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
ASMTL	8623	broad.mit.edu	37	X	1540713	1540713	+	Silent	SNP	C	C	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:1540713C>T	ENST00000534940.1	-	9	1134	c.909G>A	c.(907-909)gcG>gcA	p.A303A	ASMTL_ENST00000416733.2_Silent_p.A285A|ASMTL_ENST00000381333.4_Silent_p.A345A|ASMTL_ENST00000381317.3_Silent_p.A361A	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	361	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTAGACGTTCGCTGTCTCTG	0.488000													17	192					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122830671	122830671	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:122830671G>C	ENST00000245838.8	-	6	398	c.367C>G	c.(367-369)Cta>Gta	p.L123V	THOC2_ENST00000355725.4_Missense_Mutation_p.L123V|THOC2_ENST00000491737.1_Missense_Mutation_p.L8V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	123					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CGTTCCTTTAGAACTGTGTCT	0.318000													38	48					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195430	18195430	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:18195430G>A	ENST00000314254.3	+	1	1047	c.627G>A	c.(625-627)atG>atA	p.M209I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCGGAAGATGCCGCTGACCA	0.562000													7	67					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804272	157804272	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr1:157804272G>T	ENST00000368174.4	-	4	739	c.643C>A	c.(643-645)Ctt>Att	p.L215I		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	215	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAATCCTGAAGGGTTGCTTCT	0.532000													3	42					1	1	1	1	0
RP1	6101	broad.mit.edu	37	8	55538950	55538950	+	Silent	SNP	G	G	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr8:55538950G>T	ENST00000220676.1	+	4	2656	c.2508G>T	c.(2506-2508)ccG>ccT	p.P836P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	836					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTATGCACCGCAATCTCAAG	0.328000													20	35					6.33239e-15	6.80145e-15	1	1	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53472683	53472683	+	RNA	SNP	C	C	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr19:53472683C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTGTCACACTCATCACACTTG	0.423000													17	19					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29474117	29474117	+	Silent	SNP	G	G	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr2:29474117G>A	ENST00000389048.3	-	12	2964	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	686					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCCACATGTGGTGAACAGCC	0.652000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	22					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55497812	55497812	+	Missense_Mutation	SNP	G	G	A	rs144946000	byFrequency	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:55497812G>A	ENST00000396307.2	-	6	810	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RAB27A_ENST00000336787.1_Missense_Mutation_p.R187W|RAB27A_ENST00000569493.1_Missense_Mutation_p.R187W|RAB27A_ENST00000564609.1_Missense_Mutation_p.R187W	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	187					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCACACACCGTTCCATTCGC	0.473000													12	118					0	0	1	0	0
POLR2J4	0	broad.mit.edu	37	7	44054352	44054352	+	RNA	SNP	T	T	C	rs56000326	by1000genomes	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr7:44054352T>C	ENST00000427076.1	-	0	209					NR_003655.2																						AGCCAGCAAATAGCACTTGCG	0.577000													6	160					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428731	428731	+	Silent	SNP	G	G	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:428731G>A	ENST00000332826.6	-	12	1095	c.1011C>T	c.(1009-1011)acC>acT	p.T337T		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	337						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGAGCAGGGTCAGGACGA	0.657000													3	34					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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				34	35					0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44463079	44463079	+	Silent	SNP	C	C	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr20:44463079C>A	ENST00000372542.1	+	1	546	c.234C>A	c.(232-234)ctC>ctA	p.L78L	SNX21_ENST00000462307.1_Silent_p.L87L|SNX21_ENST00000491381.1_Silent_p.L87L|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.L87L|SNX21_ENST00000372541.1_Silent_p.L78L			Q969T3	SNX21_HUMAN	sorting nexin family member 21	87					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCCCCTCGGGGATGGGA	0.692000													3	22					1	1	1	1	0
TBCCD1	55171	broad.mit.edu	37	3	186268971	186268971	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr3:186268971G>C	ENST00000424280.1	-	7	2121	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	TBCCD1_ENST00000446782.1_Missense_Mutation_p.P452A|TBCCD1_ENST00000338733.5_Missense_Mutation_p.P548A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	548					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCTGCTGCAGGGGGTACAAGG	0.443000													33	44					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6508	6508	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrM:6508T>C	ENST00000361624.2	+	1	605	c.605T>C	c.(604-606)cTa>cCa	p.202_202insP						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCTCCCAGTCCTAGCTGCTGG	0.502000													3	1					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs139785185		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr3:65425588C>T	ENST00000330909.8	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	87					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657000													33	63					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													4	2	---	---	---	---					
UHRF2	115426	broad.mit.edu	37	9	6460581	6460583	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr9:6460581_6460583delAAA	ENST00000276893.5	+	4	821_823	c.653_655delAAA	c.(652-657)ggc>g	p.ES218del		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	218	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGATACCCAGAAAGCGGTACTCT	0.355													7	83	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49611420	49611420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr19:49611420delA	ENST00000221448.5	+	10	1203	c.1007delA	c.(1006-1008)gafs	p.E336fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.E345fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	345					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTCCAGAGGAAAAgggccgg	0.746													2	4	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													8	6	---	---	---	---