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
SELENBP1	8991	broad.mit.edu	37	1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:151337077G>A	ENST00000426705.2	-	12	1631	c.1487C>T	c.(1486-1488)gCc>gTc	p.A496V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	454					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAAGGGCTGGGCCAAG	0.567													4	80	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAAGGAGGACCACCTGCAG	0.642													6	27	---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	288					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGAAGGCCTGACAAATTAA	0.433													7	26	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:37818970A>G	ENST00000264741.5	+	24	2885	c.2629A>G	c.(2629-2631)Ata>Gta	p.I877V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	877					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTCCACACAATATTTGCTTT	0.428													10	25	---	---	---	---
CP	1356	broad.mit.edu	37	3	148903046	148903046	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:148903046C>T	ENST00000264613.6	-	12	2527	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	755	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAATGATGCAGCTCCTTTT	0.428													4	152	---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:54558526C>T	ENST00000251636.5	-	24	3908	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1254							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTACTTGTGCTTTGCCTTGG	0.433													8	99	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1												p.A561S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGCT	0.716													4	79	---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:27783060G>C	ENST00000359465.4	+	1	239	c.239G>C	c.(238-240)cGc>cCc	p.R80P		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCGTCACGCCTGGCGCAT	0.592													16	65	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428													16	58	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44575523	44575523	+	Silent	SNP	C	C	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr7:44575523C>A	ENST00000289547.4	-	5	1954	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	633	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAAGATGGGCAGGTCTTCAG	0.592													3	28	---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:104414440G>A	ENST00000302424.7	+	2	723	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGACCGGCTGGAGGAGCGAGA	0.592													17	114	---	---	---	---
LUZP2	338645	broad.mit.edu	37	11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:25071608A>C	ENST00000533227.1	+	10	819	c.532A>C	c.(532-534)Aat>Cat	p.N178H	LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	264	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTGGAAACAATGAGAGCTC	0.353													4	45	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)			3	30	---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7970733	7970733	+	Silent	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:7970733A>G	ENST00000397983.3	+	2	225	c.165A>G	c.(163-165)caA>caG	p.Q55Q	MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000545011.1_Intron|MAP2K7_ENST00000397981.3_Intron			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	41					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCCCGTCCCAACGAGCAGGTA	0.532													27	107	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:45494556A>G	ENST00000541297.2	+	12	1903	c.1438A>G	c.(1438-1440)Agt>Ggt	p.S480G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	494					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCGTCTACAGTCTTCTGTA	0.637													25	118	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3673297	3673297	+	Silent	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:3673297G>A	ENST00000344754.4	-	15	3900	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	SIGLEC1_ENST00000202578.4_Silent_p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1301	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTCCTGCAGCCAACGACCG	0.657													3	12	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:13894588G>A	ENST00000284951.5	-	5	463	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	130						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGTAGGTAGGCTCTGTTTCA	0.353													3	31	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150840968	150840968	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:150840968A>G	ENST00000370357.4	+	14	1996	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	584						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGTGCAGATATGCCTG	0.532													12	17	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr18:19751408delC	ENST00000269216.3	+	2	580	c.303delC	c.(301-303)ggcfs	p.G101fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	101					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGGTCGCGGGCCCCGGGGGCA	0.726													2	4	---	---	---	---
