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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	84					0	0	0.009096	0	0
PRPF6	24148	broad.mit.edu	37	20	62660829	62660829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:62660829T>C	ENST00000535781.1	+	18	2522	c.2411T>C	c.(2410-2412)cTc>cCc	p.L804P	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	844					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCATGTGCTCCTGGCCGTG	0.592000													13	58					0	0	0.001855	0	0
PIK3R3	8503	broad.mit.edu	37	1	46543232	46543232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:46543232C>T	ENST00000262741.5	-	3	958	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PIK3R3_ENST00000540385.1_Missense_Mutation_p.R136Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R90Q|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R54Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	90	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGAGGCATCTCGGACCAAGAA	0.393000													25	97					0	0	0.008361	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													3	79					0	0	0.004672	0	0
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					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)		GGGTCTGTGCGGCGTCGGTGG	0.468000													52	231					0	0	0.014410	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	21					0	0	0.009096	0	0
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:50307071G>A	ENST00000330817.5	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552000													6	77					0	0	0.003080	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642000													7	18					0	0	0.001984	0	0
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1119					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						CCAGCTTGGGGCCTGTTGGCT	0.602000			T	RARA	APL								33	61					0	0	0.010818	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	95					0	0	0.001984	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552689	42552689	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:42552689G>A	ENST00000289957.2	+	0	128				CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGACATCACGATGCTCCCAG	0.393000													12	61					0	0	0.003163	0	0
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438000													5	143					0	0	0.000602	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493000													10	110					0	0	0.008291	0	0
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458000													6	161					0.000157383	0.000247317	0.003080	1	0
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAAACTGGGCCATGTAGG	0.428000													25	127					0	0	0.005443	0	0
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	9					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562000													3	101					0	0	0.004672	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGGCTCCATCACCCAGGAGG	0.622000													14	31					0	0	0.003163	0	0
PDF	64146	broad.mit.edu	37	16	69363038	69363038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:69363038A>C	ENST00000288022.1	-	2	643	c.619T>G	c.(619-621)Tgg>Ggg	p.W207G	COG8_ENST00000306875.4_3'UTR	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	207					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity			NS(1)|prostate(1)	2						CGGGCTGCCCACCCGCTCGCC	0.557000													7	60					0	0	0.004482	0	0
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552000													28	101					0	0	0.009535	0	0
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	677					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483000													47	128					3.54909e-21	6.12392e-21	0.011902	1	0
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000395146.4_Missense_Mutation_p.L464V|AFF1_ENST00000544085.1_Missense_Mutation_p.L95V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478000													9	78					0	0	0.008291	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:15556747G>A	ENST00000424120.1	+	20	2793	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468000													12	24					0	0	0.010729	0	0
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672000													3	138					0	0	0.004672	0	0
ALOX15B	247	broad.mit.edu	37	17	7942598	7942598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:7942598G>T	ENST00000380183.4	+	1	264	c.125G>T	c.(124-126)gGc>gTc	p.G42V	ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	42	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACAATCTCGGCAAGGAGTTC	0.652000													15	54					5.3912e-06	8.95143e-06	0.006122	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	95					0	0	0.001984	0	0
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567000													3	13					0	0	0.009096	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000378072.5_Silent_p.G347G|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363000													9	145					0.000274275	0.000416142	0.004482	1	0
MTR	4548	broad.mit.edu	37	1	237037075	237037075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037075T>A	ENST00000366577.5	+	23	2802	c.2408T>A	c.(2407-2409)gTt>gAt	p.V803D	MTR_ENST00000535889.1_Missense_Mutation_p.V752D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCCTCAGAGTTATTGATTTA	0.353000													6	35					0	0	0.001984	0	0
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960_splice	c.e9+1	p.Q320_splice	TRAF3_ENST00000539721.1_Splice_Site_p.Q237_splice|TRAF3_ENST00000392745.2_Splice_Site_p.Q320_splice|TRAF3_ENST00000351691.5_Splice_Site_p.Q295_splice|TRAF3_ENST00000347662.4_Splice_Site_p.Q295_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403000													3	16					0	0	0.004672	0	0
MROH7	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:55139731C>T	ENST00000414150.2	+	10	2121	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000421030.2_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F|MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F					maestro heat-like repeat family member 7																		GCTGGGGAGACTCATCCTTCA	0.488000													23	86					0	0	0.003330	0	0
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483000													57	260					0	0	0.014410	0	0
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000342173.7_Silent_p.L31L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.L31L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507000													4	52					0	0	0.009096	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	38					0	0	0.000602	0	0
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	PAOX_ENST00000357296.3_Silent_p.I250I|PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572000													10	53					2.17888e-05	3.4862e-05	0.006214	1	0
ESYT2	57488	broad.mit.edu	37	7	158528232	158528232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:158528232C>G	ENST00000251527.5	-	20	2613	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R	ESYT2_ENST00000435514.2_Missense_Mutation_p.G285R	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	878	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AGGAAGCCGCCACTGTTCTTC	0.458000													4	148					0	0	0.013537	0	0
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468000													18	186					0	0	0.006122	0	0
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:120957788G>C	ENST00000422003.2	+	8	1446	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000529397.1_Missense_Mutation_p.E420Q	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413000													8	16					0	0	0.008291	0	0
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr12:112182675C>T	ENST00000455480.2	+	14	2213	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582000													4	58					0	0	0.000602	0	0
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328000													4	19					0	0	0.000602	0	0
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGCCTTTTCTATCAAAATAA	0.303000													3	57					0	0	0.004672	0	0
MYLPF	29895	broad.mit.edu	37	16	30387481	30387481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:30387481G>T	ENST00000322861.7	+	3	193	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	38	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607000													9	45					2.52707e-12	4.27658e-12	0.006214	1	0
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542000													24	58					0	0	0.004656	0	0
MTR	4548	broad.mit.edu	37	1	237037074	237037074	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037074G>A	ENST00000366577.5	+	23	2801	c.2405_splice	c.e23-1	p.V803_splice	MTR_ENST00000535889.1_Splice_Site_p.V752_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTT	0.353000													6	35					0	0	0.001984	0	0
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:43484116A>C	ENST00000395891.1	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642000													3	20					0	0	0.004672	0	0
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000391956.4_Silent_p.H211H|ZNF180_ENST00000592529.1_Silent_p.H209H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343000													9	67					0	0	0.004482	0	0
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:117884861C>T	ENST00000439649.3	-	5	993	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C214Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587000													9	43					0	0	0.006214	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507000													34	80					0	0	0.004289	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393000													12	142					0	0	0.010729	0	0
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:70339729T>G	ENST00000333646.6	+	3	595		c.e3+2		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCAAAAAGGTAAGGTACTGT	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	8					0	0	0.009096	0	0
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:73921394C>T	ENST00000276602.6	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276603.5_Silent_p.R91R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716000													13	39					0	0	0.001855	0	0
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542000													16	250					0	0	0.006122	0	0
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAACGATTTGTGACGCCAAT	0.403000													36	74					0	0	0.004878	0	0
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:134386815C>G	ENST00000423007.1	+	10	1389	c.947C>G	c.(946-948)cCc>cGc	p.P316R	POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000372228.3_Missense_Mutation_p.P338R	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498000													28	92					0	0	0.006320	0	0
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGGACTTCAAGGTGGT	0.577000													24	31					0	0	0.002780	0	0
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692000													4	11					0.00024832	0.000383371	0.009096	1	0
PRPF6	24148	broad.mit.edu	37	20	62660829	62660829	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:62660829T>C	ENST00000535781.1	+	18	2522	c.2411T>C	c.(2410-2412)cTc>cCc	p.L804P	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	844					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCCCATGTGCTCCTGGCCGTG	0.592000													13	58					0	0	0.001855	0	0
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					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)		GGGTCTGTGCGGCGTCGGTGG	0.468000													52	231					0	0	0.014410	0	0
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:50307071G>A	ENST00000330817.5	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552000													6	77					0	0	0.003080	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642000													7	18					0	0	0.001984	0	0
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1119					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						CCAGCTTGGGGCCTGTTGGCT	0.602000			T	RARA	APL								33	61					0	0	0.010818	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552689	42552689	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr8:42552689G>A	ENST00000289957.2	+	0	128				CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGACATCACGATGCTCCCAG	0.393000													12	61					0	0	0.003163	0	0
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438000													5	143					0	0	0.000602	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912287	102912287	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:102912287A>G	ENST00000312132.4	-	0	2292																											GTGCTTCAATAATGGTCTTGA	0.279000													4	43					0	0	0.009096	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000473997.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493000													10	110					0	0	0.008291	0	0
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458000													6	161					0.000157383	0.000240076	0.003080	1	0
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAAACTGGGCCATGTAGG	0.428000													25	127					0	0	0.005443	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	11					0	0	0.004672	0	0
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	9					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562000													3	101					0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152466628	152466628	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr6:152466628T>G	ENST00000448038.1	-	138	25427	c.24826A>C	c.(24826-24828)Acc>Ccc	p.T8276P	SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8276P|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.T502P|SYNE1_ENST00000341594.5_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACCGGAGGTATTTTTGATT	0.488000										HNSCC(10;0.0054)			6	40					0	0	0.010729	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000475477.1_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGGCTCCATCACCCAGGAGG	0.622000													14	31					0	0	0.003163	0	0
PDF	64146	broad.mit.edu	37	16	69363038	69363038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:69363038A>C	ENST00000288022.1	-	2	643	c.619T>G	c.(619-621)Tgg>Ggg	p.W207G	COG8_ENST00000306875.4_3'UTR	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	207					N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity			NS(1)|prostate(1)	2						CGGGCTGCCCACCCGCTCGCC	0.557000													7	60					0	0	0.004482	0	0
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552000													28	101					0	0	0.009535	0	0
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	677					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483000													47	128					3.54909e-21	6.02676e-21	0.011902	1	0
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000395146.4_Missense_Mutation_p.L464V|AFF1_ENST00000544085.1_Missense_Mutation_p.L95V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478000													9	78					0	0	0.008291	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:15556747G>A	ENST00000424120.1	+	20	2793	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D847N			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468000													12	24					0	0	0.010729	0	0
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672000													3	138					0	0	0.004672	0	0
ALOX15B	247	broad.mit.edu	37	17	7942598	7942598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:7942598G>T	ENST00000380183.4	+	1	264	c.125G>T	c.(124-126)gGc>gTc	p.G42V	ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	42	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACAATCTCGGCAAGGAGTTC	0.652000													15	54					5.3912e-06	8.82197e-06	0.006122	1	0
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567000													3	13					0	0	0.009096	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000378072.5_Silent_p.G347G|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363000													9	145					0.000274275	0.000404668	0.004482	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	11					6.4e-05	9.93103e-05	0.004672	1	0
MTR	4548	broad.mit.edu	37	1	237037075	237037075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:237037075T>A	ENST00000366577.5	+	23	2802	c.2408T>A	c.(2407-2409)gTt>gAt	p.V803D	MTR_ENST00000535889.1_Missense_Mutation_p.V752D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCCTCAGAGTTATTGATTTA	0.353000													6	35					0	0	0.001984	0	0
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960_splice	c.e9+1	p.Q320_splice	TRAF3_ENST00000539721.1_Splice_Site_p.Q237_splice|TRAF3_ENST00000392745.2_Splice_Site_p.Q320_splice|TRAF3_ENST00000347662.4_Splice_Site_p.Q295_splice|TRAF3_ENST00000351691.5_Splice_Site_p.Q295_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403000													3	16					0	0	0.004672	0	0
MROH7	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:55139731C>T	ENST00000414150.2	+	10	2121	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000421030.2_Missense_Mutation_p.L615F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F					maestro heat-like repeat family member 7																		GCTGGGGAGACTCATCCTTCA	0.488000													23	86					0	0	0.003330	0	0
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483000													57	260					0	0	0.014410	0	0
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000488176.1_Silent_p.L31L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.L31L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507000													4	52					0	0	0.009096	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	38					0	0	0.000602	0	0
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.I250I|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572000													10	53					2.17888e-05	3.44033e-05	0.006214	1	0
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468000													18	186					0	0	0.006122	0	0
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:120957788G>C	ENST00000422003.2	+	8	1446	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000529397.1_Missense_Mutation_p.E420Q	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413000													8	16					0	0	0.008291	0	0
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr12:112182675C>T	ENST00000455480.2	+	14	2213	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L	ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582000													4	58					0	0	0.000602	0	0
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328000													4	19					0	0	0.000602	0	0
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AAGCCTTTTCTATCAAAATAA	0.303000													3	57					0	0	0.004672	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	48					0	0	0.000602	0	0
MYLPF	29895	broad.mit.edu	37	16	30387481	30387481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:30387481G>T	ENST00000322861.7	+	3	193	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	38	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607000													9	45					2.52707e-12	4.21178e-12	0.006214	1	0
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542000													24	58					0	0	0.004656	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	43					0	0	0.000602	0	0
MTR	4548	broad.mit.edu	37	1	237037074	237037074	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:237037074G>A	ENST00000366577.5	+	23	2801	c.2405_splice	c.e23-1	p.V803_splice	MTR_ENST00000535889.1_Splice_Site_p.V752_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTT	0.353000													6	35					0	0	0.001984	0	0
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:43484116A>C	ENST00000395891.1	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642000													3	20					0	0	0.004672	0	0
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000592529.1_Silent_p.H209H|ZNF180_ENST00000391956.4_Silent_p.H211H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343000													9	67					0	0	0.004482	0	0
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr10:117884861C>T	ENST00000439649.3	-	5	993	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C214Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587000													9	43					0	0	0.006214	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507000													34	80					0	0	0.004289	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393000													12	142					0	0	0.010729	0	0
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chrX:70339729T>G	ENST00000333646.6	+	3	595		c.e3+2		MED12_ENST00000374080.3_Splice_Site|MED12_ENST00000374102.1_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCAAAAAGGTAAGGTACTGT	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	8					0	0	0.009096	0	0
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr8:73921394C>T	ENST00000276602.6	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276603.5_Silent_p.R91R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716000													13	39					0	0	0.001855	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912302	102912302	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:102912302A>G	ENST00000312132.4	-	0	2277																											TCTTGAAGTAAGAATAATAAA	0.269000													6	35					0	0	0.001168	0	0
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542000													16	250					0	0	0.006122	0	0
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAACGATTTGTGACGCCAAT	0.403000													36	74					0	0	0.004878	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	21					0	0	0.004672	0	0
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:134386815C>G	ENST00000423007.1	+	10	1389	c.947C>G	c.(946-948)cCc>cGc	p.P316R	POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Missense_Mutation_p.P338R|POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498000													28	92					0	0	0.006320	0	0
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGGACTTCAAGGTGGT	0.577000													24	31					0	0	0.002780	0	0
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692000													4	11					0.00024832	0.00037248	0.009096	1	0
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs147453611	by1000genomes	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:1650883_1650885delTCT	ENST00000356200.3	-	3	369_371	c.135_137delAGA	c.(133-138)gat>ga	p.ED45del	CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394													21	386	---	---	---	---					
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)ccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632													37	86	---	---	---	---					
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.4	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tfs	p.CWT702fs	TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	702						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389													9	128	---	---	---	---					
FCHSD2	9873	broad.mit.edu	37	11	72696108	72696108	+	Splice_Site	DEL	T	T	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:72696108delT	ENST00000409314.1	-	7	743	c.576_splice	c.e7+1	p.K192_splice	FCHSD2_ENST00000311172.7_Splice_Site_p.K136_splice|FCHSD2_ENST00000409853.1_Splice_Site_p.K136_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.K192_splice|FCHSD2_ENST00000458644.2_Splice_Site_p.K32_splice			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	192							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAAACTTACCTTTACACTTGC	0.289													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acfs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|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.?(12)		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)	GACTGAAAACAAATATTTTGC	0.338		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)			13	22	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549						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)					GTGGAGTTTTGGACCAGCTGA	0.537													38	129	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)taa>t	p.FE1601del	IQGAP1_ENST00000560738.1_In_Frame_Del_p.FE1029del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345													9	33	---	---	---	---					
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs147453611	by1000genomes	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:1650883_1650885delTCT	ENST00000356200.3	-	3	369_371	c.135_137delAGA	c.(133-138)gat>ga	p.ED45del	CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394													21	386	---	---	---	---					
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)ccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632													37	86	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													8	17	---	---	---	---					
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.4	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tfs	p.CWT702fs	TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	702						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389													9	128	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acfs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|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.?(12)		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)	GACTGAAAACAAATATTTTGC	0.338		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)			13	22	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549						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)					GTGGAGTTTTGGACCAGCTGA	0.537													38	129	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)taa>t	p.FE1601del	IQGAP1_ENST00000560738.1_In_Frame_Del_p.FE1029del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345													9	33	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													4	8	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													3	3	---	---	---	---