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
HEATR6	63897	broad.mit.edu	37	17	58143675	58143675	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:58143675T>A	ENST00000184956.6	-	9	1327	c.1311A>T	c.(1309-1311)aaA>aaT	p.K437N	HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	437							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CATAAAGAACTTTTTTTTCTA	0.383000													16	40					0	0	0.024245	0	0
TTC40	54777	broad.mit.edu	37	10	134671183	134671183	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr10:134671183T>C	ENST00000368586.5	-	39	5585	c.5485A>G	c.(5485-5487)Atc>Gtc	p.I1829V	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	494										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGCCCTGGATGCTGTGAAGC	0.552000													3	26					0	0	0.004672	0	0
SHQ1	55164	broad.mit.edu	37	3	72897455	72897455	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:72897455C>G	ENST00000325599.8	-	1	176	c.37G>C	c.(37-39)Gac>Cac	p.D13H		NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	13	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTCAGGAAGTCCGGATCCTGG	0.657000													3	120					0	0	0.004672	0	0
SBF2	81846	broad.mit.edu	37	11	9812167	9812167	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:9812167A>C	ENST00000256190.8	-	34	4771	c.4634T>G	c.(4633-4635)aTt>aGt	p.I1545S	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1545	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATTCTGTCAATACATTCCCA	0.294000													3	155					0	0	0.004672	0	0
OR51F1	256892	broad.mit.edu	37	11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:4790251T>A	ENST00000380383.1	-	1	917	c.918A>T	c.(916-918)aaA>aaT	p.K306N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	299						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438000													37	50					0	0	0.098360	0	0
DICER1	23405	broad.mit.edu	37	14	95557639	95557639	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95557639C>G	ENST00000526495.1	-	27	5719	c.5428G>C	c.(5428-5430)Gat>Cat	p.D1810H	DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H|DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAAATATCCCCCATGGCC	0.458000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				92	167					0	0	0.048971	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906194	164906194	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:164906194G>A	ENST00000475390.1	-	2	2868	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	809						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCAAGGTCCGGTAGTTACTA	0.557000										HNSCC(40;0.11)			4	117					0	0	0.009096	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879301	39879301	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:39879301G>C	ENST00000530275.1	+	1	3151	c.2956G>C	c.(2956-2958)Gct>Cct	p.A986P	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	986	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCCCAGCTGCTGCAGTGCC	0.716000													2	16					0	0	0.014758	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													4	64					0	0	0.009096	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													4	59					0	0	0.009096	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135767911	135767911	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chrX:135767911C>A	ENST00000250617.6	-	12	2522	c.1317G>T	c.(1315-1317)tgG>tgT	p.W439C	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	439					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTTCCCATGCCTGAA	0.393000													13	121					2.27111e-07	5.29926e-07	0.093190	1	0
CCDC24	149473	broad.mit.edu	37	1	44457888	44457888	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:44457888C>T	ENST00000372318.3	+	3	302	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	44										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCAGGTGGCGATGTTACGG	0.642000													12	120					0	0	0.020292	0	0
DNAH1	25981	broad.mit.edu	37	3	52433173	52433173	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:52433173C>A	ENST00000420323.2	+	76	12658	c.12397C>A	c.(12397-12399)Cgc>Agc	p.R4133S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4198					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4197S(1)|p.R4133S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATTTTGCCCGCAAATTTGT	0.537000													5	444					0.00198382	0.0042264	0.029380	1	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	96					0	0	0.014758	0	0
BRAF	673	broad.mit.edu	37	7	140481431	140481431	+	Silent	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:140481431C>G	ENST00000288602.6	-	11	1437	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	459	Protein kinase.				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		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)	TTCTTTGTCCCACTGTAATCT	0.403000		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				3	122					0	0	0.014758	0	0
STAC2	342667	broad.mit.edu	37	17	37371255	37371255	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:37371255C>T	ENST00000333461.5	-	6	1090	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	241					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCCCATCCTCGGTCAGCTCA	0.632000													87	154					0	0	0.048971	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	46					0	0	0.004672	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	28					0	0	0.021553	0	0
CSMD2	114784	broad.mit.edu	37	1	34011735	34011735	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:34011735A>G	ENST00000373381.4	-	57	9178	c.9002T>C	c.(9001-9003)aTg>aCg	p.M3001T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2974	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGAAGCGCATCACAGTGCC	0.617000													34	24					0	0	0.045705	0	0
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													3	5	---	---	---	---					
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)ggfs	p.W763fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642													2	4	---	---	---	---					
DYNC2H1	79659	broad.mit.edu	37	11	103029464	103029464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:103029464delG	ENST00000375735.2	+	27	4330	c.4186delG	c.(4186-4188)gafs	p.G1396fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1396	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACTCATGCTGGAATAAGAAA	0.269													2	4	---	---	---	---					
DICER1	23405	broad.mit.edu	37	14	95590777	95590781	+	Frame_Shift_Del	DEL	TTACT	TTACT	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95590777_95590781delTTACT	ENST00000526495.1	-	10	1419_1423	c.1128_1132delAGTAA	c.(1126-1134)aatcfs	p.KVI376fs	DICER1_ENST00000541352.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.KVI376fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	376	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAGTTTGATTACTTTAGGAGTTA	0.351			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				43	118	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)ttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													5	10	---	---	---	---					
