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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PLEKHN1	84069	broad.mit.edu	37	1	907717	907717	+	Silent	SNP	C	T	T			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr1:907717C>T	uc001ace.3	+	8	1106	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	PLEKHN1_uc001acd.3_Silent_p.Y305Y|PLEKHN1_uc001acf.3_Silent_p.Y317Y	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	357	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGAGGACTACGGTCACTGGC	0.687000														47			3		0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24676436	24676436	+	Silent	SNP	T	C	C			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr14:24676436T>C	uc001wnh.3	+	2	759	c.555T>C	c.(553-555)tcT>tcC	p.S185S	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.S99S|TSSK4_uc001wnf.3_Silent_p.S105S|TSSK4_uc001wng.3_Silent_p.S175S	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	175	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGCCTTCTAACCAGCCTG	0.502000														134			8		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49866894	49866894	+	Silent	SNP	C	T	T	rs146306196	byFrequency	TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:49866894C>T	uc003cxs.1	-	13	1390	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAIP_uc010hla.1_Silent_p.Q329Q	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	428	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATACAGGCTGGATGAATT	0.577000														35			22		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45636405	45636405	+	Missense_Mutation	SNP	A	T	T			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:45636405A>T	uc003coq.3	+	0	83	c.34A>T	c.(34-36)Agt>Tgt	p.S12C		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	12					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGAGGCCAGTAAATTCAT	0.557000														30			11		0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37431233	37431233	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:37431233G>A	uc002hrt.3	-	9	1071	c.817C>T	c.(817-819)Cca>Tca	p.P273S	FBXL20_uc010cvu.3_Missense_Mutation_p.P241S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	273						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CTAAGCCGTGGGCAGTTCTGA	0.408000														49			20		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722542	7722542	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:7722542G>A	uc002giu.1	+	70	10845	c.10831G>A	c.(10831-10833)Gcc>Acc	p.A3611T	DNAH2_uc010cnm.1_Missense_Mutation_p.A549T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3611					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3611T(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGCCCATGCGCCCAGCGGGC	0.607000														102			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584499	82584499	+	Missense_Mutation	SNP	T	C	C			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:82584499T>C	uc003uhx.2	-	4	6059	c.5770A>G	c.(5770-5772)Aaa>Gaa	p.K1924E	PCLO_uc003uhv.2_Missense_Mutation_p.K1924E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1855					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTTTTATGCATCATT	0.358000														4			4		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923511	158923511	+	Missense_Mutation	SNP	G	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:158923511G>A	uc003qrf.3	+	12	4173	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	939					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGCAGCAGTGCCACC	0.672000														128			4		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					20			16		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114911638	114911638	+	Silent	SNP	C	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr10:114911638C>A	uc021pyi.1	+	9	1663	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	TCF7L2_uc001lah.3_Silent_p.R368R|TCF7L2_uc010qro.2_Silent_p.R363R|TCF7L2_uc001lae.4_Silent_p.R386R|TCF7L2_uc010qrm.2_Silent_p.R386R|TCF7L2_uc010qrn.2_Silent_p.R329R|TCF7L2_uc021pyg.1_Silent_p.R102R|TCF7L2_uc021pyh.1_Silent_p.R368R|TCF7L2_uc021pyj.1_Silent_p.R386R|TCF7L2_uc021pyk.1_Silent_p.R368R|TCF7L2_uc021pyl.1_Silent_p.R368R|TCF7L2_uc010qrp.2_Silent_p.R363R|TCF7L2_uc021pym.1_Silent_p.R359R|TCF7L2_uc021pyn.1_Silent_p.R391R|TCF7L2_uc021pyo.1_Silent_p.R391R|TCF7L2_uc021pyp.1_Silent_p.R382R|TCF7L2_uc010qrq.2_Silent_p.R359R|TCF7L2_uc001lac.4_Silent_p.R363R|TCF7L2_uc010qrk.2_Silent_p.R363R|TCF7L2_uc001lad.4_Silent_p.R359R|TCF7L2_uc001lag.4_Silent_p.R410R|TCF7L2_uc001laf.4_Silent_p.R363R|TCF7L2_uc010qrl.2_Silent_p.R363R|TCF7L2_uc010qrr.2_Silent_p.R301R|TCF7L2_uc010qrs.2_Silent_p.R257R|TCF7L2_uc010qrt.2_Silent_p.R257R|TCF7L2_uc010qru.2_Silent_p.R285R|TCF7L2_uc010qrv.2_Silent_p.R203R|TCF7L2_uc010qrw.2_Silent_p.R90R|TCF7L2_uc010qrx.2_Silent_p.R243R|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	386	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.L386L(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GATCCTTGGGCGGAGGGTAGG	0.547000			T	VTI1A	colorectal									58			3		1.23904e-05	1.44555e-05	1	1	0
ZMYND8	23613	broad.mit.edu	37	20	45891129	45891129	+	Silent	SNP	G	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr20:45891129G>A	uc010zxy.1	-	11	1627	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	ZMYND8_uc010ghq.1_Silent_p.S165S|ZMYND8_uc010ghr.1_Silent_p.S463S|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.S488S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.S240S|ZMYND8_uc002xsx.1_Silent_p.S240S|ZMYND8_uc002xsy.1_Silent_p.S463S|ZMYND8_uc002xsz.1_Silent_p.S425S|ZMYND8_uc002xta.1_Silent_p.S488S|ZMYND8_uc002xtb.1_Silent_p.S508S|ZMYND8_uc002xss.2_Silent_p.S488S|ZMYND8_uc010zxz.1_Silent_p.S483S|ZMYND8_uc002xtc.1_Silent_p.S508S|ZMYND8_uc002xtd.1_Silent_p.S483S|ZMYND8_uc002xte.1_Silent_p.S488S|ZMYND8_uc010zya.1_Silent_p.S488S|ZMYND8_uc002xtf.1_Silent_p.S508S|ZMYND8_uc002xtg.3_Silent_p.S482S|ZMYND8_uc010ghs.2_Silent_p.S482S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	488							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGGGCTGCCGGATAAACTCC	0.488000														51			4		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33139342	33139342	+	Missense_Mutation	SNP	C	T	T			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:33139342C>T	uc003ocx.1	-	42	3388	c.3160G>A	c.(3160-3162)Ggc>Agc	p.G1054S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G968S|COL11A2_uc003ocz.1_Missense_Mutation_p.G947S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1054	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATGGGGCCCTTCTCACCC	0.617000														14			7		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067105	49067105	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:49067105C>A	uc002itc.3	-	20	2955	c.2746G>T	c.(2746-2748)Gag>Tag	p.E916*	SPAG9_uc002itd.3_Nonsense_Mutation_p.E906*|SPAG9_uc002itb.3_Nonsense_Mutation_p.E902*|SPAG9_uc002itf.3_Nonsense_Mutation_p.E737*|SPAG9_uc002ita.3_Nonsense_Mutation_p.E759*|SPAG9_uc002ite.3_Nonsense_Mutation_p.E746*	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	916					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGACATGCTCTGTGTAGACG	0.478000														36			4		0.00909568	0.00909568	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180750	57180752	+	In_Frame_Del	DEL	AGG	-	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr4:57180750_57180752delAGG	uc003hbk.2	+	7	1473_1475	c.1082_1084delAGG	c.(1081-1086)caggag>cag	p.E365del	KIAA1211_uc010iha.2_In_Frame_Del_p.E358del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E275del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E251del	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	365	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ctcaaaaggcaggaggaggagga	0.704													---	4	---	---	2	---					
ABCA5	23461	broad.mit.edu	37	17	67257831	67257831	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:67257831delA	uc002jif.2	-	23	4592	c.3374delT	c.(3373-3375)ttcfs	p.F1125fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.F91fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.F348fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.F42fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.F1125fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1125					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTTAAAGGTGAAAGAAGCAAT	0.264													---	4	---	---	2	---					
BAHCC1	57597	broad.mit.edu	37	17	79409285	79409285	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:79409285delG	uc002kaf.2	+	3	724	c.724delG	c.(724-726)gggfs	p.G242fs	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	304							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CAGCTGTGCAGGGGGCATGCT	0.726													---	4	---	---	2	---					
