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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	78					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726684	32726684	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:32726684T>C	ENST00000435145.2	-	3	650	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.I197V|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.I197V			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	197					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CAGGTGTAGATGTCTCCACGC	0.567000													4	66					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152501297	152501297	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:152501297C>G	ENST00000367255.5	-	129	24035	c.23434G>C	c.(23434-23436)Gaa>Caa	p.E7812Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7424Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7812Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2336Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7812					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTTCTTCAATGAGAATG	0.388000										HNSCC(10;0.0054)			29	48					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63070001	63070001	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:63070001C>T	ENST00000332793.6	+	7	1273	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	424						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGGCCAACACGTTTGTGCCC	0.433000													33	54					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	143					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004826	248004826	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:248004826C>T	ENST00000355784.2	-	1	428	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCAGATGGCCAGGTAACGG	0.592000													3	29					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	219035	219035	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:219035G>C	ENST00000382743.4	-	6	1078	c.976C>G	c.(976-978)Cct>Gct	p.P326A	SIRT3_ENST00000529382.1_Missense_Mutation_p.P184A|SIRT3_ENST00000525319.1_Missense_Mutation_p.P245A|SIRT3_ENST00000524564.1_Missense_Mutation_p.P262A|SIRT3_ENST00000532956.1_Missense_Mutation_p.P272A	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	326	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTGGCAAAAGGCTCCACCTGA	0.602000													4	14					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960121	200960121	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:200960121G>C	ENST00000332129.2	-	18	2927	c.2611C>G	c.(2611-2613)Cgc>Ggc	p.R871G	KIF21B_ENST00000422435.2_Missense_Mutation_p.R871G|KIF21B_ENST00000360529.5_Missense_Mutation_p.R871G|KIF21B_ENST00000461742.2_Missense_Mutation_p.R871G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	871					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCACTGGCGCACGATGCTG	0.617000													29	43					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10622217	10622217	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr20:10622217C>T	ENST00000254958.5	-	23	3322	c.2807G>A	c.(2806-2808)tGt>tAt	p.C936Y	JAG1_ENST00000423891.2_Missense_Mutation_p.C777Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	936					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACCGACACTCGCCCAC	0.567000									Alagille Syndrome				83	108					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734108	58734108	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:58734108A>G	ENST00000305921.3	+	5	1398	c.1166A>G	c.(1165-1167)gAt>gGt	p.D389G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	389					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCAATGAAGATGAGTTATAC	0.468000													30	60					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259547	16259547	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:16259547G>A	ENST00000375759.3	+	11	7016	c.6812G>A	c.(6811-6813)gGc>gAc	p.G2271D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2271	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGTATCTGGCATCCTGGAA	0.557000													4	126					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14854471	14854471	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:14854471T>C	ENST00000315576.3	-	19	2760	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	EMR2_ENST00000353005.1_Missense_Mutation_p.Q628R|EMR2_ENST00000595839.1_Missense_Mutation_p.Q628R|EMR2_ENST00000392965.3_Missense_Mutation_p.Q712R|EMR2_ENST00000601345.1_Missense_Mutation_p.Q759R|EMR2_ENST00000596991.2_Missense_Mutation_p.Q759R|EMR2_ENST00000594294.1_Missense_Mutation_p.Q721R|EMR2_ENST00000353876.1_Missense_Mutation_p.Q677R|EMR2_ENST00000594076.1_Missense_Mutation_p.Q677R|EMR2_ENST00000346057.1_Missense_Mutation_p.Q721R|EMR2_ENST00000392967.2_Missense_Mutation_p.Q759R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	770					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAAGACACCCTGCAGGCTGTT	0.607000													8	134					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403563	143403563	+	RNA	SNP	C	C	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453000													3	27					1	1	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													7	67					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85658466	85658466	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr4:85658466T>C	ENST00000322366.6	-	41	7035	c.6628A>G	c.(6628-6630)Agt>Ggt	p.S2210G	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2210G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2210						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTTCTTACTATGTATCAGT	0.393000													31	45					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													4	86					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	24					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													5	259					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212120037	212120037	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:212120037C>T	ENST00000366994.3	-	18	2431	c.2327G>A	c.(2326-2328)tGc>tAc	p.C776Y	INTS7_ENST00000366993.3_Missense_Mutation_p.C762Y|INTS7_ENST00000440600.2_Missense_Mutation_p.C727Y|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	776					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTGCAGAGGCATGCTGTGTG	0.358000													33	48					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865222	41865222	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr15:41865222T>G	ENST00000263798.3	+	16	2122	c.1898T>G	c.(1897-1899)aTc>aGc	p.I633S	TYRO3_ENST00000559066.1_Missense_Mutation_p.I588S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	633	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGACCCTGATCCGGTTCATG	0.592000													24	61					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29665157	29665157	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29665157G>A	ENST00000358273.4	+	45	7202	c.6819_splice	c.e45+1	p.K2273_splice	NF1_ENST00000444181.2_Splice_Site_p.K66_splice|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Splice_Site_p.K2252_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2273					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTAGCAAGGTACCTGTTC	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			51	70					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491114	58491114	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:58491114T>A	ENST00000341164.4	-	7	1554	c.934A>T	c.(934-936)Aca>Tca	p.T312S	ZNF606_ENST00000536132.1_Missense_Mutation_p.T222S	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTCTCCTGTGTGAATTCCT	0.343000													33	48					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662000													3	12					0.00909568	0.00934834	1	1	0
PSAT1	29968	broad.mit.edu	37	9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463000													5	448					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48134355	48134355	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:48134355A>G	ENST00000418331.2	+	3	524	c.172A>G	c.(172-174)Ata>Gta	p.I58V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.I58V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	58					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAATGGCATAACGCAGAT	0.428000													38	48					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121468835	121468835	+	Silent	SNP	A	A	G			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr8:121468835A>G	ENST00000305949.1	+	7	717	c.672A>G	c.(670-672)gtA>gtG	p.V224V		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	224					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATGTTGTATCTTTAGAAG	0.308000													83	91					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532						endosome membrane	metal ion binding|protein binding	p.A532T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCAGGGATGCGGCCTCCTTT	0.622000													3	61					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120690023	120690023	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr2:120690023G>A	ENST00000263708.2	+	14	1865	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	365						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTTGGCACGGAAATTAATG	0.353000													17	20					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252135	226252135	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:226252135A>T	ENST00000366814.3	+	2	204	c.83A>T	c.(82-84)aAg>aTg	p.K28M	H3F3A_ENST00000366813.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366816.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366815.3_Missense_Mutation_p.K28M					H3 histone, family 3A									p.K28M(79)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCCGCTCGCAAGAGTGCGCCC	0.483000			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48594202	48594202	+	Silent	SNP	G	G	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr3:48594202G>A	ENST00000232375.3	-	1	121	c.9C>T	c.(7-9)tcC>tcT	p.S3S	PFKFB4_ENST00000545984.1_Silent_p.S3S|PFKFB4_ENST00000541519.1_5'UTR|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Intron|PFKFB4_ENST00000416568.1_Silent_p.S3S|PFKFB4_ENST00000383734.2_Silent_p.S3S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	3	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCCCGTGGGGACGCCATCC	0.706000													12	39					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178581188	178581188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr5:178581188delC	ENST00000251582.7	-	8	1345	c.1244delG	c.(1243-1245)gcfs	p.G415fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G415fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	415	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCTCCATGCCCAGCCTGCG	0.697													2	4	---	---	---	---					
PTCHD3P1	0	broad.mit.edu	37	10	29699336	29699337	+	RNA	INS	-	-	T			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr10:29699336_29699337insT	ENST00000427063.2	+	0	87				PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NR_003930.1																						GTGTCTTTTCATTTTTTATTTT	0.366													2	4	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)tcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													7	105	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29508796	29508797	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29508796_29508797insA	ENST00000358273.4	+	7	1106_1107	c.723_724insA	c.(721-726)gatggcfs	p.DG241fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.DG241fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.DG241fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	241					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAGACTGATATGGCTGGTAA	0.317			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	70	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													6	8	---	---	---	---