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
NKX2-1	7080	broad.mit.edu	37	14	36987112	36987112	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr14:36987112T>C	uc001wtu.3	-	2	673	c.577A>G	c.(577-579)Aag>Gag	p.K193E	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K163E|NKX2-1_uc001wtv.3_Missense_Mutation_p.K163E|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	163					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACCCGGCGCTTCCTGCGCGGC	0.701000			A		NSCLC								9	7					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821228	72821228	+	Silent	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:72821228T>C	uc002fck.3	-	9	11620	c.10947A>G	c.(10945-10947)tcA>tcG	p.S3649S	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.S2735S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3649					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGAACCCCTGAGGTGCTGC	0.602000													43	60					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	33976989	33976989	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:33976989A>T	uc011kap.2	+	3	682	c.308A>T	c.(307-309)gAa>gTa	p.E103V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	103	VWFC 1.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCTGTTGTGAACAGTGCAAA	0.488000													31	33					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018297	61018297	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:61018297T>A	uc010dpw.3	-	5	588	c.433A>T	c.(433-435)Aat>Tat	p.N145Y	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	145					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CCCAGGTAATTGATGCTCATT	0.542000													42	49					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404819	91404819	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:91404819T>C	uc001dnw.3	-	2	2375	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.M698V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATTGCACATGTTTACACCT	0.368000													59	58					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148684674	148684674	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr2:148684674T>C	uc002twg.3	+	11	1642	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T	ACVR2A_uc010zbn.2_Missense_Mutation_p.I350T|ACVR2A_uc002twh.3_Missense_Mutation_p.I458T	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	458	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.I458T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTGAAACCATTGAAGAATGT	0.378000													6	56					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892514	205892514	+	Silent	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:205892514G>A	uc001hdp.3	-	14	1722	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	SLC26A9_uc001hdo.3_Silent_p.S204S|SLC26A9_uc001hdq.3_Silent_p.S536S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	536	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGTAGAGAGGGGAGCAGTACG	0.507000													8	91					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45958119	45958119	+	Splice_Site	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:45958119A>G	uc001ncc.4	-	16	2230	c.1606_splice	c.e16-1	p.M536_splice	PHF21A_uc001ncb.4_Splice_Site_p.M490_splice|PHF21A_uc009ykx.3_Splice_Site_p.M490_splice|PHF21A_uc001nca.1_Splice_Site_p.M272_splice	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	536	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTTCAGCATCTGAAAAGA	0.388000													27	44					0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790171	19790171	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:19790171G>T	uc002nni.2	+	3	483	c.373G>T	c.(373-375)Gct>Tct	p.A125S	ZNF101_uc010ecg.2_Missense_Mutation_p.A5S|ZNF101_uc002nnj.2_Missense_Mutation_p.A5S	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGAGCTCATGCTGGACACAA	0.507000													26	35					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137991824	137991824	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:137991824G>A	uc003esa.1	+	17	1820	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.A468T|ARMC8_uc011bmg.1_Missense_Mutation_p.A432T|ARMC8_uc011bmh.1_Missense_Mutation_p.A426T|ARMC8_uc003esb.1_Missense_Mutation_p.A457T|ARMC8_uc003esc.1_Missense_Mutation_p.A257T|ARMC8_uc003esf.1_Missense_Mutation_p.A68T	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	499							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGCATTTCAGGCTGAACAAAA	0.289000													7	14					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127909	150127909	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:150127909A>G	uc003exv.3	+	0	1122	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.M258V	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	258							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGGAGAAAATGAGCCAGCC	0.667000													17	27					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	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				37	48					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2697862	2697862	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:2697862A>G	uc002klm.4	+	9	1354	c.1165A>G	c.(1165-1167)Att>Gtt	p.I389V	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	389					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTACCTAAGATTGTCAACCT	0.328000													5	57					0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30388975	30388975	+	Splice_Site	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:30388975C>T	uc002dxv.1	+	6	413	c.357_splice	c.e6-1	p.F119_splice	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	119	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CTCTCTCCAGCCTGGAGGAGC	0.662000													3	6					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:174238797G>A	uc003isz.4	+	9	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	GALNT7_uc011ckb.2_Missense_Mutation_p.E318K	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	541	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E541K(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393000													6	87					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761604	55761604	+	Silent	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:55761604C>T	uc010riv.2	-	0	498	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CACAGAATGACAAGCTGCTGA	0.473000													7	55					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898789	39898789	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:39898789C>G	uc002olh.1	+	1	489	c.431C>G	c.(430-432)aCg>aGg	p.T144R		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	144					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAATACAAGACGGAACTCTGT	0.647000													42	70					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193581	128193581	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr10:128193581G>A	uc010qum.2	-	3	509	c.479C>T	c.(478-480)tCa>tTa	p.S160L	C10orf90_uc001ljp.3_Missense_Mutation_p.S16L|C10orf90_uc001ljq.3_Missense_Mutation_p.S63L|C10orf90_uc009yao.2_Missense_Mutation_p.S160L|C10orf90_uc001ljs.1_Missense_Mutation_p.S16L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	63										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTTTTCTCTTGACTTATTCTC	0.463000													29	43					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr22:26747060G>A	uc003acb.3	+	11	2646	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.R817H|SEZ6L_uc003ace.3_Missense_Mutation_p.R817H|SEZ6L_uc011akc.2_Missense_Mutation_p.R817H|SEZ6L_uc003acc.3_Missense_Mutation_p.R817H|SEZ6L_uc003acf.1_Missense_Mutation_p.R590H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R590H|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	817	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.R817C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547000													28	46					0	0	1	0	0