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
SCN9A	6335	broad.mit.edu	37	2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	ENST00000375387.4	-	27	6310	c.5970G>C	c.(5968-5970)taG>taC	p.*1990Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y|SCN9A_ENST00000409435.1_Nonstop_Mutation_p.*1989Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	0						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATGAAGCTCTATTTTTTGC	0.318000													11	17					0	0	0.069234	0	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			34	76					0	0	0.074837	0	0
RPUSD1	113000	broad.mit.edu	37	16	837367	837367	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	ENST00000561734.1	-	2	536	c.293C>T	c.(292-294)gCt>gTt	p.A98V	RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	98					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657000													8	14					0	0	0.047766	0	0
ADM	133	broad.mit.edu	37	11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	ENST00000528655.1	+	1	637	c.20C>T	c.(19-21)gCc>gTc	p.A7V	ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Missense_Mutation_p.A7V			P35318	ADML_HUMAN	adrenomedullin	7					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642000													43	56					0	0	0.111260	0	0
ABCF1	23	broad.mit.edu	37	6	30553911	30553911	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	ENST00000326195.8	+	18	1826	c.1713_splice	c.e18-1	p.E572_splice	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Splice_Site_p.E534_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	572					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552000													29	40					0	0	0.108266	0	0
PTGES	9536	broad.mit.edu	37	9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	ENST00000340607.4	-	2	168	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	45					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592000													3	51					0	0	0.115264	0	0
COL3A1	1281	broad.mit.edu	37	2	189853339	189853339	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	ENST00000304636.3	+	7	776	c.606C>A	c.(604-606)ccC>ccA	p.P202P	COL3A1_ENST00000317840.5_Silent_p.P202P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	202	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAAGGACCCCCTGGTGAAC	0.328000													3	84					0.150653	0.155361	0.150653	1	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:124887093C>T	ENST00000356219.3	-	15	1652	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000													2	3					0	0	0.115264	0	0
ATP2A2	488	broad.mit.edu	37	12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	ENST00000395494.2	+	9	1702	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.Y407C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	407	Interacts with phospholamban 1 (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423000													81	126					0	0	0.139131	0	0
KMT2A	4297	broad.mit.edu	37	11	118343146	118343146	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:118343146C>T	ENST00000534358.1	+	3	1295	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	KMT2A_ENST00000389506.5_Silent_p.T424T|KMT2A_ENST00000354520.4_Silent_p.T424T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCATTAAGACCCCTCGGCGGT	0.473000													4	193					0	0	0.014758	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77354989	77354989	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:77354989C>T	ENST00000282849.5	-	15	2692	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	758	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCTTTATGCTGGTTGAGGT	0.403000													5	203					0	0	0.014758	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917464	32917464	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	ENST00000374843.4	-	3	661	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_ENST00000395303.3_Silent_p.F158F|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	192						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478000													4	102					0	0	0.150653	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	ENST00000290881.7	-	3	1452	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M			Q68EN5	K895L_HUMAN	KIAA0895-like	176								p.V176L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582000													36	88					0	0	0.064281	0	0
SLA	6503	broad.mit.edu	37	8	134050906	134050906	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:134050906T>G	ENST00000338087.5	-	9	1513	c.694A>C	c.(694-696)Agc>Cgc	p.S232R	SLA_ENST00000517648.1_Missense_Mutation_p.S205R|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	232	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GAGGCAATGCTCTCTCGAAGG	0.532000													7	99					0	0	0.139131	0	0
VASH1	22846	broad.mit.edu	37	14	77239567	77239567	+	Silent	SNP	A	A	G	rs2075772	by1000genomes	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr14:77239567A>G	ENST00000554237.1	+	4	1036	c.543A>G	c.(541-543)tcA>tcG	p.S181S	VASH1_ENST00000556038.1_Intron|VASH1_ENST00000167106.4_Intron			Q7L8A9	VASH1_HUMAN	vasohibin 1	0					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		p.S181S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATCCTTCCTCACCTGAAGGGG	0.582000													4	73					0	0	0.014758	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913279	170913279	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	ENST00000361618.3	-	3	787	c.480C>T	c.(478-480)gcC>gcT	p.A160A	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	160						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512000													7	159					0	0	0.038147	0	0
ANKRD42	338699	broad.mit.edu	37	11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	ENST00000393392.2	+	10	1295	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000531895.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	378										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343000													3	38					0	0	0.150653	0	0
SPATS2	65244	broad.mit.edu	37	12	49890689	49890689	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	ENST00000553127.1	+	9	1113	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438000													69	94					0	0	0.139131	0	0
CROCCP2	0	broad.mit.edu	37	1	16945358	16945358	+	RNA	SNP	G	G	C	rs945905	by1000genomes	TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161																											AGTAGGAGAAGAGAGAGGAAG	0.567000													5	40					0	0	0.014758	0	0
ABCB7	22	broad.mit.edu	37	X	74332769	74332769	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	ENST00000253577.3	-	3	312	c.288T>C	c.(286-288)tgT>tgC	p.C96C	ABCB7_ENST00000373394.3_Silent_p.C95C|ABCB7_ENST00000339447.4_Silent_p.C95C	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	95					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438000													9	244					0	0	0.069234	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	ENST00000407997.3	+	2	499	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507000													3	51					0.00909568	0.0096825	0.150653	1	0
MITF	4286	broad.mit.edu	37	3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	ENST00000352241.4	+	3	732	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_ENST00000448226.2_Missense_Mutation_p.N190S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.N165S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	190					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						41	70					0	0	0.086207	0	0
GPT	2875	broad.mit.edu	37	8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	ENST00000394955.2	+	9	1416	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	GPT_ENST00000528431.1_Missense_Mutation_p.N398S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	398					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGGTCTTCAATGAGGCTCCT	0.692000													5	9					0	0	0.029380	0	0
PBX2P1	0	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													4	3	---	---	---	---					
GTF2IRD1P1	0	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													6	10	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)agfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													7	323	---	---	---	---					
RP11-15J10.8	0	broad.mit.edu	37	9	70117581	70117581	+	RNA	DEL	G	G	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:70117581delG	ENST00000588215.1	-	0	82																											GGTCTTCAGAGGTTTACCCTC	0.423													3	3	---	---	---	---					
MEN1	0	broad.mit.edu	37	11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	ENST00000337652.1	-	3	1020	c.517delC	c.(517-519)tgfs	p.L173fs	MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	173			L -> P (in MEN1).|Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGAGACCCAGGGCCTGGCAG	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				21	41	---	---	---	---					
