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
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	110					0.150653	0.150653	1	1	0
ALAS2	212	broad.mit.edu	37	X	55052378	55052378	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	ENST00000330807.5	-	2	193	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I|ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	19					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542000													14	62					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418932	135418932	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:135418932G>A	ENST00000338588.3	-	3	578	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	105						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGAGCCGGCGGATGTCTGGG	0.602000													12	195					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													5	51					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939961	76939961	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	ENST00000373344.5	-	9	1001	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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	p.?(1)		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)	TAGCAATACCATTGGTTGTTT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						111	98					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44120532	44120532	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	ENST00000420999.1	-	4	478	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	132	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413000													23	31					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2414229	2414229	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:2414229C>T	ENST00000360876.4	+	13	1933	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	626					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGTGTTGGCGGGCCTGAGG	0.627000													4	134					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590705	56590705	+	Silent	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:56590705C>T	ENST00000338222.5	+	1	680	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	133						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGAGTAACTCCACACCTATTT	0.572000													7	56					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299672	125299672	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	ENST00000538699.1	-	2	316	c.236C>T	c.(235-237)gCc>gTc	p.A79V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A79V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706000													27	56					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645153	45645153	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:45645153C>G	ENST00000267430.5	+	14	3281	c.3196C>G	c.(3196-3198)Ctt>Gtt	p.L1066V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1066					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAGTTGCCTTTATGATAT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	31					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577849	116577849	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:116577849C>T	ENST00000369503.4	+	7	1116	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-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)		ACTCTGAGTGCGGGTGATCTA	0.453000													4	78					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14535207	14535207	+	RNA	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	ENST00000273083.3	-	0	3162							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672000													9	9					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								18	40					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785839	140785839	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:140785839G>A	ENST00000370515.3	-	2	410	c.77C>T	c.(76-78)cCg>cTg	p.P26L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGAGGTCTCCGGCATCTGTTA	0.493000													7	165					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197060134	197060134	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:197060134A>G	ENST00000367409.4	-	23	9738	c.9482T>C	c.(9481-9483)aTt>aCt	p.I3161T	ASPM_ENST00000367408.1_Missense_Mutation_p.I826T|ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3161					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATTTCTGAATAAATCTCTT	0.328000													3	37					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039467	153039467	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	ENST00000538966.1	+	21	3773	c.3502C>A	c.(3502-3504)Cag>Aag	p.Q1168K	PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q1145K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1145	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672000													29	64					9.39395e-14	9.67024e-14	1	1	0
TP53	7157	broad.mit.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	ENST00000420246.2	-	7	827	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000269305.4_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; 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.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)		GTTGTAGTGGATGGTGGTACA	0.552000		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)			40	9					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	ENST00000397412.3	+	18	3272	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1058						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602000													22	43					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418000													4	124					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755828	39755828	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr21:39755828G>A	ENST00000442448.1	-	11	1157	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	ERG_ENST00000398910.1_Missense_Mutation_p.L297F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000417133.2_Missense_Mutation_p.L320F|ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398907.1_Missense_Mutation_p.L290F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	320					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACTGCCAAAGCTGGATCTGG	0.572000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								5	86					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	ENST00000324071.4	+	5	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	253					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGAAGCACCGTGAAACCCTG	0.527000													63	129					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	ENST00000252590.4	-	3	1181	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	374						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622000													40	67					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:13208856A>G	ENST00000197268.8	+	2	529	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	137						integral to membrane		p.S137G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517000													10	36					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	ENST00000039989.4	+	10	1312	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	433							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373000													10	20					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	ENST00000261381.6	-	12	2647	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	855					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562000													48	38					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	ENST00000256079.4	-	7	1149	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R271W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418000													73	119					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	ENST00000331459.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	122					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537000													22	103					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													3	60					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	31					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	ENST00000270349.9	-	9	1349	c.1222delG	c.(1222-1224)ccfs	p.A408fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	408					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGACCACGGCCCAGGCTGAG	0.637													2	4	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													4	3	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	11	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	ENST00000337537.3	-	9	1465_1469	c.863_867delTAGTA	c.(862-867)afs	p.IV288fs	PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	288					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293													8	15	---	---	---	---					
TMEM143	55260	broad.mit.edu	37	19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	ENST00000293261.3	-	7	1468	c.1152delA	c.(1150-1152)cafs	p.Q384fs	TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	384						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	10	---	---	---	---					
RLIM	51132	broad.mit.edu	37	X	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G	rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	ENST00000332687.6	-	4	1168_1169	c.950_951insC	c.(949-951)cacfs	p.H317fs	RLIM_ENST00000349225.2_Frame_Shift_Ins_p.H317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	317					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.480													30	34	---	---	---	---