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
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572000													3	62					0	0	0.009096	0	0
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493000													5	64					0	0	0.000602	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353000													3	70					0	0	0.004672	0	0
NR4A2	0	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428000													23	26					0	0	0.004656	0	0
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	ENST00000469640.2	+	20	2410	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				63	86					0	0	0.014410	0	0
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433000													63	48					1.08241e-25	8.48834e-25	0.014410	1	0
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463000													12	16					0	0	0.013537	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			59	81					0	0	0.014410	0	0
IGHG3	0	broad.mit.edu	37	14	106235608	106235608	+	RNA	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:106235608G>A	ENST00000390551.2	-	0	1098																											GCTCTTCTGCGTGAAGCGGTT	0.622000													29	80					0	0	0.007291	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	246					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602000													26	38					0	0	0.008361	0	0
ANO2	57101	broad.mit.edu	37	12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	ENST00000327087.8	-	8	961	c.890C>G	c.(889-891)tCt>tGt	p.S297C	ANO2_ENST00000546188.1_Missense_Mutation_p.S298C|ANO2_ENST00000356134.5_Missense_Mutation_p.S298C			Q9NQ90	ANO2_HUMAN	anoctamin 2	302						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403000													4	3					0	0	0.001168	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000													23	86					0	0	0.002780	0	0
TBC1D2	55357	broad.mit.edu	37	9	100973003	100973003	+	Silent	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	ENST00000375066.5	-	8	1699	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_ENST00000375064.1_Silent_p.V536V|TBC1D2_ENST00000342112.5_Silent_p.V318V|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.V76V	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	536						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637000													4	3					0	0	0.009096	0	0
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582000													8	85					0	0	0.010729	0	0
LILRB4	0	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647000													4	68					0	0	0.009096	0	0
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572000													3	62					0	0	0.009096	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	59					0	0	0.000602	0	0
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493000													5	64					0	0	0.000602	0	0
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353000													3	70					0	0	0.004672	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	79					0	0	0.000602	0	0
NR4A2	0	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428000													23	26					0	0	0.004656	0	0
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr10:43318566G>A	ENST00000374518.4	+	20	3196	c.3132_splice	c.e20-1	p.G1045_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388000													4	86					0	0	0.000602	0	0
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr9:90296352C>T	ENST00000469640.2	+	20	2410	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				63	86					0	0	0.014410	0	0
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACAAATCTGCTCACCCA	0.433000													63	48					1.08241e-25	8.85605e-25	0.014410	1	0
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463000													12	16					0	0	0.013537	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			59	81					0	0	0.014410	0	0
IGHG3	0	broad.mit.edu	37	14	106235608	106235608	+	RNA	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr14:106235608G>A	ENST00000390551.2	-	0	1098																											GCTCTTCTGCGTGAAGCGGTT	0.622000													29	80					0	0	0.007291	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	246					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGGATCCAGGAGGAGCGGGAG	0.602000													26	38					0	0	0.008361	0	0
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498000													23	86					0	0	0.002780	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													3	32					0	0	0.004672	0	0
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582000													8	85					0	0	0.010729	0	0
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gtfs	p.A1004fs	ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.A1004V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577													38	30	---	---	---	---					
RP11-1252I4.2	0	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													3	3	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													2	4	---	---	---	---					
TTLL11	158135	broad.mit.edu	37	9	124855330	124855331	+	In_Frame_Ins	INS	-	-	TGGCCT	rs3833704		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:124855330_124855331insTGGCCT	ENST00000321582.5	-	1	554_555	c.367_368insAGGCCA	c.(367-369)agc>AGGCCAagc	p.122_123insRP	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	122					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						cgtctccgctgtggcctcggcc	0.762													3	5	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gtfs	p.A1004fs	ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.A1004V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGGAATACCAGCAGCCTCCCT	0.577													38	30	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr7:100369721delT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532													3	5	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													7	8	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	54f9a768-3d42-42b9-a0a6-be2e01e497d6	g.chr19:50155916_50155918delCCT	ENST00000360565.3	+	7	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcc>g	p.AS757del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	757	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.690													2	4	---	---	---	---					
