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
ATP9A	10079	broad.mit.edu	37	20	50241784	50241784	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr20:50241784G>A	ENST00000338821.5	-	18	2227	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	ATP9A_ENST00000311637.5_Silent_p.L519L|ATP9A_ENST00000402822.1_Silent_p.L534L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	655					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTGCCTGCAGCTGGTCCTCC	0.642000													18	43					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330363	58330363	+	Missense_Mutation	SNP	C	C	T	rs145693547		TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr20:58330363C>T	ENST00000371015.1	+	4	952	c.485C>T	c.(484-486)aCg>aTg	p.T162M	PHACTR3_ENST00000541461.1_Missense_Mutation_p.T121M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T159M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T121M|PHACTR3_ENST00000395639.4_Missense_Mutation_p.T121M	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	162						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.T162M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCACTGGGACGGACCAGGTC	0.607000													16	28					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284256	152284256	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:152284256G>T	ENST00000368799.1	-	3	3141	c.3106C>A	c.(3106-3108)Cgc>Agc	p.R1036S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	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)			TGCTGGTGGCGGGATCCGTGT	0.567000									Ichthyosis				194	580					5.98996e-96	7.04701e-96	1	1	0
LRRC36	55282	broad.mit.edu	37	16	67409314	67409314	+	Splice_Site	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr16:67409314C>T	ENST00000329956.6	+	10	1678	c.1660_splice	c.e10+1	p.L553_splice	LRRC36_ENST00000563189.1_Splice_Site_p.L432_splice|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000290940.7_Splice_Site_p.L285_splice|LRRC36_ENST00000541146.1_Splice_Site_p.S74_splice	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	553										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGAAGTTTCTCGGTGAGTGAA	0.522000													46	109					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7049238	7049238	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr18:7049238T>C	ENST00000389658.3	-	5	700	c.607A>G	c.(607-609)Aat>Gat	p.N203D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	203	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCTGCCATTGATGAGTGAT	0.398000													24	88					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119066179	119066179	+	Splice_Site	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:119066179C>G	ENST00000371410.3	-	6	904	c.737_splice	c.e6-1	p.S246_splice	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TATATTTCTTCCTATAGGGAT	0.328000													19	39					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229134	140229134	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr5:140229134A>C	ENST00000378122.3	+	1	1778	c.1054A>C	c.(1054-1056)Atc>Ctc	p.I352L	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.I352L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGTTGACTATCAAAACGCT	0.507000													4	87					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216100	20216100	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:20216100C>T	ENST00000331723.1	+	1	514	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTGTGGGCCCAATGAACT	0.522000													11	83					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48679335	48679335	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr3:48679335G>A	ENST00000544264.1	-	33	9068	c.8788C>T	c.(8788-8790)Cgg>Tgg	p.R2930W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2925W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2925					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGTGGCCGTTGGAAGCGC	0.627000													3	9					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896334	151896334	+	RNA	SNP	G	G	A	rs2515828	by1000genomes	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:151896334G>A	ENST00000361201.4	-	0	396					NR_073432.1													p.P26P(2)		endometrium(2)|kidney(2)|lung(1)	5						GTTCCCTTCCGGGTTGTCTTG	0.527000													3	35					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408679	40408679	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:40408679C>T	ENST00000221347.6	-	8	4167	c.4160G>A	c.(4159-4161)tGt>tAt	p.C1387Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1387	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAGGCCACACATCTGCTG	0.572000													13	81					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447857	11447857	+	Silent	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:11447857C>G	ENST00000222120.3	-	2	479	c.219G>C	c.(217-219)ctG>ctC	p.L73L	RAB3D_ENST00000589655.1_Silent_p.L73L	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	73					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CCCAGATCTGCAGCTTGATCC	0.547000													29	211					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17918915	17918915	+	Silent	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:17918915G>T	ENST00000262097.6	-	10	1067	c.756C>A	c.(754-756)ctC>ctA	p.L252L	ASAH1_ENST00000417108.2_Silent_p.L162L|ASAH1_ENST00000314146.10_Silent_p.L246L|ASAH1_ENST00000520781.1_Silent_p.L227L|ASAH1_ENST00000381733.4_Silent_p.L268L	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	252					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CTGTTCTAGTGAGGAACCCTA	0.333000													17	39					2.37509e-13	2.61478e-13	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47447462	47447462	+	Silent	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr3:47447462C>A	ENST00000265562.4	+	6	549	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	PTPN23_ENST00000431726.1_Silent_p.R32R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	158	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCCTACCTACGGGAGCACTT	0.622000													14	19					2.32078e-09	2.48655e-09	1	1	0
PSG6	5675	broad.mit.edu	37	19	43411811	43411811	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:43411811C>T	ENST00000187910.2	-	4	967	c.902G>A	c.(901-903)aGa>aAa	p.R301K	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.R301K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGTTTCATTTCTCGTGACACT	0.488000													10	303					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266615	107266615	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:107266615G>C	ENST00000334726.2	+	1	161	c.72G>C	c.(70-72)caG>caC	p.Q24H		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAAGTTCAGGTCATCATAT	0.418000													7	67					0	0	1	0	0
MRPS14	63931	broad.mit.edu	37	1	174983830	174983830	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:174983830G>A	ENST00000476371.1	-	3	378	c.362C>T	c.(361-363)tCt>tTt	p.S121F	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	121					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CTGGATCCCAGAAAGTTGCCC	0.502000													8	107					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678914	100678914	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr7:100678914C>T	ENST00000306151.4	+	3	4281	c.4217C>T	c.(4216-4218)aCg>aTg	p.T1406M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1406	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)					GTCAGCACCACGCCGGTAGTC	0.507000													148	251					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149133780	149133780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr7:149133780C>A	ENST00000247930.4	-	5	1548	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	409	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTGGCTGTTCCCCACAGGGG	0.602000													10	56					3.86212e-05	3.9953e-05	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108338891	108338891	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr10:108338891G>A	ENST00000344440.6	-	26	3489	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S	SORCS1_ENST00000369698.1_Missense_Mutation_p.P699S|SORCS1_ENST00000263054.6_Intron	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCTGGCCAGGCCTCCTTAGT	0.493000													17	37					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	38					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816195	55816195	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:55816195G>A	ENST00000309383.1	+	14	1901	c.1624G>A	c.(1624-1626)Ggt>Agt	p.G542S	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G558S|BRSK1_ENST00000326848.7_Missense_Mutation_p.G237S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	542					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCCCCGGCGGTGGCGTCGG	0.721000													5	13					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153684	5153684	+	Silent	SNP	A	A	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:5153684A>T	ENST00000307388.1	-	1	188	c.189T>A	c.(187-189)atT>atA	p.I63I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAAAAAAATGTACATGG	0.378000													10	48					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148211	34148211	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:34148211C>T	ENST00000346193.3	-	1	2236	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	729										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGTCAAGAACGTCAGGTTCA	0.438000													22	54					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760589	133760589	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:133760589C>T	ENST00000318560.5	+	11	3293	c.2912C>T	c.(2911-2913)cCg>cTg	p.P971L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	971	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCGCCAAGCCGTCGGGGACC	0.667000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	67					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522663	45522663	+	Silent	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr21:45522663C>T	ENST00000291574.4	+	22	3526	c.3351C>T	c.(3349-3351)gtC>gtT	p.V1117V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1117					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTCAGTTGTCGACAACAGTA	0.577000													55	146					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411957	43411957	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:43411957C>G	ENST00000187910.2	-	4	821	c.756G>C	c.(754-756)gaG>gaC	p.E252D	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E252D	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CATCCTTCTTCTCCCTGGGGT	0.498000													13	245					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635443	32635443	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:32635443G>A	ENST00000242310.4	-	1	224	c.135C>T	c.(133-135)atC>atT	p.I45I	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	45					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)		CCGCTCCACTGATGTTGCCGA	0.567000													15	80					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33925215	33925215	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr15:33925215C>T	ENST00000389232.4	+	24	3003	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L	RYR3_ENST00000415757.3_Missense_Mutation_p.P978L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	978	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)		CTGTTACCTCCTCAAGAAATT	0.383000													5	54					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													4	29					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17581258	17581258	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:17581258C>T	ENST00000262102.6	-	4	2596	c.2372G>A	c.(2371-2373)aGt>aAt	p.S791N	MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	791						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAGCGCAGGACTTTTCAAAGA	0.463000													8	79					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691894	116691894	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:116691894C>A	ENST00000357780.3	-	3	994	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCAGGTGCCCACCCAGCTCT	0.657000													11	49					3.86212e-05	3.9953e-05	1	1	0
TATDN3	128387	broad.mit.edu	37	1	212988451	212988451	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:212988451A>G	ENST00000366974.4	+	10	872	c.778A>G	c.(778-780)Aat>Gat	p.N260D	TATDN3_ENST00000526641.1_Missense_Mutation_p.N239D|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000366973.4_Missense_Mutation_p.N259D|TATDN3_ENST00000531963.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.N267D	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	260						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GACGACACAGAATGCATTAAA	0.423000													9	126					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704937	23704937	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:23704937T>C	ENST00000397312.2	-	4	740	c.466A>G	c.(466-468)Att>Gtt	p.I156V	ELAVL2_ENST00000544538.1_Missense_Mutation_p.I156V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.I156V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.I156V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.I185V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	156	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCGACAAGAATACGAGAAGTA	0.428000													5	98					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175323572	175323572	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:175323572G>C	ENST00000367674.1	-	18	4045	c.3337C>G	c.(3337-3339)Cag>Gag	p.Q1113E	TNR_ENST00000263525.2_Missense_Mutation_p.Q1113E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1113	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGGTGTCCTGTGCTGCCTGC	0.552000													21	69					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65417588	65417588	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:65417588C>A	ENST00000519389.1	+	10	1906	c.1727C>A	c.(1726-1728)cCc>cAc	p.P576H	HEPH_ENST00000441993.2_Missense_Mutation_p.P525H|HEPH_ENST00000343002.2_Missense_Mutation_p.P522H|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.P255H|HEPH_ENST00000374727.3_Missense_Mutation_p.P525H			Q9BQS7	HEPH_HUMAN	hephaestin	522	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						TGGACAGTCCCCCCTCATGCC	0.507000													3	15					6.4e-05	6.5641e-05	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212442	26212442	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:26212442G>A	ENST00000379034.1	+	2	628	c.479G>A	c.(478-480)gGt>gAt	p.G160D		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	160	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCTGATGCAGGTGTTTCAGGC	0.507000													9	20					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630606	140630606	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:140630606G>A	ENST00000520439.1	-	2	1083	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	KCNK9_ENST00000303015.1_Silent_p.S340S			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	340						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTTTTAATGTGCTTGGTGAGA	0.552000													18	63					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48951075	48951075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr13:48951075G>T	ENST00000267163.4	+	13	1375	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	413	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(9)|p.N406fs*4(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCAAAAGAAAGTATACT	0.348000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			20	40					2.4624e-09	2.61493e-09	1	1	0
LINC00303	284573	broad.mit.edu	37	1	204006451	204006451	+	RNA	SNP	G	G	A	rs41264275	by1000genomes	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:204006451G>A	ENST00000367207.3	-	0	569																											GGGGGTATGGGCAAAGGAGTG	0.522000													4	26					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29469879	29469879	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr12:29469879C>G	ENST00000182377.4	+	9	1329	c.1061C>G	c.(1060-1062)gCg>gGg	p.A354G	FAR2_ENST00000536681.2_Missense_Mutation_p.A354G|FAR2_ENST00000547116.1_Missense_Mutation_p.A257G|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	354					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TACTGGAATGCGGTCAGCCAC	0.493000													8	203					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220835284	220835284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:220835284C>T	ENST00000402574.1	+	17	2716	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.R685*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.R722*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	722					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAGAGAAATCCGAAAAGTGTT	0.428000													33	84					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845768	32845768	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:32845768G>A	ENST00000311921.3	+	2	2224	c.2032G>A	c.(2032-2034)Gcg>Acg	p.A678T	ZNF507_ENST00000544431.1_Missense_Mutation_p.A678T|ZNF507_ENST00000355898.5_Missense_Mutation_p.A678T|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGAGCACATAGCGGACAACAG	0.463000													10	67					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													8	176					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651236	90651236	+	Silent	SNP	C	C	T	rs112153420	byFrequency	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:90651236C>T	ENST00000282146.4	+	2	1557	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	372						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGATGGCCAACGGCTGCCCCC	0.597000													9	30					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251524	216251524	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:216251524C>T	ENST00000366943.2	-	27	5865	c.5479G>A	c.(5479-5481)Gga>Aga	p.G1827R	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1827R|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1827	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTGGTCTCCGGACTCCGAT	0.418000										HNSCC(13;0.011)			70	123					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323889	31323889	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr18:31323889G>A	ENST00000269197.5	+	12	4077	c.4077G>A	c.(4075-4077)ttG>ttA	p.L1359L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1359					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						GCTCTGTCTTGATTCCCCCAA	0.483000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	194					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411107	43411107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:43411107C>A	ENST00000187910.2	-	5	1272	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	PSG6_ENST00000402603.4_Nonsense_Mutation_p.E310*|PSG6_ENST00000292125.2_Nonsense_Mutation_p.E403*	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGGAGATTTCCTTGCCAGTG	0.448000													19	323					2.37509e-13	2.61478e-13	1	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914545	94914545	+	Nonsense_Mutation	SNP	G	G	T	rs146841701		TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:94914545G>T	ENST00000334708.3	-	2	631	c.567C>A	c.(565-567)taC>taA	p.Y189*	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	189					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CGACTTGCCCGTATGTTTGCC	0.458000													47	107					2.37825e-27	2.74413e-27	1	1	0
ATM	472	broad.mit.edu	37	11	108199921	108199921	+	Missense_Mutation	SNP	A	A	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:108199921A>C	ENST00000278616.4	+	49	7648	c.7263A>C	c.(7261-7263)aaA>aaC	p.K2421N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.K2421N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2421	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGAGCCAAAGAGGAAGTAG	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	28					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127666324	127666324	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr5:127666324G>A	ENST00000508053.1	-	39	5260	c.4286C>T	c.(4285-4287)cCg>cTg	p.P1429L	FBN2_ENST00000262464.4_Missense_Mutation_p.P1429L|FBN2_ENST00000507835.1_Missense_Mutation_p.P279L|FBN2_ENST00000508989.1_Missense_Mutation_p.P1396L			P35556	FBN2_HUMAN	fibrillin 2	1429	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTATGAGCCCGGGGTATTTAC	0.498000													10	39					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159273	18159273	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:18159273C>T	ENST00000396275.2	+	3	885	c.524C>T	c.(523-525)aCg>aTg	p.T175M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	175						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGTGTGAAACGTCAGATTTC	0.512000													24	112					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21771068	21771068	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:21771068C>G	ENST00000276420.4	-	1	303	c.45G>C	c.(43-45)caG>caC	p.Q15H	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	15	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACGTCTGCTGCTGCTGAAGAT	0.577000													9	66					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113813888	113813888	+	Missense_Mutation	SNP	G	G	A	rs145795113	byFrequency	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:113813888G>A	ENST00000260191.2	+	7	1138	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	HTR3B_ENST00000537778.1_Missense_Mutation_p.R283Q	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	294					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGGTGCCACGGAGTGTAGGG	0.562000													7	21					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													8	173					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27982579	27982579	+	Splice_Site	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr17:27982579C>T	ENST00000269033.3	-	11	1149	c.998_splice	c.e11+1	p.G333_splice	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.G360_splice	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	333	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTGCTTACCCTCGGTTCTG	0.418000													8	70					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850496	35850496	+	Missense_Mutation	SNP	T	T	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:35850496T>G	ENST00000327809.4	+	2	905	c.704T>G	c.(703-705)cTt>cGt	p.L235R	FFAR3_ENST00000594310.1_Missense_Mutation_p.L235R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	235						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCAACTTCCTTGTCTGCTTT	0.637000													12	205					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063774	7063774	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:7063774G>A	ENST00000299481.4	+	4	863	c.517G>A	c.(517-519)Ggt>Agt	p.G173S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	173					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTCAAAACCGGTGCACAGCC	0.473000													4	69					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542774	55542774	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:55542774T>C	ENST00000220676.1	+	4	6480	c.6332T>C	c.(6331-6333)gTt>gCt	p.V2111A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2111					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTTGCCAAGTTGAGACCTCC	0.328000													7	50					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394961	94394961	+	Silent	SNP	T	T	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:94394961T>A	ENST00000267594.5	+	3	823	c.516T>A	c.(514-516)gcT>gcA	p.A172A	FAM181A_ENST00000556222.1_Silent_p.A110A|FAM181A_ENST00000557719.1_Silent_p.A110A|FAM181A_ENST00000557000.2_Silent_p.A110A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	172										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AATGTCTTGCTAAGGAGCAGC	0.627000													13	23					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12854848	12854848	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr3:12854848G>C	ENST00000456430.2	+	7	1008	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	CAND2_ENST00000295989.5_Missense_Mutation_p.E230Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	323					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGGATGAGGAGCAGATGGA	0.537000													11	34					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27722063	27722063	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:27722063G>A	ENST00000264717.2	+	6	546	c.483G>A	c.(481-483)gaG>gaA	p.E161E	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	161	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACGGGATTGAGGAACTGAAGA	0.512000													6	64					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35648014	35648014	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr8:35648014T>C	ENST00000287272.2	+	16	2608	c.2588T>C	c.(2587-2589)cTc>cCc	p.L863P	UNC5D_ENST00000416672.1_Missense_Mutation_p.L937P|UNC5D_ENST00000404895.2_Missense_Mutation_p.L932P|UNC5D_ENST00000420357.1_Missense_Mutation_p.L865P|UNC5D_ENST00000453357.2_Missense_Mutation_p.L927P|UNC5D_ENST00000449677.1_Missense_Mutation_p.L508P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	932	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACACGAAACTCTCAAACATT	0.498000													8	72					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638315	46638315	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr16:46638315G>A	ENST00000303383.3	-	6	1014	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	250										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGAGACAACAGATTGTGGTAG	0.388000													6	154					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083666	152083666	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:152083666T>C	ENST00000368804.1	-	2	2026	c.2027A>G	c.(2026-2028)cAt>cGt	p.H676R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	676	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCCTCATGCTCGCGCTT	0.647000													9	139					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781546	52781546	+	Missense_Mutation	SNP	G	G	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:52781546G>C	ENST00000245457.5	+	1	434	c.280G>C	c.(280-282)Gcg>Ccg	p.A94P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	94						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GGCTTCGTACGCGCGGAACCA	0.637000													14	47					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048630	6048630	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:6048630G>T	ENST00000316650.5	-	1	341	c.305C>A	c.(304-306)cCt>cAt	p.P102H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	102					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)		GAAGCAGGCAGGGAAGCTGAT	0.552000													20	75					5.03518e-11	5.44344e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179594052	179594052	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:179594052G>A	ENST00000589042.1	-	64	19055	c.18831C>T	c.(18829-18831)ggC>ggT	p.G6277G	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G5033G|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G5960G|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5960	Ig-like 44.						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)			AGCAGCTGCCGCCTTCATTGG	0.413000													18	80					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81122481	81122481	+	Missense_Mutation	SNP	T	T	C			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr4:81122481T>C	ENST00000339711.4	+	9	1488	c.257T>C	c.(256-258)cTc>cCc	p.L86P	PRDM8_ENST00000504452.1_Missense_Mutation_p.L86P|PRDM8_ENST00000415738.2_Missense_Mutation_p.L86P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	86	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCAGAAGGTCTCATGTGGCTG	0.512000													10	33					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47462785	47462785	+	Silent	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr16:47462785C>T	ENST00000320640.6	-	6	813	c.585G>A	c.(583-585)ttG>ttA	p.L195L	ITFG1_ENST00000544001.2_Silent_p.L82L	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	195						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)				TTGTAGTGGTCAATGCTGGAT	0.299000													17	49					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72311436	72311436	+	Splice_Site	SNP	T	T	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr15:72311436T>A	ENST00000356056.5	-	6	1571	c.1098_splice	c.e6-1	p.I367_splice	MYO9A_ENST00000564571.1_Splice_Site_p.I367_splice|MYO9A_ENST00000563542.1_Intron|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Splice_Site_p.I367_splice|MYO9A_ENST00000444904.1_Intron|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	367	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTTGTTATCTGAAAGTAA	0.403000													24	42					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926208	1926208	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:1926208C>T	ENST00000399161.2	-	10	2080	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T	MYT1L_ENST00000428368.2_Missense_Mutation_p.A445T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	445					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGCCTTTGCTCTTTCCGTT	0.547000													8	112					0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93399080	93399080	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:93399080C>G	ENST00000216492.5	+	7	1454	c.1174C>G	c.(1174-1176)Cga>Gga	p.R392G	CHGA_ENST00000334654.4_Missense_Mutation_p.R241G	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701000													6	8					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94417428	94417428	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:94417428G>T	ENST00000555019.1	-	6	1227	c.797C>A	c.(796-798)tCc>tAc	p.S266Y	ASB2_ENST00000315988.4_Missense_Mutation_p.S218Y|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	218					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCGTTCTTGGATTCCACCTT	0.607000													23	91					9.65021e-13	1.05275e-12	1	1	0
DDX39B	7919	broad.mit.edu	37	6	31507049	31507049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr6:31507049G>A	ENST00000417556.2	-	3	844	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	DDX39B_ENST00000458640.1_Nonsense_Mutation_p.Q72*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Intron|DDX39B_ENST00000449074.2_Nonsense_Mutation_p.Q72*|DDX39B_ENST00000396172.1_Nonsense_Mutation_p.Q72*|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.Q72*			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	72					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACTCATGCTGGACTAAAAGT	0.498000													21	89					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984476	73984476	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr4:73984476C>T	ENST00000358602.4	-	22	4233	c.4117G>A	c.(4117-4119)Gtg>Atg	p.V1373M	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.V1122M|ANKRD17_ENST00000509867.2_Missense_Mutation_p.V1260M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1373					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTGCTTGCACCAGTAACTGA	0.458000													26	116					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr17:7577082C>G	ENST00000420246.2	-	8	988	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	TP53_ENST00000269305.4_Missense_Mutation_p.E286Q|TP53_ENST00000455263.2_Missense_Mutation_p.E286Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286Q|TP53_ENST00000445888.2_Missense_Mutation_p.E286Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	25					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51755688	51755688	+	Silent	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:51755688G>A	ENST00000447632.2	-	16	1638	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	TTC39A_ENST00000262675.7_Silent_p.S467S|TTC39A_ENST00000413473.2_Silent_p.S498S|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Silent_p.S495S|TTC39A_ENST00000451380.1_Silent_p.S494S|TTC39A_ENST00000530004.1_Silent_p.S138S			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	530							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGGCAGAGATGCTCCTAAAAT	0.532000													11	31					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32658783	32658783	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:32658783A>G	ENST00000421745.2	+	13	3454	c.3320A>G	c.(3319-3321)aAa>aGa	p.K1107R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1107					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGACTTCAAATTCGTTTTG	0.363000													6	13					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876304	148876304	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr7:148876304G>A	ENST00000420008.2	+	6	1615	c.827G>A	c.(826-828)aGa>aAa	p.R276K	ZNF398_ENST00000335901.4_Missense_Mutation_p.R276K|ZNF398_ENST00000540950.1_Missense_Mutation_p.R452K|ZNF398_ENST00000491174.1_Missense_Mutation_p.R276K|ZNF398_ENST00000426851.2_Missense_Mutation_p.R276K|ZNF398_ENST00000475153.1_Missense_Mutation_p.R447K|ZNF398_ENST00000483892.1_Missense_Mutation_p.R276K	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	447					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)			AGCCACCGGAGAGCTCATGCA	0.597000													37	83					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580644	99580644	+	Missense_Mutation	SNP	C	C	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:99580644C>G	ENST00000481138.1	-	6	2322	c.1661G>C	c.(1660-1662)aGa>aCa	p.R554T	ZNF782_ENST00000535338.1_Missense_Mutation_p.R422T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGTGTGAATTCTATGATGTCC	0.423000													35	132					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10319475	10319475	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr12:10319475G>T	ENST00000309539.3	-	3	320	c.260C>A	c.(259-261)gCc>gAc	p.A87D	OLR1_ENST00000544577.1_Missense_Mutation_p.A87D|OLR1_ENST00000545927.1_Missense_Mutation_p.A87D|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000432556.2_Missense_Mutation_p.A87D	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	87	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TTGTTGCCGGGCTGAGATCTG	0.453000													29	86					1.75199e-13	1.96484e-13	1	1	0
PKD2	5311	broad.mit.edu	37	4	88967857	88967857	+	Missense_Mutation	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr4:88967857G>T	ENST00000237596.2	+	6	1449	c.1383G>T	c.(1381-1383)aaG>aaT	p.K461N	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	461						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGCCTTTAAAGCTGATCCGAT	0.358000													18	83					1.37522e-17	1.57168e-17	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119903647	119903647	+	Missense_Mutation	SNP	T	T	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:119903647T>A	ENST00000313400.4	-	4	1226	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.S376C			O75129	ASTN2_HUMAN	astrotactin 2	376						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						GCCGATGTGCTGCGCAGGGGT	0.587000													12	39					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694450	42694450	+	Silent	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr20:42694450C>A	ENST00000358131.5	+	6	1213	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A	TOX2_ENST00000341197.3_Silent_p.A353A|TOX2_ENST00000372999.1_Silent_p.A311A|TOX2_ENST00000423191.1_Silent_p.A311A|TOX2_ENST00000435864.2_Silent_p.A231A	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGCCTGGCCTCCTTCCTGA	0.652000													57	166					4.6707e-30	5.44159e-30	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83402034	83402034	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chrX:83402034C>T	ENST00000262752.2	-	5	380	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D125N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	125	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACCAGTATATCCCTCTCCATC	0.279000													8	15					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213792	200213792	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:200213792C>T	ENST00000443023.1	-	6	2093	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SATB2_ENST00000457245.1_Missense_Mutation_p.E269K|SATB2_ENST00000417098.1_Missense_Mutation_p.E269K|SATB2_ENST00000260926.5_Missense_Mutation_p.E269K|SATB2_ENST00000428695.1_Missense_Mutation_p.E151K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	269						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGACTGTTCGTTGGTTTTC	0.498000													6	61					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976466	38976466	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr19:38976466G>A	ENST00000355481.4	+	34	5302	c.5171G>A	c.(5170-5172)cGc>cAc	p.R1724H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1724H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1724H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1724	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGCCTGCCGCAGCCGCCGC	0.637000													28	67					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17122454	17122454	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr17:17122454G>A	ENST00000285071.4	-	9	1395	c.941C>T	c.(940-942)cCa>cTa	p.P314L	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	314					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTACTCTCTGGCAACACAGG	0.567000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				25	188					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229783307	229783307	+	Silent	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr1:229783307C>T	ENST00000258243.2	+	7	4093	c.3957C>T	c.(3955-3957)gtC>gtT	p.V1319V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1319						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCACAGTGGTCGGGCCTGTCT	0.537000													4	76					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113770046	113770046	+	Missense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr13:113770046C>A	ENST00000375581.3	+	6	538	c.503C>A	c.(502-504)aCc>aAc	p.T168N	F7_ENST00000346342.3_Missense_Mutation_p.T146N|F7_ENST00000541084.1_Missense_Mutation_p.T99N	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	168	EGF-like 2.				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)	CACACGGGCACCAAGCGCTCC	0.612000													9	23					4.68919e-08	4.93599e-08	1	1	0
EHBP1	23301	broad.mit.edu	37	2	63101530	63101530	+	Missense_Mutation	SNP	G	G	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:63101530G>A	ENST00000263991.5	+	11	1635	c.1153G>A	c.(1153-1155)Gta>Ata	p.V385I	EHBP1_ENST00000431489.1_Missense_Mutation_p.V350I|EHBP1_ENST00000405289.1_Missense_Mutation_p.V350I|EHBP1_ENST00000405015.3_Missense_Mutation_p.V350I|EHBP1_ENST00000354487.3_Missense_Mutation_p.V350I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	385						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATAATTTGGTAAATCCTGT	0.358000													24	63					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94417427	94417427	+	Silent	SNP	G	G	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:94417427G>T	ENST00000555019.1	-	6	1228	c.798C>A	c.(796-798)tcC>tcA	p.S266S	ASB2_ENST00000315988.4_Silent_p.S218S|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	218					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGGCGTTCTTGGATTCCACCT	0.607000													23	91					8.4185e-14	9.53038e-14	1	1	0
OGN	4969	broad.mit.edu	37	9	95163461	95163461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:95163461C>A	ENST00000262551.4	-	3	601	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Nonsense_Mutation_p.E61*	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	61						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCACAGTTTCTTTTTCCTAT	0.333000													9	47					0.0477658	0.0477658	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413308	124413308	+	Silent	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:124413308C>T	ENST00000306842.2	-	1	267	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CAAAACTCATCAGCATTTTGG	0.428000													4	72					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310682	178310682	+	Missense_Mutation	SNP	A	A	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr5:178310682A>G	ENST00000322434.3	+	5	1455	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			GAAAAGCCCTATAGATGCAAT	0.383000													12	59					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045340	40045340	+	RNA	SNP	G	G	C	rs17439810	by1000genomes	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr4:40045340G>C	ENST00000381811.2	-	0	809					NR_027277.1																						TCCTGCTCCTGCCGGAAATAC	0.582000													3	35					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329142	88329142	+	Missense_Mutation	SNP	C	C	T			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr13:88329142C>T	ENST00000325089.6	+	2	1718	c.1499C>T	c.(1498-1500)aCt>aTt	p.T500I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T259I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	500						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGTCTGGAACTTTTGACCCG	0.537000													10	44					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367623	3367623	+	Silent	SNP	A	A	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr16:3367623A>G	ENST00000574298.1	+	6	1118	c.645A>G	c.(643-645)aaA>aaG	p.K215K	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGGAATAAAACCATATAAAT	0.358000													15	56					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20691082	20691082	+	Missense_Mutation	SNP	C	C	T	rs145374843	byFrequency	TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr7:20691082C>T	ENST00000404938.2	+	13	2024	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	ABCB5_ENST00000258738.6_Missense_Mutation_p.R13W|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000406935.1_Missense_Mutation_p.R13W|ABCB5_ENST00000443026.2_Missense_Mutation_p.R13W	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	13	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTAAATGTGCGGCATTATCG	0.408000													19	70					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832470	130832471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:130832470_130832471insG	ENST00000357462.5	-	15	2667_2668	c.2574_2575insC	c.(2572-2577)ggtcacfs	p.H859fs	POTEF_ENST00000409914.2_Frame_Shift_Ins_p.H859fs			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	859	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGTGGGTGACCCCGTCACCAG	0.604													12	146	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
ERCC6L2	375748	broad.mit.edu	37	9	98703772	98703774	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr9:98703772_98703774delTGT	ENST00000288985.7	+	12	2126_2128	c.1821_1823delTGT	c.(1819-1824)aat>aa	p.NV607del	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_In_Frame_Del_p.NV418del	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	607	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TCGGTGCCAATGTTGTTGTATTA	0.365													14	54	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71725333	71725339	+	Frame_Shift_Del	DEL	CAGACCA	CAGACCA	-			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr11:71725333_71725339delCAGACCA	ENST00000393695.3	-	15	3541_3547	c.3210_3216delTGGTCTG	c.(3208-3216)cgfs	p.RGL1070fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.RGL1070fs|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1070					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGCTGCCTCCAGACCACGAAGCTTGG	0.560			T	RARA	APL								11	132	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248769	75248769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:75248769delG	ENST00000325680.7	+	4	2147	c.2023delG	c.(2023-2025)tgfs	p.V675fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.V675fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.V480fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTACTCCTGTGTCTTTTGG	0.512													19	39	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203658	90203660	+	RNA	DEL	CTC	CTC	-	rs10140344		TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr14:90203658_90203660delCTC	ENST00000555070.1	-	0	170																											TATTTCTTTTCTCTTTCTTTCtt	0.355													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293153	102293155	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr15:102293153_102293155delCTC	ENST00000561463.1	+	0	1199_1201																											AGTTCATCTTCTCAGAGCTGCTG	0.571													2	4	---	---	---	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)del	p.E409del	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													3	6	---	---	---	---					
LRRC37A4P	55073	broad.mit.edu	37	17	43590674	43590675	+	RNA	INS	-	-	A			TCGA-93-A4JN-01A-11D-A24P-08	TCGA-93-A4JN-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbcca4d-8366-40a4-ac6c-395bf681bf2e	d82b3d99-88b9-4e72-89a3-36f13701553b	g.chr17:43590674_43590675insA	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAAAAAAACAAAAAAAAAAC	0.332													2	4	---	---	---	---					
