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
AIMP2	7965	broad.mit.edu	37	7	6049111	6049111	+	Silent	SNP	G	G	A	rs150986274		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:6049111G>A	ENST00000223029.3	+	1	236	c.117G>A	c.(115-117)ccG>ccA	p.P39P	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.P39P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	39					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCCAGCGCCGGGCGCTGGCC	0.761000													4	102					0	0	1	0	0
CT47A6	728062	broad.mit.edu	37	X	120094386	120094386	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:120094386G>T	ENST00000443600.2	-	1	951	c.697C>A	c.(697-699)Cca>Aca	p.P233T	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	233										large_intestine(1)|lung(4)	5						TCTGTGGCTGGTTCCTCTGCG	0.687000													4	11					0.150653	0.153728	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234112925	234112925	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:234112925G>A	ENST00000359570.5	+	28	3093	c.3093G>A	c.(3091-3093)ccG>ccA	p.1031_1031insP	INPP5D_ENST00000455936.2_Missense_Mutation_p.795_795insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.795_795insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.P1043P(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAAATGCCGCGGAAGGAAC	0.647000													63	65					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116414969	116414969	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:116414969C>T	ENST00000397752.3	+	15	3263	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	MET_ENST00000318493.6_Silent_p.C1039C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1021					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGTTCATGCCGACAAGTGC	0.413000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	229					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38991258	38991258	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:38991258G>A	ENST00000355481.4	+	46	7467	c.7336G>A	c.(7336-7338)Ggc>Agc	p.G2446S	RYR1_ENST00000359596.3_Missense_Mutation_p.G2446S|RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2446	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)	AATCCAAGCCGGCAAGGGTGA	0.637000													36	42					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109561295	109561295	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:109561295G>A	ENST00000262844.5	-	1	172	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	2										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAACCCGCCGCCATCTTGGA	0.706000													7	17					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502000													158	213					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370141	56370141	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:56370141C>T	ENST00000301295.6	+	3	1804	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	461	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGTGCCGCCTTGTTCTAT	0.512000													33	137					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316389	11316389	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:11316389A>T	ENST00000380712.3	+	5	246	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.R46W	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	46					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAGAGCATAAGGCCACCGGT	0.353000													5	482					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133872	55133872	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:55133872A>C	ENST00000257290.5	+	7	1416	c.1085A>C	c.(1084-1086)gAg>gCg	p.E362A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	362	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATCTCACTGAGATCACCACT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	93					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791806	42791806	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791806G>T	ENST00000572681.2	+	6	3487	c.3419G>T	c.(3418-3420)aGc>aTc	p.S1140I	CIC_ENST00000575354.2_Missense_Mutation_p.S231I|CIC_ENST00000160740.3_Missense_Mutation_p.S231I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGACCGTCAGCAAGATCCTG	0.622000			"""Mis, F, S"""		oligodendroglioma								45	40					5.37117e-13	6.10361e-13	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149179	129149179	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:129149179G>A	ENST00000540052.1	+	3	2475	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T	BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T|BCORL1_ENST00000218147.7_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	811					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGGGGCCGGCAAATATTTA	0.572000													4	249					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58368278	58368278	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:58368278T>C	ENST00000463280.1	+	2	231	c.140T>C	c.(139-141)tTg>tCg	p.L47S	PXK_ENST00000536660.1_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000383716.3_Missense_Mutation_p.L47S|PXK_ENST00000356151.2_Missense_Mutation_p.L80S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000302779.5_Missense_Mutation_p.L63S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCCAAAAAATTGATTGGTAAC	0.338000													12	123					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24578065	24578065	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:24578065G>A	ENST00000336812.4	-	2	464	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	103					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGCATGTCCGGCATGCGTTGA	0.458000													4	208					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3268422	3268422	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr20:3268422C>T	ENST00000252032.9	-	27	2409	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	C20orf194_ENST00000453730.2_Silent_p.S489S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	781								p.R781H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATGATTTGGCGATACACCAT	0.522000													4	195					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658663	73658663	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:73658663C>T	ENST00000420326.2	-	4	826	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	RECQL5_ENST00000340830.5_Missense_Mutation_p.A223T|RECQL5_ENST00000317905.5_Missense_Mutation_p.A223T|RECQL5_ENST00000584999.1_Missense_Mutation_p.A223T|RECQL5_ENST00000423245.2_Missense_Mutation_p.A196T	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	223					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAGGTTGGCCCGGAAGCAG	0.532000								Other identified genes with known or suspected DNA repair function					5	602					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622000			"""Mis, F, S"""		oligodendroglioma								10	50					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								75	95					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428000													4	274					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433000													7	461					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66909479	66909479	+	Missense_Mutation	SNP	G	G	A	rs141923622	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:66909479G>A	ENST00000359742.4	-	7	884	c.644C>T	c.(643-645)aCg>aTg	p.T215M	GRIP1_ENST00000398016.3_Missense_Mutation_p.T215M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	215	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCAGCATGCGTAGTTCCAAG	0.453000													67	171					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404716	113404716	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:113404716C>T	ENST00000272542.3	+	2	850	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	104					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGCTGATGGCCGGCTCAGTC	0.488000													4	131					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11312154	11312154	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:11312154C>T	ENST00000295083.3	+	5	633	c.458C>T	c.(457-459)tCt>tTt	p.S153F	PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F|PQLC3_ENST00000476787.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	153						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAGCCTCTCTTCCTATACC	0.507000													5	183					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149739	1149739	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:1149739C>T	ENST00000358220.1	+	10	1068	c.924C>T	c.(922-924)taC>taT	p.Y308Y	WDR37_ENST00000263150.4_Silent_p.Y308Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	308										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAAACCTGTACGACGTGGAGA	0.612000													39	48					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14266957	14266957	+	Silent	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:14266957C>A	ENST00000340736.6	-	18	3402	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1035					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGCTTGAGCACAGATGAGC	0.667000													4	36					2.56e-06	2.7234e-06	1	1	0
FRMD4B	23150	broad.mit.edu	37	3	69230684	69230684	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:69230684C>T	ENST00000542259.1	-	22	2506	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	FRMD4B_ENST00000398540.3_Silent_p.E739E|FRMD4B_ENST00000478263.1_Silent_p.E391E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	739						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACAGTAATACTCTGTGCTTG	0.493000													65	160					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061654	38061654	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:38061654C>T	ENST00000250448.2	-	2	396	c.335G>A	c.(334-336)gGc>gAc	p.G112D	FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	112					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGCCCATGCCGCTCGGGCT	0.741000													3	35					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99250419	99250419	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr9:99250419G>A	ENST00000375249.4	+	7	1123	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	350					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCGGAAACCCGCCAATGACAT	0.532000													4	243					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													4	244					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318000													5	309					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201862255	201862255	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:201862255A>C	ENST00000418596.2	-	8	726	c.539T>G	c.(538-540)gTc>gGc	p.V180G	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	180						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAACTCAGGACTTCAAACCT	0.358000													5	162					0	0	1	0	0
GOLGA6L10	0	broad.mit.edu	37	15	82635194	82635194	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr15:82635194T>C	ENST00000439287.4	-	9	1475	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN		459										endometrium(1)|kidney(4)	5						TGCAGCCTCTTCTGCTCCTCC	0.507000													3	21					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306946	61306946	+	Silent	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318000													86	119					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	116163760	116163760	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:116163760T>C	ENST00000490035.1	-	1	618	c.119A>G	c.(118-120)aAc>aGc	p.N40S	LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	40	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CACGGTGATGTTGTCCGTGCC	0.572000													10	92					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41052996	41052996	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:41052996G>A	ENST00000253801.2	+	1	182	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	G6PC_ENST00000592383.1_Missense_Mutation_p.V35M|G6PC_ENST00000585489.1_Missense_Mutation_p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGTGTCCGTGATCGCAGA	0.498000													4	233					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; 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)		ATCCTGCACTCGTCGATGTCT	0.458000													10	161					4.68919e-08	5.21021e-08	1	1	0
MPZL2	10205	broad.mit.edu	37	11	118133674	118133674	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr11:118133674C>T	ENST00000278937.2	-	2	325	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCTAGAGGACGAAAATTCCA	0.468000													147	196					0	0	1	0	0
NFYA	4800	broad.mit.edu	37	6	41059406	41059407	+	Frame_Shift_Ins	INS	-	-	GTGGTCAA			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr6:41059406_41059407insGTGGTCAA	ENST00000341376.6	+	7	888_889	c.687_688insGTGGTCAA	c.(685-690)aatggtfs	p.NG229fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.NG200fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	229					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCAGGCAATGTGGTCAATTC	0.436													47	130	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24833288	24833289	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:24833288_24833289delAG	ENST00000376451.2	+	14	4398_4399	c.4138_4139delAG	c.(4138-4140)afs	p.R1380fs	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.R1697fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1697					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTCTTCCAACAGAGATTCTGTT	0.505													36	136	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													6	7	---	---	---	---					
SNX29P2	0	broad.mit.edu	37	16	29438362	29438363	+	RNA	DEL	AT	AT	-	rs151067447		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr16:29438362_29438363delAT	ENST00000398878.3	+	0	5991																											TTCATATATCATATGACTTCTA	0.322													9	4	---	---	---	---