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
DKC1	1736	broad.mit.edu	37	X	154003524	154003524	+	Silent	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	uc004fmm.3	+	12	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	DKC1_uc010nvf.3_Silent_p.V433V	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	438					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCAGGTAGTTGCCGAAGCAG	0.468000									Congenital Dyskeratosis				39	49					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	uc010arz.2	+	11	1897	c.1447G>C	c.(1447-1449)Gag>Cag	p.E483Q	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Missense_Mutation_p.E270Q|ZNF410_uc001xoz.2_Missense_Mutation_p.E466Q|ZNF410_uc001xpb.2_Missense_Mutation_p.E419Q|ZNF410_uc010tug.2_Missense_Mutation_p.E197Q|ZNF410_uc010tuh.2_Missense_Mutation_p.E393Q|ZNF410_uc010tuj.2_Missense_Mutation_p.E270Q	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443000													40	54					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704689	37704689	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	uc003xkk.3	-	2	349	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498000													18	25					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	uc011apz.2	+	5	1227	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	MPPED1_uc011apv.2_Missense_Mutation_p.G263S|MPPED1_uc011apw.2_Missense_Mutation_p.G157S|MPPED1_uc011apx.2_Missense_Mutation_p.G105S|MPPED1_uc011apy.2_Missense_Mutation_p.G263S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	263							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632000													20	139					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346615	71346615	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	uc011cat.2	+	3	442	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	52						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458000													4	98					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	uc003lod.1	-	0	454	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527000													52	82					0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66126377	66126377	+	RNA	SNP	T	T	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:66126377T>C	uc002jgq.3	+	5		c.5500T>C								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		ACATGCACTGTTGCAATGCAG	0.363000													4	190					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	uc002pay.1	-	2	174	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	45										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642000													5	229					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	uc010fzd.1	-	12	2558	c.2433C>A	c.(2431-2433)aaC>aaA	p.N811K	ANKMY1_uc002vzb.1_Missense_Mutation_p.N483K|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N722K|ANKMY1_uc002vza.1_Missense_Mutation_p.N498K|ANKMY1_uc002vzd.1_Missense_Mutation_p.N545K	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	722							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592000													20	20					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	uc002dhe.3	+	3	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_uc002dhd.1_Missense_Mutation_p.E182D	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587000													25	37					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	uc002ucx.3	-	27	5496	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	SCN3A_uc010zcy.2_Missense_Mutation_p.I151M|SCN3A_uc002ucy.3_Missense_Mutation_p.I1619M|SCN3A_uc002ucz.3_Missense_Mutation_p.I1619M	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1668						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGATGGCATAGATAAACATGA	0.458000													31	39					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153042366	153042366	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	uc010nuk.2	+	29	5198	c.4927C>T	c.(4927-4929)Ctc>Ttc	p.L1643F	PLXNB3_uc004fii.2_Missense_Mutation_p.L1620F|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1259F|SRPK3_uc004fik.3_5'UTR	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1620					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682000													11	10					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	uc004bsc.3	-	6	1871	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_uc010mxo.3_Nonsense_Mutation_p.K417*|SH2D3C_uc004bry.3_Nonsense_Mutation_p.K419*|SH2D3C_uc004brz.4_Nonsense_Mutation_p.K223*|SH2D3C_uc011mak.2_Nonsense_Mutation_p.K223*|SH2D3C_uc004bsb.3_Nonsense_Mutation_p.K509*|SH2D3C_uc004bsa.3_Nonsense_Mutation_p.K420*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	577					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622000													18	115					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	uc003dns.2	-	0	441	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_uc003dnt.2_Missense_Mutation_p.E78K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	78						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATGCCTTTTCCCAATACATA	0.463000													3	2					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	uc001zwx.2	-	19	2811	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	806	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTACCTTCACATGTTTTT	0.358000													12	13					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118797459	118797459	+	Silent	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	uc011mtw.1	-	3	490	c.417C>A	c.(415-417)atC>atA	p.I139I	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I109I|SEPT6_uc004ert.3_Silent_p.I109I|SEPT6_uc004eru.3_Silent_p.I109I|SEPT6_uc004erv.3_Silent_p.I109I|SEPT6_uc004erw.3_Silent_p.I51I|SEPT6_uc011mtv.1_Silent_p.I51I	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.	109					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCTCTTTGTTGATCTGGTCCC	0.557000			T	MLL	AML								19	282					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44055183	44055183	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	uc002rtn.3	-	4	713	c.573G>A	c.(571-573)ggG>ggA	p.G191G	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Silent_p.G110G|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	191	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGAAATGCCCCCCAAGCTGT	0.592000													10	54					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	uc002ezr.3	-	2	362	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Nonsense_Mutation_p.R71*|HYDIN_uc010vmc.2_Nonsense_Mutation_p.R88*|HYDIN_uc010vmd.2_Nonsense_Mutation_p.R98*|HYDIN_uc002ezw.4_Nonsense_Mutation_p.R88*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	71										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCTGTGGTCGGCACATCAAA	0.463000													3	73					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	uc002axj.3	-	13	1758	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	STRA6_uc002axi.3_Missense_Mutation_p.Q236H|STRA6_uc010ulh.2_Missense_Mutation_p.Q465H|STRA6_uc002axk.3_Missense_Mutation_p.Q427H|STRA6_uc002axl.3_Missense_Mutation_p.Q359H|STRA6_uc010bji.3_Missense_Mutation_p.Q427H|STRA6_uc021sqg.1_Missense_Mutation_p.Q442H|STRA6_uc002axm.3_Missense_Mutation_p.Q427H|STRA6_uc002axn.3_Missense_Mutation_p.Q418H|STRA6_uc010uli.2_Missense_Mutation_p.Q464H|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	427					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612000													84	107					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	uc002iai.2	-	6	629	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	MLX_uc002iaf.3_3'UTR|MLX_uc002iag.3_3'UTR|MLX_uc002iah.3_3'UTR|PSMC3IP_uc002iaj.3_Missense_Mutation_p.K133Q|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Missense_Mutation_p.K184Q|PSMC3IP_uc010wgn.1_Missense_Mutation_p.K117Q|PSMC3IP_uc010wgo.1_Non-coding_Transcript	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.	196					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488000													17	13					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	uc001qpp.3	-	28	4714	c.4550T>G	c.(4549-4551)gTc>gGc	p.V1517G	CHD4_uc001qpn.3_Missense_Mutation_p.V1485G|CHD4_uc001qpo.3_Missense_Mutation_p.V1492G|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTAGTAAGGACATGCTGGCG	0.542000													4	53					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	uc001dnc.3	-	6	1218	c.681C>G	c.(679-681)ttC>ttG	p.F227L	GBP5_uc001dnd.3_Missense_Mutation_p.F227L|GBP5_uc001dne.1_Missense_Mutation_p.F227L	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	227						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368000													15	16					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57015114	57015114	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	uc002eki.2	+	11	1248	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	CETP_uc002ekj.2_Silent_p.L337L	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	397					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547000													13	28					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153668409	153668409	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	uc004fli.4	+	4	852	c.510C>T	c.(508-510)gaC>gaT	p.D170D	GDI1_uc011mzo.1_Silent_p.D170D|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	170					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)					GCATGCGTGACGTCTACCGGA	0.572000													8	468					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	uc002tca.3	+	11	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	755						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.E754K(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532000													3	107					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	uc002gjd.2	+	10	1988	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	CHD3_uc002gje.2_Missense_Mutation_p.K603N|CHD3_uc002gjf.2_Missense_Mutation_p.K603N|CHD3_uc002gjg.1_Missense_Mutation_p.K431N	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	603	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGATGGGAAGAGCGACAAGC	0.512000													36	53					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-	rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	uc001epu.2	+	1	1157	c.1104delG	c.(1102-1104)gagfs	p.E368fs	GJA8_uc021ovm.1_Frame_Shift_Del_p.E368fs	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	368					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E368D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612													2	4	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	uc003kju.3	+	69	14540	c.14444delA	c.(14443-14445)gaafs	p.E4815fs	GPR98_uc003kjt.3_Frame_Shift_Del_p.E2521fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.E476fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4815					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448													2	4	---	---	---	---					
CALD1	800	broad.mit.edu	37	7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	uc003vrz.3	+	4	1570_1571	c.1104_1105insC	c.(1102-1107)gaggagfs	p.E368fs	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Ins_p.E232fs	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	368	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gggcagcagaggagaggCAAAG	0.505													2	4	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	uc003ytw.3	+	29	5713_5714	c.5672_5673insA	c.(5671-5673)ctafs	p.L1891fs	TG_uc010mdw.3_Frame_Shift_Ins_p.L650fs|TG_uc011ljb.2_Frame_Shift_Ins_p.L260fs|TG_uc011ljc.2_Frame_Shift_Ins_p.L45fs|TG_uc010mdx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1891					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGCAAACCTATGGTGCCTTT	0.480													26	34	---	---	---	---