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
ITGA7	3679	broad.mit.edu	37	12	56088657	56088657	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:56088657G>A	ENST00000257880.7	-	16	2452	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P745S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S			Q13683	ITA7_HUMAN	integrin, alpha 7	745					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCAGCCTGGGGCTGGGCTGGG	0.622000													12	47					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:151933008G>A	ENST00000355193.2	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F					lysine (K)-specific methyltransferase 2C																		TGGAAATCCAGACCCACGGCC	0.453000													7	100					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													9	56					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65321737	65321737	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:65321737A>G	ENST00000284037.5	+	12	1341	c.952A>G	c.(952-954)Att>Gtt	p.I318V	ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	318					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GCCTTCATCTATTGGGCAGCT	0.299000													5	37					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													6	62					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294000													4	41					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622000													5	96					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155261654	155261654	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:155261654C>T	ENST00000392414.3	-	10	1531	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	PKLR_ENST00000342741.4_Missense_Mutation_p.R504H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	504					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGGACCTGGCGGGCAGCCTG	0.602000													21	100					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45710772	45710772	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr21:45710772C>T	ENST00000355347.4	+	1	83	c.83C>T	c.(82-84)cCg>cTg	p.P28L	AIRE_ENST00000329347.4_Missense_Mutation_p.P28L|AIRE_ENST00000291582.5_Intron			O43918	AIRE_HUMAN	autoimmune regulator	360	HSR.		L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization).		positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGATGGCCCCGGGGGGTGTC	0.602000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				12	136					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61404336	61404336	+	RNA	SNP	G	G	A	rs17626916	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:61404336G>A	ENST00000496593.1	+	0	940					NR_002775.2																						GCCATGACGCGCAAGGCCATC	0.587000													4	44					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular region	protein binding	p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													7	23					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31649627	31649627	+	Missense_Mutation	SNP	T	T	A	rs147720727	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr20:31649627T>A	ENST00000375494.3	+	5	581	c.581T>A	c.(580-582)cTt>cAt	p.L194H		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	194	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TTCAAGGTGCTTCCGGGACTG	0.627000													4	53					0	0	1	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1																						TTTTCTGATATTGACCATGAC	0.458000													4	60					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380805	147380805	+	Silent	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:147380805G>A	ENST00000240986.4	+	2	776	c.723G>A	c.(721-723)gaG>gaA	p.E241E	GJA8_ENST00000369235.1_Silent_p.E241E	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	241					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGCCTGTAGAGCAGCCCCTGG	0.552000													5	85					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018510	41018510	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:41018510G>A	ENST00000399564.4	-	27	3146	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTCTTTTTGTGAAACAAGCCA	0.353000													4	20					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011296	31011296	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr22:31011296G>T	ENST00000215838.3	+	5	1083	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S			P20062	TCO2_HUMAN	transcobalamin II	197					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACACAGCAGCCATGGCAGG	0.567000													7	92					0.00448238	0.0047103	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	84					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30081367	30081367	+	Missense_Mutation	SNP	G	G	T	rs2071390	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr16:30081367G>T	ENST00000569798.1	+	8	1193	c.1016G>T	c.(1015-1017)aGg>aTg	p.R339M	ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000338110.5_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	0			C -> Y (in GSD12).		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ATAGGCAGGAGGTGGGCAGGG	0.617000													5	63					0.000602214	0.000643746	1	1	0
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:79687107A>C	ENST00000331531.5	+	11	1011	c.891A>C	c.(889-891)tgA>tgC	p.*297C	SLC25A10_ENST00000350690.5_Nonstop_Mutation_p.*288C|SLC25A10_ENST00000571730.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000545862.1_Nonstop_Mutation_p.*245C|SLC25A10_ENST00000541223.1_Nonstop_Mutation_p.*443C	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607000													10	60					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	28					0.00909568	0.00939887	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150933593	150933593	+	Missense_Mutation	SNP	G	G	A	rs143478285	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:150933593G>A	ENST00000035307.2	+	3	2441	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	310						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCCTGTCTCCGAAGGTACCCT	0.562000													4	47					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865073	67865073	+	Missense_Mutation	SNP	G	G	A	rs8052287	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr16:67865073G>A	ENST00000445712.2	-	6	686	c.440C>T	c.(439-441)cCg>cTg	p.P147L	CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGTCATAGCGGGGAGAGCTT	0.562000													8	182					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	72957598	72957598	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr3:72957598A>G	ENST00000389617.4	+	2	517	c.356A>G	c.(355-357)aAt>aGt	p.N119S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	119					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GCCTGTGGCAATCGGCTGGAG	0.547000													4	58					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206351	116206351	+	Missense_Mutation	SNP	A	A	G	rs143196463	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr1:116206351A>G	ENST00000355485.2	+	4	545	c.274A>G	c.(274-276)Att>Gtt	p.I92V	VANGL1_ENST00000369510.3_Missense_Mutation_p.I90V|VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	92					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCAAGAGGACATTGCCAGGAT	0.562000													6	138					0	0	1	0	0
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													3	3	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													4	6	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1																						GCATAGGGTTTTCTCTAGTATG	0.421													7	84	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								7	224	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													8	399	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													12	296	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)gtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373													9	179	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													86	45	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	42	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885859	29885876	+	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	rs117283469	byFrequency	TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG	ENST00000310624.6	+	4	2263_2280	c.2230_2247delGCTAAGTCCCCAGAGAAG	c.(2230-2247)del	p.AKSPEK750del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	756	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC	0.550													39	211	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92928115	92928135	+	In_Frame_Del	DEL	GCTGCTGCTGCTGCCGCTGCC	GCTGCTGCTGCTGCCGCTGCC	-			TCGA-DJ-A3VD-01A-11D-A23M-08	TCGA-DJ-A3VD-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcc2e54c-d0fe-46a2-a111-36f75edb2582	baf4d540-a042-4ed0-a1ca-9b029816ffeb	g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC	ENST00000373079.3	-	1	432_452	c.169_189delGGCAGCGGCAGCAGCAGCAGC	c.(169-189)del	p.GSGSSSS57del	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						tgccgctgctgctgctgctgctgccgctgccgctgctgctg	0.597													24	34	---	---	---	---					
