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
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572													27	97	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572													12	84	---	---	---	---
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000421127.2	-	11	1665	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577													5	22	---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363													7	72	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000529945.1	-	9	2564	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313431.9_Silent_p.L709L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD								5	350	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20.				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)	ACAATCTGTTTCTTGATCACA	0.458													8	81	---	---	---	---
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408													19	87	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000512091.2	+	8	1973	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363													10	39	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652													5	40	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGCAGACTTTTTGAAGGGTC	0.453													26	93	---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													18	84	---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657													4	37	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87407079	87407079	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	GRID1_ENST00000536331.1_Silent_p.F262F|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)			8	331	---	---	---	---
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433													31	159	---	---	---	---
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667													3	21	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532													31	151	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597													8	30	---	---	---	---
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000313182.2_Silent_p.L450L					von Willebrand factor A domain containing 9																		TCAGCAGGTCCAGGAAACCAA	0.527													5	42	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483													8	72	---	---	---	---
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657													21	143	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	ACPT_ENST00000270594.3_Splice_Site_p.G236E	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612													4	35	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000450632.1	-	10	1575	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627													27	89	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363													12	15	---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393													6	69	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587													21	45	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32972737	32972738	+	Frame_Shift_Ins	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000544455.1	+	27	10314_10315	c.10087_10088insT	c.(10087-10089)atafs	p.I3363fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3363					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAATTTATATCTGTCAGT	0.381			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	63	---	---	---	---
