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
BTD	686	broad.mit.edu	37	3	15677045	15677045	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:15677045C>G	ENST00000383778.4	+	2	457	c.99C>G	c.(97-99)caC>caG	p.H33Q	BTD_ENST00000449107.1_Missense_Mutation_p.H55Q|BTD_ENST00000303498.5_Missense_Mutation_p.H53Q|BTD_ENST00000437172.1_Missense_Mutation_p.H55Q|BTD_ENST00000482824.1_3'UTR			P43251	BTD_HUMAN	biotinidase	53					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTGACCATCACGAGGCTGAAT	0.562000													4	258					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21139359	21139359	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:21139359G>C	ENST00000377122.4	-	11	1477	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	361					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGAAGCTTGATATGATGGT	0.313000													81	148					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													4	266					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													5	348					0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154514	14154514	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:14154514T>G	ENST00000295767.5	-	4	665	c.341A>C	c.(340-342)tAc>tCc	p.Y114S	CHCHD4_ENST00000396914.3_Missense_Mutation_p.Y101S	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	101	Asp/Glu-rich (acidic).				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGTCTGGGTATTTCTGCAT	0.507000													37	56					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205068185	205068185	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:205068185A>G	ENST00000264515.6	-	10	1169	c.1028T>C	c.(1027-1029)gTa>gCa	p.V343A	RBBP5_ENST00000367164.1_Missense_Mutation_p.V343A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	343					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGTATTCTACATTTTCATC	0.353000													57	78					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41523588	41523588	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:41523588G>A	ENST00000263253.7	+	4	2223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	335					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGAGAAGCGCAAGCTCATC	0.602000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	267					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182358103	182358103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:182358103T>C	ENST00000397033.2	+	11	1635	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	402					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.I402S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTATTTATATTTACAATGGC	0.348000													71	96					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602360	10602360	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:10602360G>A	ENST00000171111.5	-	3	1765	c.1218C>T	c.(1216-1218)tgC>tgT	p.C406C	KEAP1_ENST00000393623.2_Silent_p.C406C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCATGGGGGCGCAGGGCGACC	0.652000													12	18					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054019	160054019	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:160054019G>C	ENST00000368088.3	+	2	441	c.199G>C	c.(199-201)Gcc>Ccc	p.A67P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	67					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCCTGGCCTACGCGCT	0.667000													4	38					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79240069	79240069	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:79240069G>A	ENST00000264895.6	+	18	2506	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FRAS1_ENST00000325942.6_Missense_Mutation_p.G689D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G689D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	689					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGACGTGGGCATCCCCTCT	0.532000													4	167					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	961					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602000													3	7					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25646328	25646328	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646328G>C	ENST00000435706.2	-	33	4598	c.4397C>G	c.(4396-4398)tCt>tGt	p.S1466C	TOP2B_ENST00000264331.4_Missense_Mutation_p.S1471C|TOP2B_ENST00000540199.1_Missense_Mutation_p.S323C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S323C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1471					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACAGAAGCAGAATCTTCTTC	0.323000													39	143					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110479714	110479714	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:110479714G>C	ENST00000260283.4	-	9	1053	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L231V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L234V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L231V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	257	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTACCAATGAGTGGGTATGGA	0.358000													13	381					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072290	75072290	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:75072290T>C	ENST00000326665.5	-	10	1702	c.1484A>G	c.(1483-1485)aAa>aGa	p.K495R	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K298R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	495	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTACCATATTTTAAAGTATT	0.353000													97	126					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039223	5039223	+	Splice_Site	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:5039223G>A	ENST00000574788.1	+	17	2894	c.664_splice	c.e17+1	p.G222_splice	USP6_ENST00000332776.4_Splice_Site_p.G222_splice|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G222_splice			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	222	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCTGCCAGGTAGGTGAAC	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								17	65					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7728538	7728538	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:7728538C>A	ENST00000507866.2	+	21	2886	c.2777C>A	c.(2776-2778)aCg>aAg	p.T926K	SORCS2_ENST00000329016.9_Missense_Mutation_p.T754K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	926						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTGACAACGCGGTTTTCG	0.657000													4	280					1	1	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141291650	141291650	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:141291650C>A	ENST00000389484.3	-	47	8673	c.7702G>T	c.(7702-7704)Ggc>Tgc	p.G2568C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2568	LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATAACTTGCCATGAGGAATG	0.383000										TSP Lung(27;0.18)			74	96					8.09925e-49	9.09608e-49	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25646358	25646358	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646358G>C	ENST00000435706.2	-	33	4568	c.4367C>G	c.(4366-4368)tCa>tGa	p.S1456*	TOP2B_ENST00000264331.4_Nonsense_Mutation_p.S1461*|TOP2B_ENST00000540199.1_Nonsense_Mutation_p.S313*|TOP2B_ENST00000542520.1_Nonsense_Mutation_p.S313*			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1461					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAATTTAGCTGAATCTAAAAA	0.338000													22	112					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													4	73					0.00909568	0.0093519	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	68					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39271708	39271708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:39271708T>A	ENST00000399820.3	+	31	3625	c.3471T>A	c.(3469-3471)taT>taA	p.Y1157*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.Y997*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1157					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCACAGCTATATACTAGTAA	0.473000													24	100					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839297	100839297	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839297A>G	ENST00000223114.4	-	7	1122	c.956T>C	c.(955-957)cTg>cCg	p.L319P	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.P251P	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	319					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGCTGCTCCAGGGCCGTCAT	0.662000													4	135					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522000													5	367					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741872	98741872	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98741872G>C	ENST00000286067.2	+	1	832	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	242										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAGCCCCTAGACATACAGTA	0.498000													21	155					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116739883	116739883	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:116739883A>G	ENST00000265437.5	+	2	433	c.219A>G	c.(217-219)atA>atG	p.I73M	ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393447.4_Missense_Mutation_p.I30M|ST7_ENST00000393443.1_Missense_Mutation_p.I23M|ST7_ENST00000393444.3_Missense_Mutation_p.I30M|ST7_ENST00000422922.1_Missense_Mutation_p.I27M|ST7_ENST00000393449.1_Missense_Mutation_p.I73M|ST7_ENST00000393451.3_Missense_Mutation_p.I73M|ST7_ENST00000393446.2_Missense_Mutation_p.I73M|ST7_ENST00000432298.1_Missense_Mutation_p.I27M|ST7_ENST00000323984.3_Missense_Mutation_p.I73M|ST7_ENST00000465133.1_Missense_Mutation_p.I30M|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	73						integral to membrane	binding	p.I73I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCACTAATATCAGGGCTTA	0.373000													4	186					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89190005	89190005	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:89190005T>C	ENST00000295908.6	-	4	984	c.595A>G	c.(595-597)Att>Gtt	p.I199V	PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_3'UTR	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	199	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ACCAGTTCAATACCATCTCGC	0.428000													65	147					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19701703	19701703	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:19701703C>T	ENST00000397977.3	+	15	2234	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	612					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAATTTGCCAACAAGGAA	0.368000													4	163					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534814	55534814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:55534814C>G	ENST00000220676.1	+	3	901	c.753C>G	c.(751-753)taC>taG	p.Y251*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	251			Y -> C (in dbSNP:rs16920614).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCGTGTGTACCCCAAGGGAA	0.433000													55	115					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													8	124					5.18039e-06	5.4807e-06	1	1	0
ZC2HC1A	51101	broad.mit.edu	37	8	79601604	79601604	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:79601604A>G	ENST00000263849.4	+	5	602	c.500A>G	c.(499-501)cAg>cGg	p.Q167R	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	167																	TCTCGGACACAGGTGGTAAGT	0.323000													4	183					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128312442	128312442	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:128312442G>A	ENST00000368227.3	-	21	3393	c.3027C>T	c.(3025-3027)ggC>ggT	p.G1009G	PTPRK_ENST00000368226.4_Silent_p.G992G|PTPRK_ENST00000532331.1_Silent_p.G1014G|PTPRK_ENST00000368210.3_Silent_p.G1010G|PTPRK_ENST00000368215.3_Silent_p.G991G|PTPRK_ENST00000368207.3_Silent_p.G1024G|PTPRK_ENST00000368213.5_Silent_p.G998G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	991	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCTTACCCGGCCAACCTCAA	0.348000													4	149					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892666	58892666	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:58892666C>T	ENST00000343597.3	+	4	1287	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	FAM111B_ENST00000411426.1_Missense_Mutation_p.R336W|FAM111B_ENST00000529618.1_Missense_Mutation_p.R336W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	366							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ACAAGTTAGACGGAGGCCGCA	0.363000													46	226					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026278	176026278	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:176026278C>T	ENST00000303991.4	-	2	735	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	186						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTTCAGGCTCTGCCTTTC	0.502000													63	109					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	419090	419090	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:419090C>T	ENST00000399788.2	-	22	3619	c.3257G>A	c.(3256-3258)gGc>gAc	p.G1086D	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1086D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1086					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTATTTTTGCCACTCCCATA	0.378000			T	NUP98	AML								5	309					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645672	186645672	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:186645672G>A	ENST00000367468.5	-	7	1033	c.897C>T	c.(895-897)tgC>tgT	p.C299C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	299					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TAAGCACATCGCATACTCTGT	0.463000													59	222					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-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			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						CCCACAGTCCGCACACTGCCG	0.612000													7	435					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:168315910G>A	ENST00000366806.2	+	18	2483	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537000			T	MLL	AL								4	175					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	284					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:19751462G>T	ENST00000400113.3	-	4	765	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	221					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACGTGGGACGCTCGATGTCC	0.562000													7	262					0.0293803	0.0297884	1	1	0
MUC16	94025	broad.mit.edu	37	19	9049380	9049380	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:9049380T>C	ENST00000397910.4	-	5	32454	c.32251A>G	c.(32251-32253)Act>Gct	p.T10751A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10753	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGAATAGTCATATTTCTG	0.463000													125	179					0	0	1	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296183	7296183	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7296183G>A	ENST00000535512.1	-	9	1613	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576362.1_Missense_Mutation_p.A175V			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	199					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTGGCGATCGGCATCCTGGAT	0.587000													5	488					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								49	73					1.89013e-27	2.09059e-27	1	1	0
ERMN	57471	broad.mit.edu	37	2	158178296	158178296	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:158178296C>G	ENST00000410096.1	-	3	633	c.342G>C	c.(340-342)caG>caC	p.Q114H	ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000535935.1_Missense_Mutation_p.Q8H|ERMN_ENST00000420719.2_Missense_Mutation_p.Q94H|ERMN_ENST00000397283.2_Missense_Mutation_p.Q127H	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	114						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTTCTCCCACTGATGCCCTG	0.413000													21	78					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:137885942G>A	ENST00000260803.4	-	5	848	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	232						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATCAAGGCGGCAAACTTCAC	0.393000													4	148					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507263	71507263	+	Silent	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:71507263A>G	ENST00000528685.1	+	3	360	c.360A>G	c.(358-360)acA>acG	p.T120T	FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						CTGTCCCTACAGGACTCCAGT	0.627000													5	237					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:82784468C>T	ENST00000423517.2	-	2	1826	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_ENST00000333891.8_Missense_Mutation_p.A497T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	443	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612000													7	544					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													5	508					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036786	193036786	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:193036786A>C	ENST00000342358.4	-	17	2144	c.2027T>G	c.(2026-2028)tTa>tGa	p.L676*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	676					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCTGGCTAAGTGCTCGAC	0.483000													112	151					0	0	1	0	0
SPACA4	171169	broad.mit.edu	37	19	49110580	49110580	+	Silent	SNP	G	G	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:49110580G>T	ENST00000321762.1	+	1	581	c.345G>T	c.(343-345)ctG>ctT	p.L115L	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	115					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CACTGGGGCTGGGTATGCTGC	0.642000													3	18					6.4e-05	6.67429e-05	1	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733663	56733663	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:56733663G>C	ENST00000587340.1	-	7	1467	c.772C>G	c.(772-774)Ccc>Gcc	p.P258A	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P258A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P257A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.P112A|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.P141A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTTTGGGGGGTCCTTCCCC	0.502000													61	158					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106480621	106480621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:106480621G>A	ENST00000261402.2	-	3	1783	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	135	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCCTTTGCTGGCATATTCCAT	0.493000													5	277					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98655082	98655082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:98655082C>T	ENST00000361125.1	-	4	615	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMURF1_ENST00000361368.2_Missense_Mutation_p.R99Q|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	99	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAGAGCAGCCGCACACAGCC	0.458000													8	252					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703524	198703524	+	Silent	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:198703524C>A	ENST00000367376.2	+	22	2412	c.2241C>A	c.(2239-2241)gtC>gtA	p.V747V	PTPRC_ENST00000352140.3_Silent_p.V699V|PTPRC_ENST00000594404.1_Silent_p.V586V|PTPRC_ENST00000442510.2_Silent_p.V749V|PTPRC_ENST00000348564.6_Silent_p.V588V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	747	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGTTATTGTCATGGTCACTC	0.408000													15	641					1.3612e-06	1.4831e-06	1	1	0
PRSS8	5652	broad.mit.edu	37	16	31143813	31143813	+	Silent	SNP	C	C	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:31143813C>T	ENST00000317508.6	-	5	905	c.642G>A	c.(640-642)ccG>ccA	p.P214P	PRSS8_ENST00000568261.1_Silent_p.P160P	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	214	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGACAAAGTGCGGCTCCTCAG	0.612000													4	176					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839296	100839296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839296C>A	ENST00000379423.3	-	6	814	c.754G>T	c.(754-756)Gga>Tga	p.G252*	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_Silent_p.L319L			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAGCTGCTCCAGGGCCGTCA	0.657000													4	138					2.56e-06	2.74824e-06	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92887696	92887696	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:92887696A>G	ENST00000544910.1	+	9	698	c.478A>G	c.(478-480)Atg>Gtg	p.M160V	CCDC132_ENST00000541136.1_Start_Codon_SNP_p.M1V|CCDC132_ENST00000305866.5_Missense_Mutation_p.M190V|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.M190V|CCDC132_ENST00000535481.1_Intron	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	190										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAGTGAAATGCTGGAGGT	0.313000													50	286					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379897	10379897	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:10379897A>C	ENST00000397077.1	-	21	3823	c.3248T>G	c.(3247-3249)aTc>aGc	p.I1083S	ATP2B2_ENST00000383800.4_Missense_Mutation_p.I1083S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.I1128S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I1114S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I1128S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1128					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAACCACAGGATCTGGCCCCG	0.682000													6	100					0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805612	58805612	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:58805612G>C	ENST00000196548.5	+	4	569	c.438G>C	c.(436-438)caG>caC	p.Q146H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTCAGAGCCAGAGTCTGGCAC	0.517000													6	34					0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60170485	60170485	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:60170485G>A	ENST00000426742.2	-	13	1408	c.974C>T	c.(973-975)cCg>cTg	p.P325L	ERCC8_ENST00000543101.1_Missense_Mutation_p.P230L|ERCC8_ENST00000265038.5_Missense_Mutation_p.P383L|ERCC8_ENST00000462279.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	383					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCAAAGGCCGGATTTAATTG	0.313000													42	56					0	0	1	0	0
LRRC37A	9884	broad.mit.edu	37	17	44408247	44408247	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:44408247G>A	ENST00000320254.5	+	9	3607	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	LRRC37A_ENST00000393465.3_Missense_Mutation_p.E1202K|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.E240K|ARL17B_ENST00000575698.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1202						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAACGCTGCCGAAGAAAAAAG	0.587000													80	16					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079655	42079655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:42079655A>T	ENST00000395925.3	-	7	1094	c.1010T>A	c.(1009-1011)tTa>tAa	p.L337*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	337					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTTGCAGATAAGTGACCATA	0.413000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				55	128					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044190	163044192	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:163044190_163044192delAGA	ENST00000421743.2	+	6	909_911	c.749_751delAGA	c.(748-753)cag>c	p.QK250del	RGS4_ENST00000527809.1_In_Frame_Del_p.QK135del|RGS4_ENST00000367909.6_In_Frame_Del_p.QK153del|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_In_Frame_Del_p.QK135del	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	153					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GATGAGGCCCAGAAGAAGATTTT	0.512													271	482	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	8	---	---	---	---					
TRIM23	373	broad.mit.edu	37	5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:64910016delT	ENST00000231524.9	-	3	646	c.275delA	c.(274-276)atfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Del_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Del_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N92I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TAAAGCAAAATTTTTTTTCAA	0.358													7	296	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													12	739	---	---	---	---					
KIAA1586	57691	broad.mit.edu	37	6	56919323	56919325	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:56919323_56919325delAAT	ENST00000370733.4	+	4	2233_2235	c.2026_2028delAAT	c.(2026-2028)del	p.N678del	KIAA1586_ENST00000545356.1_In_Frame_Del_p.N651del	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	678							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGAATTTGTAAATAATAATATAA	0.276													19	59	---	---	---	---					
WDR60	55112	broad.mit.edu	37	7	158669356	158669359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:158669356_158669359delAGAG	ENST00000407559.3	+	4	705_708	c.547_550delAGAG	c.(547-552)aafs	p.RE183fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	183										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGATGAAGATAGAGAAAGAAGATA	0.348													7	13	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15469946	15469948	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:15469946_15469948delCTC	ENST00000380733.4	-	11	1364_1366	c.1021_1023delGAG	c.(1021-1023)del	p.E341del	PSIP1_ENST00000380738.4_In_Frame_Del_p.E341del			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	341					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCGCTTCTTCTCCACTTTCTTA	0.296													35	85	---	---	---	---					
KIF24	347240	broad.mit.edu	37	9	34311231	34311233	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:34311231_34311233delCTT	ENST00000379166.2	-	2	231_233	c.112_114delAAG	c.(112-114)del	p.K38del	KIF24_ENST00000402558.2_In_Frame_Del_p.K38del|KIF24_ENST00000345050.2_In_Frame_Del_p.K38del|KIF24_ENST00000379174.3_In_Frame_Del_p.K38del	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	38	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGAGTAGTCCTTCATTGTAATC	0.365													11	41	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	288	---	---	---	---					
UGGT2	55757	broad.mit.edu	37	13	96665687	96665690	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:96665687_96665690delTTTG	ENST00000376747.3	-	5	601_604	c.531_534delCAAA	c.(529-534)aafs	p.NK177fs	UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	177					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTAAGTTCTCTTTGTTTGTAGGAA	0.328													52	64	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													9	84	---	---	---	---					
RP11-114H24.2	0	broad.mit.edu	37	15	78215586	78215587	+	RNA	INS	-	-	T			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:78215586_78215587insT	ENST00000567226.1	-	0	225																											AAAATGAGAAATTTAAAAAAAA	0.441													4	3	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													4	9	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18823290	18823293	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:18823290_18823293delCTGA	ENST00000446231.2	-	61	11190_11193	c.10778_10781delTCAG	c.(10777-10782)gafs	p.VR3593fs	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Frame_Shift_Del_p.VR3594fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3593					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAGGGTCTCTGACTGCCTTTTT	0.377													67	134	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													5	9	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7579323_7579324insA	ENST00000420246.2	-	4	495_496	c.363_364insT	c.(361-366)tctgacfs	p.D122fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGCAAGTCACAGACTTGGCTG	0.559		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			71	97	---	---	---	---					
AATF	26574	broad.mit.edu	37	17	35306431	35306431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:35306431delG	ENST00000225402.5	+	1	257	c.6delG	c.(4-6)gcfs	p.A2fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	2				AG -> GR (in Ref. 2; AAD52016).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGACGATGGCGGGGCCGCAGC	0.687													2	4	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													3	3	---	---	---	---					
RP3-410C9.2	0	broad.mit.edu	37	20	26173891	26173892	+	RNA	DEL	AG	AG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr20:26173891_26173892delAG	ENST00000416638.1	+	0	67																											aaaaagaaaaagagaaaagaga	0.386													3	3	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													5	6	---	---	---	---					
SEC14L2	23541	broad.mit.edu	37	22	30811775	30811776	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:30811775_30811776delAT	ENST00000312932.9	+	9	952_953	c.692_693delAT	c.(691-693)cfs	p.H231fs	SEC14L2_ENST00000403484.1_Frame_Shift_Del_p.H157fs|SEC14L2_ENST00000402592.3_Frame_Shift_Del_p.H148fs|SEC14L2_ENST00000405717.3_Frame_Shift_Del_p.H231fs|RP4-539M6.19_ENST00000439838.1_Frame_Shift_Del_p.H65fs	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	231	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTACTGAAACATATCAGCCCTG	0.500													48	54	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)cafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTCCCAGTTGGTATGTTGAA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						158	31	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													10	212	---	---	---	---