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
TPRX1	284355	broad.mit.edu	37	19	48305251	48305251	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:48305251A>G	ENST00000535759.1	-	4	1307	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	TPRX1_ENST00000543508.1_Silent_p.D329D|TPRX1_ENST00000322175.3_Silent_p.D339D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	339						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		AGTCGGAGGCATCGGGGCTCT	0.622000													25	11					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	43					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707058	96707058	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr14:96707058C>T	ENST00000542454.2	+	3	3400	c.312C>T	c.(310-312)cgC>cgT	p.R104R	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R|BDKRB2_ENST00000306005.3_Silent_p.R131R			P30411	BKRB2_HUMAN	bradykinin receptor B2	131					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGCTCTGCCGCGTGGTGAATG	0.582000													72	121					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527000													4	75					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9083061	9083061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:9083061G>A	ENST00000433083.2	+	6	653	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	PHC1_ENST00000544916.1_Missense_Mutation_p.A215T|PHC1_ENST00000543824.1_Missense_Mutation_p.A215T|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	215					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAATCAACAGGCCTCAGCTCA	0.507000													4	11					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872363	28872363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:28872363G>T	ENST00000377199.3	-	8	1382	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	342	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCTGTTGGAGGTAACTGTACC	0.552000			T	RET	papillary thyroid								15	20					2.23348e-06	2.23348e-06	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:66433766C>T	ENST00000383703.3	-	16	2665	c.2062G>A	c.(2062-2064)Gcc>Acc	p.A688T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A711T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	711	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597000													27	45					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170003625	170003625	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:170003625A>C	ENST00000367765.1	-	7	2011	c.510T>G	c.(508-510)ttT>ttG	p.F170L	KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.F210L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	210					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGTCCATGAAATTGAGAAA	0.299000													12	25					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063212	48063212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:48063212C>T	ENST00000316364.5	+	19	2891	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	818					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P756S(1)|p.P818S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCTCATTCCCCATTAAGTCA	0.488000													22	68					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076551	93076551	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr5:93076551A>G	ENST00000510627.4	-	1	792	c.719T>C	c.(718-720)aTc>aCc	p.I240T	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AATGTGGCTGATTTGCTGGGG	0.552000													10	22					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49935464	49935464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:49935464G>A	ENST00000257981.6	+	3	622	c.362G>A	c.(361-363)gGg>gAg	p.G121E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	121	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AATGAGAAAGGGGAGGTGGCT	0.542000													61	129					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584709	138584709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:138584709G>A	ENST00000251691.4	+	12	2255	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	697	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGAGGTGGACACCGCTCT	0.507000													23	26					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma								23	11					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								15	30					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44150878	44150878	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:44150878T>G	ENST00000263795.6	+	11	1489	c.1419T>G	c.(1417-1419)caT>caG	p.H473Q	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	473										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GGGATACTCATATTTATGATG	0.383000													11	73					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851533	61851533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:61851533G>A	ENST00000577390.1	-	7	2081	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CDH8_ENST00000577730.1_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V|CDH8_ENST00000299345.6_Missense_Mutation_p.A376V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTGACTGTCGCCGTGTCTTT	0.483000													12	29					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804412	45804412	+	Silent	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:45804412G>A	ENST00000358525.4	-	9	1571	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000353278.4_Silent_p.L449L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	486					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CACCTCCTCAGCCCGTACACG	0.552000													22	81					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607000													8	10					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617000			T	CBFB	AML								4	51					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962268	151962268	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr7:151962268A>G	ENST00000355193.2	-	8	1257	c.1039T>C	c.(1039-1041)Tgc>Cgc	p.C347R	KMT2C_ENST00000262189.6_Missense_Mutation_p.C347R					lysine (K)-specific methyltransferase 2C									p.C347G(1)									GGGCTGTCGCACACTGCACAG	0.373000													7	178					0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67287397	67287397	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:67287397C>T	ENST00000294288.4	-	6	573	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CABP2_ENST00000353903.5_Silent_p.G111G	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	168	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TGCGGCCGTCCCCATTGGTGT	0.687000													6	9					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547000													3	30					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462																											ACAACTGGGCCAAGGGACGCT	0.577000													3	3					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	RNA	SNP	G	G	C	rs945905	by1000genomes	TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161																											AGTAGGAGAAGAGAGAGGAAG	0.567000													3	11					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108807	56108807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:56108807G>A	ENST00000394555.2	-	5	1015	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	194	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGATCCCCGTAAATTGATG	0.512000													32	52					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	57					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228529181	228529181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:228529181G>A	ENST00000570156.2	+	85	20845	c.20771G>A	c.(20770-20772)cGc>cAc	p.R6924H	OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGATGACCGCGCCTTCGAG	0.632000													9	9					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185987381	185987381	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:185987381A>G	ENST00000271588.4	+	34	5596	c.5367A>G	c.(5365-5367)aaA>aaG	p.K1789K	HMCN1_ENST00000367492.2_Silent_p.K1789K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1789	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACGCAAACTGGTTATTG	0.418000													45	98					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25655840	25655840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:25655840G>A	ENST00000406818.3	-	14	1621	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	458						cytoplasm	calcium ion binding|zinc ion binding	p.R458C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCAGGCGGAGACGCTGA	0.597000													8	6					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739244	30739244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr10:30739244G>A	ENST00000263056.1	+	5	1258	c.562G>A	c.(562-564)Gag>Aag	p.E188K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	188	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTTCCGGCACGAGAACATCGC	0.483000													28	81					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049595	11049595	+	RNA	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr21:11049595A>G	ENST00000470054.1	-	0	513									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGCTGTCGCACACTGCACAG	0.378000													15	205					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCTCAGCGTTGAGAACAT	0.438000													12	34					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78428460	78428464	+	Frame_Shift_Del	DEL	TCTTT	TCTTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:78428460_78428464delTCTTT	ENST00000370767.1	-	14	1422_1426	c.1335_1339delAAAGA	c.(1333-1341)gaaaagattfs	p.EKI445fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	445					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTCACACCAATCTTTTCTTCTATGA	0.332			"""F, N"""		oligodendroglioma								24	20	---	---	---	---					
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													7	265	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.350		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			43	92	---	---	---	---					
PPEF2	5470	broad.mit.edu	37	4	76809380	76809382	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:76809380_76809382delCTC	ENST00000286719.7	-	6	873_875	c.517_519delGAG	c.(517-519)gagdel	p.E173del		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	173	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACACTGTGATCTCCTCACTGTAA	0.507													15	108	---	---	---	---					
MPDZ	8777	broad.mit.edu	37	9	13216804	13216804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:13216804delC	ENST00000319217.7	-	10	1506	c.1259delG	c.(1258-1260)ggafs	p.G420fs	MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	420	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGGATTCTTCCATCATGCTC	0.313													14	23	---	---	---	---					
DNAI1	27019	broad.mit.edu	37	9	34514457	34514458	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:34514457_34514458delTG	ENST00000242317.4	+	17	1806_1807	c.1635_1636delTG	c.(1633-1638)actgtgfs	p.V546fs		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	546					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGTGGACACTGTGTCCTGGAA	0.559									Kartagener syndrome				43	80	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	15	---	---	---	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	136	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6970648	6970650	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:6970648_6970650delGAG	ENST00000229268.8	+	13	1592_1594	c.1540_1542delGAG	c.(1540-1542)gagdel	p.E515del	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_In_Frame_Del_p.E515del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	515					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAAGCCGAAGAGGAGAAGATGG	0.596													23	62	---	---	---	---					
DERA	51071	broad.mit.edu	37	12	16185574	16185574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:16185574delA	ENST00000428559.2	+	7	948	c.736delA	c.(736-738)aaafs	p.K246fs	DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	246					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TTTCTTCTGGAAAACTGGAAA	0.348													2	4	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57110851	57110853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:57110851_57110853delGAA	ENST00000454682.1	-	3	4742_4744	c.4461_4463delTTC	c.(4459-4464)tcttcc>tcc	p.1487_1488SS>S	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGAGAGGAAGAAGTGGCAA	0.631			T	BCL6	NHL								13	35	---	---	---	---					
LCP1	3936	broad.mit.edu	37	13	46721233	46721235	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr13:46721233_46721235delCTT	ENST00000398576.2	-	13	1370_1372	c.982_984delAAG	c.(982-984)aagdel	p.K328del	LCP1_ENST00000323076.2_In_Frame_Del_p.K328del			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	328	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGTCATCCTTCTCCTGCAAT	0.522			T	BCL6	NHL								12	19	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67265220	67265222	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:67265220_67265222delCTT	ENST00000258201.4	-	17	2783_2785	c.2536_2538delAAG	c.(2536-2538)aagdel	p.K846del		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	846	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGACACCTTCTCCAGGTAG	0.586													19	28	---	---	---	---					
