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
DNMT3A	1788	broad.mit.edu	37	2	25467186	25467186	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	uc002rgc.3	-	14	1946	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_uc002rgd.3_Silent_p.V563V|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Silent_p.V374V	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	563	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.V563V(2)|p.C562Y(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627000			"""Mis, F, N, S"""		AML								8	27					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21808232	21808232	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:21808232G>A	uc001ber.3	+	12	1926	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	NBPF3_uc001bes.3_Missense_Mutation_p.E470K|NBPF3_uc009vqb.3_Missense_Mutation_p.E514K|NBPF3_uc010odm.2_Missense_Mutation_p.E456K	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	526	NBPF 4.					cytoplasm		p.E526K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGAGGAAGAACACGTTGG	0.458000													16	39					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	uc002fct.3	-	0	228	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CLEC18B_uc002fcu.3_Missense_Mutation_p.R10W|CLEC18B_uc010vmu.1_Missense_Mutation_p.R10W|CLEC18B_uc010vmw.1_Missense_Mutation_p.R10W	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	10						extracellular region	sugar binding	p.R10W(2)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677000													12	115					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87015654	87015654	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	uc002srt.3	-	5	1545	c.656_splice	c.e5+1	p.R219_splice	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Splice_Site_p.R219_splice|CD8A_uc010ytn.2_Splice_Site_p.R260_splice|CD8A_uc002sru.3_Splice_Site_p.R182_splice	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	219					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507000													5	21					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	uc004bdo.1	-	8	1315	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc004bdp.1_Missense_Mutation_p.G425R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	425					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.G425R(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398000													29	107					0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178853	17178853	+	RNA	SNP	C	C	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:17178853C>G	uc002zls.1	+	2		c.935C>G								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		AACTCAGCCTCGGACAGCCTG	0.567000													9	19					0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20242934	20242934	+	RNA	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:20242934G>A	uc010cqy.1	+	4		c.1023G>A								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.									p.V244I(1)		breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						ATTAAAACTCGTCATAAATGA	0.368000													17	75					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552380	56552380	+	Silent	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:56552380G>A	uc010sqd.2	+	0	235	c.195G>A	c.(193-195)caG>caA	p.Q65Q	MYL6_uc001sjw.2_Intron|MYL6_uc001sjx.2_Intron|MYL6_uc010sqe.2_Intron	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGGGTCAGAGTTTGTGGG	0.562000													31	142					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	106					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47692015	47692015	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	uc002xty.3	+	11	1427	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_uc010zyg.2_Silent_p.I214I|CSE1L_uc010ghx.3_Silent_p.I375I|CSE1L_uc010ghy.3_Silent_p.I80I|CSE1L_uc010zyh.2_Silent_p.I80I	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	431					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.I431I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403000													4	100					0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79207799	79207799	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	uc002jzu.2	-	4	415	c.357G>A	c.(355-357)aaG>aaA	p.K119K	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_5'UTR|C17orf56_uc002jzt.2_5'UTR|C17orf56_uc002jzv.2_5'UTR	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	119						integral to membrane		p.K119K(2)		endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGCGCGAACCTTCTGGTACA	0.662000													4	39					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746685	121746685	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:121746685C>T	uc010flp.3	+	12	3225	c.3195C>T	c.(3193-3195)gaC>gaT	p.D1065D	GLI2_uc002tmq.1_Silent_p.D737D|GLI2_uc002tmr.1_Silent_p.D720D|GLI2_uc002tmt.4_Silent_p.D737D|GLI2_uc002tmu.4_Silent_p.D720D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1065					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1065D(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCCAGACGACGTGGTGCAGT	0.687000													7	93					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72500856	72500856	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:72500856G>A	uc001jrg.3	+	11	1871	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R621H|ADAMTS14_uc001jri.1_Missense_Mutation_p.R144H	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	621	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R624H(3)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGCCAAGCGCAACTCCTAC	0.627000													9	74					0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	uc003joh.3	+	0	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	104					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.R104G(3)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617000													5	26					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	uc003glk.3	+	1	1193	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	234					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R234W(2)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637000													25	112					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790980	133790980	+	Silent	SNP	G	G	A	rs114264751	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr11:133790980G>A	uc001qgx.4	-	17	2871	c.2640C>T	c.(2638-2640)gcC>gcT	p.A880A		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	880						integral to membrane|plasma membrane		p.A336A(1)|p.A880A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCTCCTCGGCGAAGGGGA	0.657000													26	100					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749500	2749500	+	Silent	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:2749500G>A	uc003jda.3	-	1	893	c.651C>T	c.(649-651)gaC>gaT	p.D217D	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D217D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D217D(3)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTCACCTTCGTCCTCTGCCG	0.682000													5	61					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	uc003jfm.4	-	11	1803	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	491					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.N491S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532000													51	176					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12200105	12200105	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:12200105G>A	uc001ile.2	+	9	1122	c.975_splice	c.e9+1	p.A325_splice	SEC61A2_uc010qbq.1_Splice_Site_p.A303_splice|SEC61A2_uc001ilf.4_Splice_Site|SEC61A2_uc001ilh.4_Splice_Site|SEC61A2_uc001ilg.4_Splice_Site_p.A325_splice	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	325						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368000													10	45					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A	rs139541363	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:129026419G>A	uc002tpt.4	-	1	587	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(4)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000													5	79					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:114356239T>C	uc002tkh.3	+	5	775	c.717T>C	c.(715-717)cgT>cgC	p.R239R	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCTTTGCCCGTGTGTCAGACT	0.642000													3	8					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1198837	1198837	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:1198837G>T	uc002fsi.1	+	1	779	c.440G>T	c.(439-441)cGc>cTc	p.R147L		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	147					response to biotic stimulus	integral to membrane		p.R147H(2)|p.R147L(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTGGGCCGCCTGGCTCGG	0.622000													33	136					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	uc001qnb.4	-	3	2018	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	592					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S592G(2)|p.R591M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468000													21	92					0	0	1	0	0
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Missense_Mutation	SNP	C	C	T	rs143733594		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:177163583C>T	uc010jkp.1	-	12	851	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FAM153A_uc021yix.1_Intron|FAM153A_uc003mib.1_Non-coding_Transcript|FAM153A_uc003mic.3_Missense_Mutation_p.E144K	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Homo sapiens family with sequence similarity 153, member A (FAM153A), mRNA.	144								p.E144K(6)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458000													17	64					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205601	205601	+	Silent	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:205601G>A	uc003jam.1	-	2	694	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA.	198								p.P198P(2)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CAGCGGCGACGGGGTCGACGG	0.522000													16	82					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237011	132237011	+	Silent	SNP	G	G	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	uc002tsu.4	+	2	550	c.357G>C	c.(355-357)ctG>ctC	p.L119L		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	119					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L119L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498000													30	190					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112478967	112478967	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:112478967C>T	uc003kql.4	-	4	1248	c.832G>A	c.(832-834)Gtc>Atc	p.V278I	MCC_uc003kqj.4_Missense_Mutation_p.V88I|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.V88I|MCC_uc010jcd.1_Missense_Mutation_p.V50I	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	88					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.V88I(2)|p.V278I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGCAATGACGCTGTGGAGC	0.547000													10	34					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	uc003auq.3	+	7	940	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	PICK1_uc003aur.3_Missense_Mutation_p.H184Y|PICK1_uc003aus.3_Missense_Mutation_p.H184Y|PICK1_uc003aut.3_Missense_Mutation_p.H184Y	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	184	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	p.H184Y(2)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617000													17	106					0	0	1	0	0
EBLN2	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	A	A	rs147131789	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr3:73111481_73111482insA	uc003dpj.3	+	0	672_673	c.249_250insA	c.(247-252)aacagafs	p.N83fs	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA.	83							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.480													8	13	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:154173389_154173390insC	uc003lvo.3	+	5	691_692	c.667_668insC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													7	345	---	---	---	---					
TBC1D13	54662	broad.mit.edu	37	9	131553912	131553912	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	uc010myj.3	+	4	363	c.240delG	c.(238-240)cagfs	p.Q80fs	TBC1D13_uc010myk.3_Frame_Shift_Del_p.Q80fs|TBC1D13_uc010myl.3_Intron	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	80	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552													14	67	---	---	---	---					
TBX3	6926	broad.mit.edu	37	12	115114119	115114120	+	Splice_Site	DEL	TT	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	uc001tvt.1	-	6	2063	c.1099_splice	c.e6+1	p.D367_splice	TBX3_uc001tvu.1_Splice_Site_p.D347_splice	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	367					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545													14	91	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62214732	62214734	+	In_Frame_Del	DEL	ACA	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	uc002agz.3	-	53	6928_6930	c.6837_6839delTGT	c.(6835-6840)gttgta>gta	p.2279_2280VV>V	VPS13C_uc002aha.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_uc002ahb.2_In_Frame_Del_p.2279_2280VV>V|VPS13C_uc002ahc.2_In_Frame_Del_p.2236_2237VV>V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2279					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365													25	165	---	---	---	---					
