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
SI	6476	broad.mit.edu	37	3	164792423	164792423	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:164792423T>C	ENST00000264382.3	-	3	213	c.151A>G	c.(151-153)Act>Gct	p.T51A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	51	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCACACGAGTAGTAGCTGGA	0.333000										HNSCC(35;0.089)			23	62					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678649	39678649	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:39678649G>T	ENST00000265708.4	-	6	488	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	129					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACTCCAGGGGTTCTATTCCA	0.308000													24	61					1.64293e-13	1.76199e-13	1	1	0
RP11-204M4.2	0	broad.mit.edu	37	9	41963905	41963905	+	RNA	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:41963905C>T	ENST00000454645.1	-	0	690					NR_003670.1																						CTTTGATTGCCACAATCCCAA	0.388000													14	125					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	862984	862984	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:862984A>G	ENST00000537687.1	+	1	896	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	85					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCGGAGCGTCATCTGTGACTC	0.672000													15	31					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409952	130409952	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:130409952A>G	ENST00000370904.1	-	21	3762	c.2852T>C	c.(2851-2853)cTt>cCt	p.L951P	IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	960	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGATCATAAGGGGCATACT	0.507000													37	68					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138644	55138644	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55138644C>T	ENST00000257290.5	+	9	1652	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	441	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGGCACGCCGCTTCCTGA	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			10	1164					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535256	51535256	+	Silent	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51535256C>A	ENST00000525263.1	-	3	452	c.333G>T	c.(331-333)ctG>ctT	p.L111L	KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250351.4_Silent_p.L111L			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	111	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGCCGCAGCAGCCGGAGGT	0.682000													19	21					7.41877e-09	7.73224e-09	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55136847	55136847	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55136847G>A	ENST00000257290.5	+	8	1500	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAGACAGTGGCCATTATACT	0.348000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			138	1007					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	68					0	0	1	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269717	100269717	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:100269717C>T	ENST00000545021.1	-	4	938	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	168					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TTAAAGAAGCCCATCAGTTGG	0.567000													41	113					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140076	3140076	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:3140076C>T	ENST00000252463.2	-	5	1281	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	398					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGGGCGTGCGCCAGCAGGT	0.697000													12	14					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950322	39950322	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:39950322A>C	ENST00000564288.1	+	100	23108	c.22331A>C	c.(22330-22332)cAt>cCt	p.H7444P	MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7277					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACTTTTCATTCTAGTCGG	0.438000													10	168					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67792514	67792514	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:67792514A>G	ENST00000262345.1	+	4	1101	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	154	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCCACTTATACACTGAGTAT	0.408000													8	45					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161030526	161030526	+	Missense_Mutation	SNP	C	C	T	rs140624114		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:161030526C>T	ENST00000283249.2	-	5	955	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	240	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCCACCTTCGGGTGTGTCA	0.348000													26	43					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296869	62296869	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:62296869A>G	ENST00000378024.4	-	5	5294	c.5020T>C	c.(5020-5022)Tct>Cct	p.S1674P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1674					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGCACAGACACATCCATA	0.493000													96	319					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28263615	28263615	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612000									Oculocutaneous Albinism				4	27					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215823032	215823032	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:215823032C>A	ENST00000272895.7	-	41	6305	c.6086G>T	c.(6085-6087)tGc>tTc	p.C2029F	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2029					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACCCAGTAGCATGTCACGCC	0.418000													5	106					8.12818e-05	8.23953e-05	1	1	0
RET	5979	broad.mit.edu	37	10	43604537	43604537	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:43604537G>A	ENST00000355710.3	+	6	1354	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	RET_ENST00000340058.5_Silent_p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	374					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCTGGCGGTGCTGGTCAATG	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	38					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526626	173526626	+	Silent	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:173526626C>G	ENST00000367714.3	-	10	1490	c.1068G>C	c.(1066-1068)gtG>gtC	p.V356V	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.V254V|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	356					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAATAGGGCTCACTAACAAAA	0.333000													7	162					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849448	54849448	+	Silent	SNP	G	G	A	rs138743259	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:54849448G>A	ENST00000291759.4	-	4	470	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	138	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGAGGGTCACGTTCACTCCTG	0.572000													18	37					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921057	24921057	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:24921057C>T	ENST00000329468.2	+	1	517	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGCCGCCGCCGGCCCCTGCC	0.662000													6	11					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275635	5275635	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5275635C>A	ENST00000380259.2	-	7	1442	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTCAGCACCTTCTTGCCA	0.537000													55	122					1.07796e-43	1.19058e-43	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55131143	55131143	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131143A>T	ENST00000257290.5	+	5	1017	c.686A>T	c.(685-687)gAa>gTa	p.E229V	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAGTCAGGGGAAACGATTGTG	0.428000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			1046	792					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228943	142228943	+	Missense_Mutation	SNP	C	C	T	rs139911158	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:142228943C>T	ENST00000519067.1	-	4	946	c.643G>A	c.(643-645)Gct>Act	p.A215T	SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	266					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTCAGCGCTGCGCTCC	0.672000													55	61					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:53288443C>T	ENST00000566029.1	+	18	4164	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413000													13	143					0	0	1	0	0
RNF113A	7737	broad.mit.edu	37	X	119004589	119004589	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:119004589C>T	ENST00000371442.2	-	1	1202	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	330							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCTGGCAAGTCGGAAGCACCA	0.418000													94	150					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172195811	172195811	+	Missense_Mutation	SNP	G	G	A	rs150141714	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:172195811G>A	ENST00000239223.3	-	4	1300	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	353	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GTAGCTCAGCGCACTGTTCGT	0.617000													33	37					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151332	105151332	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:105151332C>T	ENST00000303694.5	+	3	1249	c.810C>T	c.(808-810)caC>caT	p.H270H	CHST11_ENST00000549260.1_Silent_p.H265H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	270					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATCCCTGCCACATCCACTATG	0.557000													11	15					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								39	61					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	658001	658001	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:658001A>T	ENST00000255622.6	+	17	2163	c.2120A>T	c.(2119-2121)gAg>gTg	p.E707V	PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACCCGGAAGGAGATCGTCATG	0.617000													31	33					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324886	86324886	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:86324886C>G	ENST00000355238.6	-	11	1666	c.1460G>C	c.(1459-1461)gGt>gCt	p.G487A	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	487	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATCTTCATAACCATAGTATGG	0.438000													15	29					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38635967	38635967	+	Silent	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr17:38635967T>C	ENST00000254051.6	-	10	2027	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	623	Phosphatase tensin-type.			K -> E (in Ref. 1; AAN32666 and 3; BAB55413).	apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTGTGACTTTGAAGTGGA	0.617000													3	67					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540255	187540255	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443000										HNSCC(5;0.00058)			116	39					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:27772702C>T	ENST00000333743.6	+	8	1243	c.989C>T	c.(988-990)gCg>gTg	p.A330V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A330V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTCGCCGCGCTGATGGAG	0.547000													19	14					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16684040	16684040	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:16684040G>A	ENST00000513610.1	-	30	4449	c.3995C>T	c.(3994-3996)aCc>aTc	p.T1332I	MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1332					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACATCCAAGGTGCCCTGGAA	0.463000													11	13					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263024	39263024	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr13:39263024G>A	ENST00000280481.7	+	1	1759	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	515					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGGCAGCCGGCCAGGTGGT	0.602000													4	8					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525411	248525411	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:248525411T>C	ENST00000366475.1	+	1	529	c.529T>C	c.(529-531)Tca>Cca	p.S177P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCTTCCTGTCATCAGGCTG	0.532000													77	108					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				sensory perception	voltage-gated sodium channel complex		p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATAGCTCCGATAGGCCTTT	0.488000													30	41					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92535041	92535041	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:92535041C>T	ENST00000298047.6	+	9	8879	c.8862C>T	c.(8860-8862)tcC>tcT	p.S2954S	FAT3_ENST00000525166.1_Silent_p.S2804S|FAT3_ENST00000409404.2_Silent_p.S2954S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2954	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGACACATCCGACGTTAATC	0.527000										TCGA Ovarian(4;0.039)			21	28					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73061471	73061471	+	RNA	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:73061471C>A	ENST00000429829.1	-	0	11117					NR_001564.2																						AGCTATCTCACTGTTGAAATT	0.348000													3	38					6.4e-05	6.57778e-05	1	1	0
MNDA	4332	broad.mit.edu	37	1	158815755	158815755	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:158815755T>C	ENST00000368141.4	+	5	1210	c.949T>C	c.(949-951)Tct>Cct	p.S317P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGCAAGCATCTGGAACAAT	0.318000													40	68					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856732	13856732	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral to membrane	binding	p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348000													45	72					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131185	55131185	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131185T>G	ENST00000257290.5	+	5	1059	c.728T>G	c.(727-729)gTt>gGt	p.V243G	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	243	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATGAGGTGGTTGACCTTCAA	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	1428					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713204	138713204	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:138713204G>A	ENST00000389532.4	-	11	3367	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGGCCTTCCGGAACGGGAAT	0.642000													20	30					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				3	29					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					sensory perception	voltage-gated sodium channel complex		p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458000													4	92					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131197	55131197	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131197G>C	ENST00000257290.5	+	5	1071	c.740G>C	c.(739-741)tGg>tCg	p.W247S	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	247	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACCTTCAATGGACTTACCCT	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	1263					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877730	82877730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:82877730G>A	ENST00000298281.4	+	5	2243	c.1791G>A	c.(1789-1791)tgG>tgA	p.W597*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAAGATGGAAATCTGGTT	0.343000													29	48					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964444	93964444	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:93964444T>C	ENST00000369303.4	-	14	2637	c.2453A>G	c.(2452-2454)gAt>gGt	p.D818G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	818	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTCCATACATCACTGGCTGA	0.383000													22	50					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065956	23065956	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:23065956G>A	ENST00000246006.4	-	1	1021	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R292G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCCGGAATCCTGGT	0.627000													54	80					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166795174	166795174	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:166795174A>G	ENST00000061240.2	+	1	765	c.118A>G	c.(118-120)Aac>Gac	p.N40D	TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	40					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTGATGGGAACGAAGAGGA	0.572000													96	50					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74355062	74355062	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:74355062C>A	ENST00000377044.4	-	5	1660	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	374						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCCTTCCCGCCACTGCTATG	0.433000													9	79					0.000274275	0.000274275	1	1	0
STAM	8027	broad.mit.edu	37	10	17756581	17756581	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:17756581C>G	ENST00000377524.3	+	14	1640	c.1425C>G	c.(1423-1425)agC>agG	p.S475R	STAM_ENST00000540523.1_Missense_Mutation_p.S364R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	475					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATATCCCAGCCAGGCGCCAG	0.473000													47	102					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448000													31	69					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585386	1585386	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:1585386G>A	ENST00000381297.4	-	2	276	c.66C>T	c.(64-66)atC>atT	p.I22I	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCACCGCGATCGCCGGGT	0.697000			T	CRLF2	"""B-ALL, Downs associated ALL"""								5	24					0	0	1	0	0
TRBV9	0	broad.mit.edu	37	7	142239993	142239993	+	RNA	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:142239993A>G	ENST00000390363.2	-	0	65																											GCCACACAGCAGAGGAGCCTG	0.527000													31	35					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095874	145095874	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:145095874G>A	ENST00000377470.3	+	3	1274	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	391										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACCTCGTACCTCATCC	0.622000													23	30					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312192	31312192	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:31312192A>G	ENST00000597505.1	-	5	960		c.e5+1		DCDC1_ENST00000452803.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAAAAATTACCTTTTTCAT	0.333000													37	45					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234756099	234756099	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:234756099T>C	ENST00000411486.2	-	5	411	c.346A>G	c.(346-348)Agc>Ggc	p.S116G	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	116					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTCACCGCTTTTTGAATCT	0.458000													32	43					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031081	21031081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:21031081C>T	ENST00000261383.3	-	41	5886	c.5887G>A	c.(5887-5889)Gtg>Atg	p.V1963M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1963					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCCAGCCACGGTCCACACC	0.488000													4	42					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130364078	130364078	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:130364078T>C	ENST00000456951.1	-	6	1153	c.302A>G	c.(301-303)aAc>aGc	p.N101S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S			Q96PP4	TSG13_HUMAN	testis specific, 13	101										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGTGGGTTGTTGGTCATAAT	0.438000													42	58					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248019	5248019	+	Missense_Mutation	SNP	C	C	A	rs1141387		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5248019C>A	ENST00000335295.3	-	2	278	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	35			V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAGGGTAGACCACCAGCAGC	0.507000									Sickle Cell Trait				21	42					1.00905e-13	1.09808e-13	1	1	0
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													7	93	---	---	---	---					
HSPD1P6	0	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:26426086delT	ENST00000342320.4	+	6	792	c.616delT	c.(616-618)ttfs	p.F207fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCA	0.358													7	2330	---	---	---	---					
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)ttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	1709	---	---	---	---					
UBQLN1	29979	broad.mit.edu	37	9	86294709	86294717	+	In_Frame_Del	DEL	TTATTCAAC	TTATTCAAC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:86294709_86294717delTTATTCAAC	ENST00000376395.4	-	4	1207_1215	c.684_692delGTTGAATAA	c.(682-693)att>at	p.MLNN228del	UBQLN1_ENST00000257468.7_In_Frame_Del_p.MLNN228del	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	228					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TATATCTGGATTATTCAACATATGACTAA	0.330													31	51	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)afs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.530			"""N, S, F"""		hepatocellular carcinoma								38	71	---	---	---	---					
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aag>a	p.KQ400del	NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	400						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.640													7	40	---	---	---	---					
CTD-3187F8.14	0	broad.mit.edu	37	19	51658545	51658545	+	RNA	DEL	A	A	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51658545delA	ENST00000600074.1	-	0	674																											GGCACTGCCTAGCAGGGCATG	0.607													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)gafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TTTCCAGTTCTTTTTTTCCCT	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						71	90	---	---	---	---					
