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
HEPACAM	220296	broad.mit.edu	37	11	124793256	124793256	+	Silent	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr11:124793256G>A	ENST00000298251.4	-	4	1188	c.783C>T	c.(781-783)gcC>gcT	p.A261A		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	261					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GTTTCCAGCAGGCACAGACTG	0.483000													54	66					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179613495	179613495	+	Silent	SNP	G	G	A	rs146750710	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr2:179613495G>A	ENST00000360870.5	-	46	13854	c.13632C>T	c.(13630-13632)gaC>gaT	p.D4544D	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	676	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D4544D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGTGCGTCAAATTCTT	0.328000													17	27					0	0	0.006122	0	0
MROH2B	133558	broad.mit.edu	37	5	41038885	41038885	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038885G>C	ENST00000399564.4	-	21	2617	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q278E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATGATATCTTGATTAAGTCTG	0.483000													10	43					0	0	0.008291	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965978	35965978	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:35965978C>A	ENST00000274278.3	-	4	710	c.353G>T	c.(352-354)gGg>gTg	p.G118V	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G84V|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G64V|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G118V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	118						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATTGAGTCCCAAATATTTC	0.294000													7	24					0.000157383	0.000284164	0.003080	1	0
MYO3A	53904	broad.mit.edu	37	10	26465754	26465754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465754C>T	ENST00000265944.5	+	31	4584	c.4418C>T	c.(4417-4419)tCt>tTt	p.S1473F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1473					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACGAGTTTCTTCTCAGCAG	0.378000													5	75					0	0	0.001984	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416237	135416237	+	RNA	SNP	A	A	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:135416237A>T	ENST00000602301.1	-	0	49					NR_030583.2																						AGAGATGGACAGATAGAAAGT	0.478000													7	20					0	0	0.001984	0	0
IGHJ6	28475	broad.mit.edu	37	14	106329439	106329439	+	RNA	SNP	C	C	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:106329439C>A	ENST00000390560.2	-	0	29																											TCCCTTTGCCCCAGACGTCCA	0.537000													3	10					0.004672	0.00820757	0.004672	1	0
MROH2B	133558	broad.mit.edu	37	5	41058209	41058209	+	Silent	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41058209G>A	ENST00000399564.4	-	7	1162	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TACTGGTTCAGGAGCCAGGGC	0.547000													14	29					0	0	0.028581	0	0
FMN2	56776	broad.mit.edu	37	1	240255958	240255958	+	Silent	SNP	C	C	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:240255958C>A	ENST00000319653.9	+	1	779	c.549C>A	c.(547-549)atC>atA	p.I183I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	183					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			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)			ACACGGACATCTATAGCTTCC	0.632000													25	43					8.16721e-17	1.56138e-16	0.010818	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962013	10962013	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr12:10962013T>C	ENST00000240691.2	-	1	754	c.662A>G	c.(661-663)gAc>gGc	p.D221G		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	221					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTACTGGGGTCTCTGAACCC	0.468000													25	27					0	0	0.024334	0	0
PTK7	5754	broad.mit.edu	37	6	43098054	43098054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:43098054C>T	ENST00000230419.4	+	4	778	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PTK7_ENST00000349241.2_Missense_Mutation_p.T186M|PTK7_ENST00000481273.1_Missense_Mutation_p.T194M|PTK7_ENST00000345201.2_Missense_Mutation_p.T186M|PTK7_ENST00000352931.2_Missense_Mutation_p.T186M|PTK7_ENST00000471863.1_Missense_Mutation_p.T186M	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	186	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGGAACCTGACGCTCCGGCCA	0.592000													20	34					0	0	0.010504	0	0
GMPPB	29925	broad.mit.edu	37	3	49759540	49759540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:49759540G>A	ENST00000480687.1	-	9	925	c.809C>T	c.(808-810)cCc>cTc	p.P270L	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.P270L|GMPPB_ENST00000308388.6_Missense_Mutation_p.P270L			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	270					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCACATTGGGGCCAATGCT	0.602000													19	38					0	0	0.012319	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	44					0	0	0.009096	0	0
AADACL4	343066	broad.mit.edu	37	1	12726393	12726393	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:12726393C>A	ENST00000376221.1	+	4	871	c.871C>A	c.(871-873)Ccc>Acc	p.P291T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	291						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGACAACATCCCCAAGAAATT	0.512000													33	60					7.65355e-07	1.42137e-06	0.012213	1	0
MROH2B	133558	broad.mit.edu	37	5	41039647	41039647	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41039647G>C	ENST00000399564.4	-	20	2414	c.1964C>G	c.(1963-1965)tCt>tGt	p.S655C	MROH2B_ENST00000506092.2_Missense_Mutation_p.S210C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCTAAAATAGATGTTATTCC	0.303000													3	14					0	0	0.004672	0	0
BRINP3	339479	broad.mit.edu	37	1	190067167	190067167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:190067167G>A	ENST00000367462.3	-	8	2513	c.2282C>T	c.(2281-2283)aCg>aTg	p.T761M	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.T659M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		761						extracellular region		p.T761R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TAATTTGGTCGTGTCATAATC	0.398000													59	52					0	0	0.014410	0	0
GRK7	131890	broad.mit.edu	37	3	141497272	141497272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:141497272G>A	ENST00000264952.2	+	1	283	c.146G>A	c.(145-147)cGc>cAc	p.R49H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	49					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGGAGCTCCGCCAGAAGCTG	0.682000													15	10					0	0	0.028581	0	0
MROH2B	133558	broad.mit.edu	37	5	41038949	41038949	+	Silent	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:41038949G>A	ENST00000399564.4	-	21	2553	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	MROH2B_ENST00000506092.2_Silent_p.V256V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATGACCATGACATCTGTCT	0.453000													9	46					0	0	0.008291	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409032	79409032	+	Silent	SNP	C	C	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr17:79409032C>T	ENST00000307745.7	+	9	657	c.657C>T	c.(655-657)ctC>ctT	p.L219L																								ACCGCTTCCTCGTGGGCAAAG	0.706000													4	29					0	0	0.014758	0	0
AMACR	23600	broad.mit.edu	37	5	33989591	33989591	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr5:33989591A>T	ENST00000382072.2	-	4	606	c.595T>A	c.(595-597)Tga>Aga	p.*199R	AMACR_ENST00000382085.3_Silent_p.S252S|AMACR_ENST00000502637.1_Silent_p.S237S|AMACR_ENST00000335606.6_Silent_p.S252S|AMACR_ENST00000514195.1_5'UTR	NM_203382.2	NP_976316.1	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	0					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAAGTTCATCAGACTTTAGTC	0.373000													7	16					0	0	0.004482	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274753	160274753	+	Silent	SNP	T	T	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:160274753T>A	ENST00000264431.4	+	22	4142	c.3723T>A	c.(3721-3723)gcT>gcA	p.A1241A		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1241					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACTTGATGCTGCTGACAGTG	0.537000													41	68					0	0	0.013114	0	0
ACBD3	64746	broad.mit.edu	37	1	226349297	226349297	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:226349297C>G	ENST00000366812.5	-	4	717	c.663G>C	c.(661-663)agG>agC	p.R221S	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	221	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cccgtcgaagcctttcctctt	0.463000													13	4					0	0	0.013537	0	0
PDGFC	56034	broad.mit.edu	37	4	157688986	157688986	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr4:157688986C>G	ENST00000502773.1	-	5	1350	c.860G>C	c.(859-861)tGt>tCt	p.C287S	PDGFC_ENST00000541126.1_Missense_Mutation_p.C124S|PDGFC_ENST00000542208.1_Missense_Mutation_p.C132S|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	287					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATTGTGGAGACAACAGGCACA	0.418000													21	33					0	0	0.012319	0	0
RYR2	6262	broad.mit.edu	37	1	237777500	237777500	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:237777500A>G	ENST00000366574.2	+	37	5389	c.5072A>G	c.(5071-5073)aAc>aGc	p.N1691S	RYR2_ENST00000360064.6_Missense_Mutation_p.N1689S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1675S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1691	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCATTGAGAACAAGTACATG	0.562000													23	27					0	0	0.012319	0	0
MCF2L	23263	broad.mit.edu	37	13	113719307	113719307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:113719307G>A	ENST00000397030.1	+	7	800	c.763G>A	c.(763-765)Ggg>Agg	p.G255R	MCF2L_ENST00000375597.4_Missense_Mutation_p.G220R|MCF2L_ENST00000421756.1_Missense_Mutation_p.G226R|MCF2L_ENST00000375608.3_Missense_Mutation_p.G252R|MCF2L_ENST00000434480.2_Missense_Mutation_p.G228R|MCF2L_ENST00000535094.2_Missense_Mutation_p.G222R|MCF2L_ENST00000423482.2_Missense_Mutation_p.G220R|MCF2L_ENST00000375604.2_Missense_Mutation_p.G279R|MCF2L_ENST00000375601.3_Missense_Mutation_p.G226R|MCF2L_ENST00000442652.2_Missense_Mutation_p.G252R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	252					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCAGTCCTTCGGGACCGAGCT	0.552000													20	10					0	0	0.008871	0	0
CAB39L	81617	broad.mit.edu	37	13	49906228	49906228	+	Splice_Site	SNP	T	T	C			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr13:49906228T>C	ENST00000355854.4	-	8	1188		c.e8-2		CAB39L_ENST00000410043.1_Splice_Site|CAB39L_ENST00000409130.1_Splice_Site|CAB39L_ENST00000409308.1_Splice_Site|CAB39L_ENST00000347776.5_Splice_Site	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like						cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CCCTAGCAGCTAGAGGAAAAC	0.428000													22	43					0	0	0.014323	0	0
MYO3A	53904	broad.mit.edu	37	10	26465722	26465722	+	Silent	SNP	C	C	T			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr10:26465722C>T	ENST00000265944.5	+	31	4552	c.4386C>T	c.(4384-4386)gtC>gtT	p.V1462V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1462					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCTGGGTGTCTCGCACCATA	0.368000													6	76					0	0	0.003080	0	0
NTRK1	4914	broad.mit.edu	37	1	156838323	156838323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr1:156838323delC	ENST00000368196.3	+	6	721	c.601delC	c.(601-603)ccfs	p.P201fs	NTRK1_ENST00000358660.3_Frame_Shift_Del_p.P201fs|NTRK1_ENST00000392302.2_Frame_Shift_Del_p.P171fs|NTRK1_ENST00000524377.1_Frame_Shift_Del_p.P201fs	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	201	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGTCCAGGTGCCCAATGCCTC	0.692			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			2	4	---	---	---	---					
PRSS50	29122	broad.mit.edu	37	3	46759228	46759229	+	In_Frame_Ins	INS	-	-	AGC	rs143449678	by1000genomes	TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr3:46759228_46759229insAGC	ENST00000460241.1	-	6	1756_1757	c.86_87insGCT	c.(85-87)cct>cGCTct	p.29_29P>RS	PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS			Q9UI38	TSP50_HUMAN	protease, serine, 50	29					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.L32_R33insL(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCAACAGAAGCAGCAGCAG	0.728													4	4	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cct>cGCAct	p.226_226P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													5	6	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	3	---	---	---	---					
EVL	51466	broad.mit.edu	37	14	100594926	100594927	+	Frame_Shift_Ins	INS	-	-	C	rs150744633		TCGA-EE-A20I-06A-11D-A196-08	TCGA-EE-A20I-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	302d8099-cade-45f6-ae3d-3bb4f5f09697	93fd9a89-134f-4ba7-8289-902750bc136b	g.chr14:100594926_100594927insC	ENST00000544450.2	+	6	853_854	c.570_571insC	c.(568-573)ccccccfs	p.PP190fs	EVL_ENST00000392920.3_Frame_Shift_Ins_p.PP186fs|EVL_ENST00000402714.2_Frame_Shift_Ins_p.PP184fs			Q9UI08	EVL_HUMAN	Enah/Vasp-like	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688													6	11	---	---	---	---					
