTGCAGCTCTGCCCGGCACCC	0.668													7	95	---	---	---	---					
NSG1	27065	broad.mit.edu	37	4	4393262	4393262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:4393262delC	ENST00000421177.2	+	7	2181	c.190delC	c.(190-192)ccfs	p.P64fs	NSG1_ENST00000504171.1_Intron|NSG1_ENST00000397958.1_Frame_Shift_Del_p.P64fs|NSG1_ENST00000513555.1_Frame_Shift_Del_p.P64fs|NSG1_ENST00000506380.1_Frame_Shift_Del_p.P64fs|NSG1_ENST00000433139.2_Frame_Shift_Del_p.P64fs|NSG1_ENST00000505246.1_Frame_Shift_Del_p.P64fs																							AGCACGTCCTCCCCAAATTGC	0.507													26	27	---	---	---	---					
SOWAHB	345079	broad.mit.edu	37	4	77816819	77816820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:77816819_77816820insC	ENST00000334306.2	-	1	2182_2183	c.2183_2184insG	c.(2182-2184)gaafs	p.E728fs		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	728																	AAATGGGCTTGCCCCGAGGAGC	0.495													155	177	---	---	---	---					
WDR17	116966	broad.mit.edu	37	4	177046336	177046336	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr4:177046336delG	ENST00000393643.2	+	5	872	c.620delG	c.(619-621)tgfs	p.W207fs	WDR17_ENST00000508596.1_Frame_Shift_Del_p.W207fs|WDR17_ENST00000280190.4_Frame_Shift_Del_p.W231fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.W214fs	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	231										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCCTTGGAATGGGACCCACTA	0.363													26	147	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48314914	48314914	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:48314914delG	ENST00000435803.1	+	17	5675	c.5651delG	c.(5650-5652)agfs	p.R1884fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1884					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAATAACTAGGAAAGTGGTC	0.398													23	28	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													4	8	---	---	---	---					
CALD1	800	broad.mit.edu	37	7	134632305	134632306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:134632305_134632306insC	ENST00000361388.2	+	8	1358_1359	c.892_893insC	c.(892-894)cccfs	p.P298fs	CALD1_ENST00000424922.1_Frame_Shift_Ins_p.P266fs|CALD1_ENST00000495522.1_Frame_Shift_Ins_p.P292fs|CALD1_ENST00000417172.1_Frame_Shift_Ins_p.P272fs|CALD1_ENST00000543443.1_Frame_Shift_Ins_p.P277fs|CALD1_ENST00000422748.1_Frame_Shift_Ins_p.P298fs|CALD1_ENST00000361675.2_Frame_Shift_Ins_p.P527fs|CALD1_ENST00000393118.2_Frame_Shift_Ins_p.P292fs|CALD1_ENST00000361901.2_Frame_Shift_Ins_p.P272fs	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	527					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGCTGAGGGCGCCCCCCAGGTG	0.629													2	4	---	---	---	---					
TRBV6-9	28598	broad.mit.edu	37	7	142104297	142104297	+	RNA	DEL	T	T	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142104297delT	ENST00000390379.1	-	0	167																											TGCCTGGGTCTTGTCGATACC	0.498													124	218	---	---	---	---					
TRBV7-4	28594	broad.mit.edu	37	7	142176677	142176677	+	RNA	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142176677delG	ENST00000390369.2	-	0	49																											TGTAGTCATCGCACACACACA	0.458													23	38	---	---	---	---					
EPHB6	2051	broad.mit.edu	37	7	142562268	142562268	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:142562268delG	ENST00000392957.2	+	7	1497	c.710delG	c.(709-711)cafs	p.R237fs	EPHB6_ENST00000442129.1_Frame_Shift_Del_p.R237fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	237	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCGTGCTCCGATCCTTTGCT	0.667													67	123	---	---	---	---					
GIMAP1	170575	broad.mit.edu	37	7	150417635	150417636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr7:150417635_150417636insG	ENST00000307194.5	+	3	683_684	c.543_544insG	c.(541-546)tgggggfs	p.WG181fs		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCGAGTGCGGGGGCCGGGT	0.668													45	51	---	---	---	---					
NAT2	10	broad.mit.edu	37	8	18257911	18257912	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:18257911_18257912insG	ENST00000286479.3	+	2	505_506	c.398_399insG	c.(397-399)cccfs	p.P133fs	NAT2_ENST00000520116.1_Frame_Shift_Ins_p.P3fs	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	133					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CAGATGTGGCAGCCTCTAGAAT	0.500									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				27	23	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133899640	133899651	+	In_Frame_Del	DEL	AGCCAGCCTGCT	AGCCAGCCTGCT	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr8:133899640_133899651delAGCCAGCCTGCT	ENST00000220616.4	+	9	2063_2074	c.2023_2034delAGCCAGCCTGCT	c.(2023-2034)del	p.SQPA675del	TG_ENST00000377869.1_In_Frame_Del_p.SQPA675del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	675	Thyroglobulin type-1 6.				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)		CCTCATGGGCAGCCAGCCTGCTGGCTCCACCT	0.561													11	110	---	---	---	---					
GOLGA2	2801	broad.mit.edu	37	9	131025343	131025346	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr9:131025343_131025346delTCTC	ENST00000421699.2	-	12	890_893	c.878_881delGAGA	c.(877-882)acfs	p.RD293fs		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	293						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCTGAGGGCGTCTCTCTCTTTGGT	0.539													16	118	---	---	---	---					
OR56A4	120793	broad.mit.edu	37	11	6023323	6023324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:6023323_6023324insT	ENST00000330728.4	-	1	1100_1101	c.1055_1056insA	c.(1054-1056)agafs	p.R352fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGATCTCCTTGGTTCTCAC	0.446													37	55	---	---	---	---					
SLC35F2	54733	broad.mit.edu	37	11	107682407	107682407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr11:107682407delG	ENST00000525071.1	-	6	988	c.400delC	c.(400-402)tafs	p.L134fs	SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525815.1_Frame_Shift_Del_p.L134fs|SLC35F2_ENST00000429869.1_Frame_Shift_Del_p.L134fs|SLC35F2_ENST00000375682.4_Frame_Shift_Del_p.L87fs			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	134					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACACTGGTTAGAGTTGTGTAC	0.403													16	189	---	---	---	---					
FLT1	2321	broad.mit.edu	37	13	28959111	28959112	+	Frame_Shift_Ins	INS	-	-	AGCA			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:28959111_28959112insAGCA	ENST00000282397.4	-	14	2277_2278	c.2026_2027insTGCT	c.(2026-2028)ttcfs	p.-675fs	FLT1_ENST00000541932.1_Frame_Shift_Ins_p.-675fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGTGGTGGAACTGCTGATGGCC	0.450													9	82	---	---	---	---					
F7	2155	broad.mit.edu	37	13	113772890	113772891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr13:113772890_113772891insC	ENST00000375581.3	+	9	1004_1005	c.969_970insC	c.(967-972)ctccgafs	p.R324fs	F7_ENST00000346342.3_Frame_Shift_Ins_p.R302fs|F7_ENST00000541084.1_Frame_Shift_Ins_p.R255fs	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	324	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCTCTGCCTGCCCGAACGGAC	0.683													44	29	---	---	---	---					
RP11-652G5.1	0	broad.mit.edu	37	16	32611686	32611686	+	RNA	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:32611686delG	ENST00000562976.1	+	0	67																											actgaactttggcagtaaaca	0.408													23	23	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51173947	51173948	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:51173947_51173948delGT	ENST00000440970.1	-	2	2325_2326	c.1894_1895delAC	c.(1894-1896)tfs	p.T632fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Frame_Shift_Del_p.T729fs|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	729					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCTCCCCAGTGTGTGTCCTG	0.530													11	43	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57732863	57732863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:57732863delC	ENST00000360716.3	+	4	526	c.305delC	c.(304-306)tcfs	p.S102fs	CCDC135_ENST00000394337.4_Frame_Shift_Del_p.S102fs|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Frame_Shift_Del_p.S102fs			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	102						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACAACTTCTCCCGCCAGTAC	0.582													115	328	---	---	---	---					
AP1G1	164	broad.mit.edu	37	16	71779510	71779510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:71779510delG	ENST00000299980.4	-	18	2179	c.1738delC	c.(1738-1740)tafs	p.L581fs	AP1G1_ENST00000433195.2_Frame_Shift_Del_p.L604fs|AP1G1_ENST00000569748.1_Frame_Shift_Del_p.L581fs|AP1G1_ENST00000564155.1_Frame_Shift_Del_p.L6fs|AP1G1_ENST00000423132.2_Frame_Shift_Del_p.L584fs|AP1G1_ENST00000393512.3_Frame_Shift_Del_p.L584fs	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	581					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTCTCAAGTAGGGCAGACCTA	0.438													46	137	---	---	---	---					
PKD1L3	342372	broad.mit.edu	37	16	72025035	72025035	+	RNA	DEL	T	T	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr16:72025035delT	ENST00000534738.1	-	0	535									polycystic kidney disease 1-like 3											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						ATGTGCCATCTTAACGTGCAG	0.448													5	6	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35518811	35518811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:35518811delC	ENST00000353139.5	-	42	5714	c.5233delG	c.(5233-5235)cafs	p.A1745fs	ACACA_ENST00000360679.3_Frame_Shift_Del_p.A1650fs|ACACA_ENST00000394406.2_Frame_Shift_Del_p.A1708fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.A1630fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1708	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTCTGCCCTAGCAAGT	0.463													76	66	---	---	---	---					
SLC4A1	6521	broad.mit.edu	37	17	42328915	42328915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:42328915delG	ENST00000262418.6	-	18	2508	c.2353delC	c.(2353-2355)tgfs	p.L785fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	785	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGTACAGCCAGGGGGATGCGG	0.622													64	75	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													6	3	---	---	---	---					
SELV	348303	broad.mit.edu	37	19	40009396	40009397	+	Frame_Shift_Del	DEL	AG	AG	-	rs56149652	by1000genomes	TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:40009396_40009397delAG	ENST00000423711.1	+	4	951_952	c.851_852delAG	c.(850-852)afs	p.K284fs	SELV_ENST00000335426.4_Frame_Shift_Del_p.K284fs			P59797	SELV_HUMAN		284			K -> R (in dbSNP:rs56149652).		cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACTGAAAAAGAGCCTGGAGC	0.579													35	89	---	---	---	---					
CD37	951	broad.mit.edu	37	19	49841283	49841283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr19:49841283delC	ENST00000535669.2	+	5	558	c.444delC	c.(442-444)ttfs	p.F148fs	CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Frame_Shift_Del_p.F80fs|CD37_ENST00000598095.1_Frame_Shift_Del_p.F80fs|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Frame_Shift_Del_p.F148fs			P11049	CD37_HUMAN	CD37 molecule	148						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ATGTGCAGTTCCAGGTAAGCC	0.637													18	11	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21341819	21341819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8119-01A-11D-2238-08	TCGA-44-8119-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4504e1c0-5f2f-429e-8373-a7f35989d464	4688ba45-f2b9-4641-99af-bf4befb587b3	g.chr22:21341819delC	ENST00000215739.8	+	4	706	c.347delC	c.(346-348)gcfs	p.A116fs	LZTR1_ENST00000389355.3_Frame_Shift_Del_p.A97fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	116					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACCCCACCGGCCCCCCGTTAC	0.672													42	30	---	---	---	---