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
LRRC37A6P	387646	broad.mit.edu	37	10	27536089	27536089	+	RNA	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr10:27536089C>T	ENST00000574842.1	+	0	255																											TTATGAGGCTCTTCACTGCAG	0.438000													6	24					0	0	0.021553	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576753	158576753	+	Silent	SNP	G	G	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:158576753G>A	ENST00000361284.1	+	1	525	c.525G>A	c.(523-525)caG>caA	p.Q175Q		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATGAAATCCAGCACTTTTTTT	0.498000													46	69					0	0	0.131918	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	65					0	0	0.115264	0	0
OSCP1	127700	broad.mit.edu	37	1	36915931	36915931	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:36915931C>T	ENST00000356637.5	-	1	103	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	OSCP1_ENST00000235532.5_Missense_Mutation_p.G14S|OSCP1_ENST00000354267.3_Missense_Mutation_p.G14S|OSCP1_ENST00000315643.9_Missense_Mutation_p.G14S			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	14					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATCTCCCCGCCCAAGTTCAAG	0.647000													15	37					0	0	0.049695	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	68					0	0	0.058154	0	0
CLIP1	6249	broad.mit.edu	37	12	122803778	122803778	+	Splice_Site	SNP	C	C	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr12:122803778C>A	ENST00000358808.2	-	17	3488		c.e17+1		CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AATCTGATTACTTCATTCTGT	0.388000													10	24					4.68919e-08	1.69781e-07	0.069234	1	0
H6PD	9563	broad.mit.edu	37	1	9323860	9323860	+	Silent	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:9323860C>T	ENST00000377403.2	+	5	1610	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	H6PD_ENST00000602477.1_Silent_p.L447L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	436	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CACCTGGGCTCCGCCTTTTCG	0.647000													7	35					0	0	0.038147	0	0
AHCY	191	broad.mit.edu	37	20	32878564	32878564	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr20:32878564T>C	ENST00000538132.1	-	6	1041	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	AHCY_ENST00000217426.2_Missense_Mutation_p.I247V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCGTTGATGGGGTCAATC	0.632000													14	48					0	0	0.132662	0	0
MYBL2	4605	broad.mit.edu	37	20	42333976	42333976	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr20:42333976C>T	ENST00000217026.4	+	9	1610	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	MYBL2_ENST00000396863.4_Missense_Mutation_p.P471S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	495						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACAAGACACCCCTGCACCA	0.617000													5	26					0	0	0.014758	0	0
AMOTL2	51421	broad.mit.edu	37	3	134090193	134090193	+	Missense_Mutation	SNP	G	G	A	rs148668173	byFrequency	TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr3:134090193G>A	ENST00000514516.1	-	2	435	c.257C>T	c.(256-258)aCg>aTg	p.T86M	AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000513145.1_Missense_Mutation_p.T28M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.T28M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.T28M	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	28										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGCGTGCGCGTCTCAGTCAG	0.652000													6	26					0	0	0.029380	0	0
OR8B2	26595	broad.mit.edu	37	11	124252443	124252443	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr11:124252443G>T	ENST00000375013.2	-	1	815	c.797C>A	c.(796-798)tCt>tAt	p.S266Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGCTCCATAGATCCAGAAGA	0.413000													10	56					1.67942e-08	6.29781e-08	0.038395	1	0
LILRA3	11026	broad.mit.edu	37	19	54800084	54800084	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr19:54800084G>C	ENST00000391745.1	-	11	1649	c.1333C>G	c.(1333-1335)Cca>Gca	p.P445A	LILRA3_ENST00000391744.3_Missense_Mutation_p.P364A|LILRA3_ENST00000251390.3_Missense_Mutation_p.P428A					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTTTGTGGTGGGCTGAGGGTC	0.493000													8	26					0	0	0.069234	0	0
AHNAK	79026	broad.mit.edu	37	11	62293257	62293257	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr11:62293257T>A	ENST00000378024.4	-	5	8906	c.8632A>T	c.(8632-8634)Att>Ttt	p.I2878F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2878					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)				GGGACATCAATGTCCACTTTG	0.488000													34	150					0	0	0.054565	0	0
BCAP29	55973	broad.mit.edu	37	7	107234412	107234412	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr7:107234412A>T	ENST00000465919.1	+	0	170				BCAP29_ENST00000379119.2_Missense_Mutation_p.E69V|BCAP29_ENST00000445771.2_Missense_Mutation_p.E69V|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.E69V|BCAP29_ENST00000005259.4_Missense_Mutation_p.E69V			Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						GCTGTGAGAGAAGTAAGGAAA	0.363000													7	29					0	0	0.047766	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	87					0	0	0.014758	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	7					0	0	0.014758	0	0
RYR3	6263	broad.mit.edu	37	15	33833066	33833066	+	Silent	SNP	G	G	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr15:33833066G>A	ENST00000389232.4	+	7	691	c.621G>A	c.(619-621)acG>acA	p.T207T	RYR3_ENST00000415757.3_Silent_p.T207T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	207	MIR 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACATCCTACGTGCTCAGGAA	0.423000													12	22					0	0	0.119110	0	0
CACHD1	57685	broad.mit.edu	37	1	65107576	65107576	+	Silent	SNP	G	G	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:65107576G>A	ENST00000371073.2	+	8	1080	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	CACHD1_ENST00000290039.5_Silent_p.A309A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	360	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATAAAAAAGCGACTCTCCAAG	0.378000													10	25					0	0	0.058154	0	0
ASXL2	55252	broad.mit.edu	37	2	25967144	25967144	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr2:25967144C>T	ENST00000435504.4	-	13	2355	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	ASXL2_ENST00000272341.4_Missense_Mutation_p.G428R|ASXL2_ENST00000404843.1_Missense_Mutation_p.G428R|ASXL2_ENST00000336112.4_Missense_Mutation_p.G660R			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	688	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATGGTCCCTCCAACTGAG	0.617000													13	48					0	0	0.093190	0	0
SPEF2	79925	broad.mit.edu	37	5	35654685	35654685	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr5:35654685G>A	ENST00000440995.2	+	7	835	c.835G>A	c.(835-837)Gat>Aat	p.D279N	SPEF2_ENST00000509059.1_Missense_Mutation_p.D279N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D279N|SPEF2_ENST00000282469.6_Missense_Mutation_p.D279N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	279					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAACCACCGATTTGTTAAA	0.373000													6	24					0	0	0.029380	0	0
POLR3C	10623	broad.mit.edu	37	1	145608466	145608466	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:145608466C>T	ENST00000334163.3	-	3	501	c.341G>A	c.(340-342)gGc>gAc	p.G114D	POLR3C_ENST00000369294.1_Missense_Mutation_p.G114D|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	114					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGTCAGTTTGCCGTTCAACAG	0.463000													4	63					0	0	0.014758	0	0
NEK1	4750	broad.mit.edu	37	4	170428265	170428265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr4:170428265C>A	ENST00000439128.2	-	21	2486	c.1846G>T	c.(1846-1848)Gct>Tct	p.A616S	NEK1_ENST00000507142.1_Missense_Mutation_p.A644S|NEK1_ENST00000512193.1_Missense_Mutation_p.A547S|NEK1_ENST00000511633.1_Missense_Mutation_p.A600S|NEK1_ENST00000510533.1_Missense_Mutation_p.A572S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	616					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGTACAGCAGCACGTGCATTT	0.358000													3	15					6.4e-05	0.000224	0.115264	1	0
HMCN1	83872	broad.mit.edu	37	1	186094764	186094764	+	Silent	SNP	A	A	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr1:186094764A>T	ENST00000271588.4	+	82	12757	c.12528A>T	c.(12526-12528)ggA>ggT	p.G4176G	HMCN1_ENST00000367492.2_Silent_p.G4176G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4176	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTACAGAAGGACACTACACGG	0.378000													10	62					0	0	0.058154	0	0
ZYX	7791	broad.mit.edu	37	7	143078812	143078812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr7:143078812C>T	ENST00000322764.5	+	2	493	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ZYX_ENST00000449423.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	50					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TCCCCCGGCACCCGGGGCCCA	0.711000													3	12					0	0	0.115264	0	0
MYO16	23026	broad.mit.edu	37	13	109518569	109518569	+	Silent	SNP	G	G	A			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr13:109518569G>A	ENST00000356711.2	+	12	1464	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	MYO16_ENST00000251041.5_Silent_p.E446E|MYO16_ENST00000357550.2_Silent_p.E446E	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	446	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATACAAGGAGCTTCCAATTT	0.308000													7	40					0	0	0.038147	0	0
EPC2	26122	broad.mit.edu	37	2	149447935	149447943	+	Splice_Site	DEL	TATTCAGCG	TATTCAGCG	-	rs115716706	by1000genomes	TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr2:149447935_149447943delTATTCAGCG	ENST00000258484.6	+	2	340_347	c.313_splice	c.e2+1	p.Q102_splice	EPC2_ENST00000409654.1_Splice_Site_p.Q102_splice	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	102					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTCATTCATATTCAGCGTAAGTTTGTT	0.325													11	78	---	---	---	---					
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													4	5	---	---	---	---					
SLC41A3	54946	broad.mit.edu	37	3	125786853	125786853	+	Frame_Shift_Del	DEL	G	G	-	rs57029085	byFrequency	TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr3:125786853delG	ENST00000360370.4	-	2	253	c.210delC	c.(208-210)acfs	p.T70fs	SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000346785.5_Frame_Shift_Del_p.T70fs|SLC41A3_ENST00000315891.6_Frame_Shift_Del_p.T70fs|SLC41A3_ENST00000508835.1_Intron			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	70						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGAAGGGCACGGTCACCTGAA	0.607													13	119	---	---	---	---					
TNFAIP8	25816	broad.mit.edu	37	5	118728603	118728603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr5:118728603delT	ENST00000504771.2	+	2	1901	c.124delT	c.(124-126)tafs	p.L42fs	TNFAIP8_ENST00000274456.6_Frame_Shift_Del_p.L32fs|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Frame_Shift_Del_p.L42fs|TNFAIP8_ENST00000504642.1_Frame_Shift_Del_p.L44fs|TNFAIP8_ENST00000513374.1_Frame_Shift_Del_p.L54fs	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	42					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CGCCACCACCTTAATAGACGA	0.453													2	4	---	---	---	---					
ARHGAP21	57584	broad.mit.edu	37	10	24924024	24924027	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr10:24924024_24924027delTTTG	ENST00000396432.2	-	5	760_763	c.274_277delCAAA	c.(274-279)gafs	p.QR92fs		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	91	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAGCGGTTTCTTTGTTTTCCTGTT	0.338													9	30	---	---	---	---					
LOC102723809	102723809	broad.mit.edu	37	14	65002317	65002317	+	RNA	DEL	A	A	-			TCGA-55-6984-01A-11D-1945-08	TCGA-55-6984-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309f5324-5608-4f62-b744-5ab268b70927	95bd4570-1588-4464-a301-aa425af048b8	g.chr14:65002317delA	ENST00000554918.1	-	0	52																											cttggttctcattctctcttg	0.408													4	7	---	---	---	---					
