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
IQCA1	79781	broad.mit.edu	37	2	237405897	237405897	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:237405897C>T	ENST00000409907.3	-	2	519	c.245G>A	c.(244-246)cGc>cAc	p.R82H	IQCA1_ENST00000309507.5_Missense_Mutation_p.R78H|IQCA1_ENST00000431676.2_Missense_Mutation_p.R82H			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	82							ATP binding	p.R82H(1)|p.R89H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTCCAGGATGCGGCCCATCAC	0.512000													3	23					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr9:27950347C>T	ENST00000379992.2	-	6	772	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R108H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108						integral to membrane		p.R108H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438000													6	139					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17434251	17434251	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:17434251C>T	ENST00000302539.4	-	21	2646	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T	ABCC8_ENST00000389817.3_Missense_Mutation_p.A840T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	840	ABC transporter 1.		R -> G (in HHF1).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCTCGGGCCACACTGATT	0.587000													6	29					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79117624	79117624	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr14:79117624G>T	ENST00000554719.1	+	3	548	c.57G>T	c.(55-57)ttG>ttT	p.L19F	NRXN3_ENST00000335750.5_Missense_Mutation_p.L19F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCGCTGACTTGCCTGGCTCCC	0.468000													26	109					3.99451e-17	4.61338e-17	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54802517	54802517	+	Silent	SNP	C	C	T	rs139595343	byFrequency	TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:54802517C>T	ENST00000391745.1	-	9	1291	c.975G>A	c.(973-975)tcG>tcA	p.S325S	LILRA3_ENST00000251390.3_Silent_p.S308S|LILRA3_ENST00000391744.3_Silent_p.S244S					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)		CGCTGGGGGCCGACCACTCGG	0.677000													16	117					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	39					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450209	155450209	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:155450209C>T	ENST00000368346.3	-	3	3091	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D818N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	818					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAAAAGGTCACTAGAGACA	0.418000													4	90					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31616339	31616339	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:31616339A>G	ENST00000395934.2	+	4	411	c.404A>G	c.(403-405)gAt>gGt	p.D135G	ELP4_ENST00000379163.5_Missense_Mutation_p.D135G|ELP4_ENST00000350638.5_Missense_Mutation_p.D135G			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	135					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CCATTACTTGATGATAAATGT	0.294000													9	43					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976497	60976497	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr14:60976497C>T	ENST00000327720.5	+	1	829	c.381C>T	c.(379-381)gaC>gaT	p.D127D		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	127					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CCATTTGGGACGGCGAACAGA	0.587000													3	47					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184889	19184889	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr7:19184889A>C	ENST00000275461.3	-	1	155	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	33					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCGGGTGCGAAGTCGCAGAGG	0.662000													4	88					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23240034	23240034	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:23240034A>T	ENST00000400191.3	+	16	2950	c.2932A>T	c.(2932-2934)Atg>Ttg	p.M978L	EPHB2_ENST00000374630.3_Missense_Mutation_p.M978L|EPHB2_ENST00000374632.3_Missense_Mutation_p.M979L|EPHB2_ENST00000374627.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	978					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCGGGCGCAGATGAACCAGAT	0.587000													6	65					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77920391	77920391	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr14:77920391C>A	ENST00000553888.1	-	2	565	c.55G>T	c.(55-57)Gct>Tct	p.A19S	VIPAS39_ENST00000448935.2_Missense_Mutation_p.A19S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.A45S|VIPAS39_ENST00000343765.2_Missense_Mutation_p.A19S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.A19S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.A19S	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		AAGGTAAAAGCCTTGAACTTG	0.453000													3	66					0.150653	0.156374	1	1	0
FAP	2191	broad.mit.edu	37	2	163083059	163083059	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:163083059T>G	ENST00000188790.4	-	3	371	c.164A>C	c.(163-165)aAa>aCa	p.K55T	FAP_ENST00000443424.1_Missense_Mutation_p.K55T	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	55					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAAAAATGTTTTATAAGAAAA	0.299000													10	33					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr10:37430688C>T	ENST00000374660.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483000													4	56					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25778862	25778862	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr3:25778862A>T	ENST00000422724.2	-	4	596	c.512T>A	c.(511-513)cTg>cAg	p.L171Q	NGLY1_ENST00000396649.3_Silent_p.A322A|NGLY1_ENST00000417874.2_Silent_p.A280A|NGLY1_ENST00000428257.1_Silent_p.A322A|NGLY1_ENST00000280700.5_Silent_p.A322A			Q96IV0	NGLY1_HUMAN	N-glycanase 1	0					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAACCCTACAGCTCGGCAGC	0.453000													9	52					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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)			10	20					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49490630	49490630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:49490630G>A	ENST00000323798.3	-	3	509	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	GYS1_ENST00000541188.1_Missense_Mutation_p.R25C|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000540532.1_Missense_Mutation_p.R25C	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	105					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATCAGCCAGCGCCCGAAATAC	0.617000													5	14					0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132382040	132382040	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr9:132382040C>T	ENST00000372478.4	-	2	779	c.578G>A	c.(577-579)tGt>tAt	p.C193Y	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	193										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GAGGAATGAACAGTTGGGACA	0.597000													32	140					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104725367	104725367	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr12:104725367G>A	ENST00000526691.1	+	12	1760	c.1304G>A	c.(1303-1305)tGt>tAt	p.C435Y	TXNRD1_ENST00000388854.3_Missense_Mutation_p.C435Y|TXNRD1_ENST00000525566.1_Missense_Mutation_p.C533Y|TXNRD1_ENST00000378070.4_Missense_Mutation_p.C482Y|TXNRD1_ENST00000526390.1_Missense_Mutation_p.C427Y|TXNRD1_ENST00000542918.1_Missense_Mutation_p.C433Y|TXNRD1_ENST00000524698.1_Missense_Mutation_p.C383Y|TXNRD1_ENST00000427956.1_Missense_Mutation_p.C498Y|TXNRD1_ENST00000354940.6_Missense_Mutation_p.C383Y|TXNRD1_ENST00000429002.2_Missense_Mutation_p.C533Y|TXNRD1_ENST00000503506.2_Missense_Mutation_p.C383Y|TXNRD1_ENST00000397736.2_Missense_Mutation_p.C427Y|TXNRD1_ENST00000526950.1_Missense_Mutation_p.C452Y|TXNRD1_ENST00000529546.1_Missense_Mutation_p.C345Y|TXNRD1_ENST00000540716.1_Missense_Mutation_p.C345Y	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	533					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TATGGTGCTTGTGGCCTTTCT	0.348000													16	35					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321589	8321589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:8321589C>A	ENST00000558331.1	+	8	913	c.454C>A	c.(454-456)Cgc>Agc	p.R152S	CERS4_ENST00000251363.5_Missense_Mutation_p.R203S|CERS4_ENST00000559450.1_Missense_Mutation_p.R203S|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.R203S			Q9HA82	CERS4_HUMAN	ceramide synthase 4	203	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGATGTCAAGCGCAAGGTGAG	0.572000													3	92					0.115264	0.121175	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248367070	248367070	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:248367070G>A	ENST00000456743.1	+	1	739	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTCGCAAAGCT	0.463000													85	381					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583966	179583966	+	Missense_Mutation	SNP	C	C	T	rs141922757	by1000genomes	TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:179583966C>T	ENST00000589042.1	-	83	24375	c.24151G>A	c.(24151-24153)Gac>Aac	p.D8051N	TTN_ENST00000591111.1_Missense_Mutation_p.D7734N|TTN_ENST00000342992.6_Missense_Mutation_p.D6807N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7734	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCTGTGTCGGAGGGCTCC	0.498000													29	91					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4008954	4008954	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr7:4008954C>T	ENST00000404826.2	+	11	1751	c.1612C>T	c.(1612-1614)Cta>Tta	p.L538L	SDK1_ENST00000389531.3_Silent_p.L538L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	538	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCGGGGGGTCTACAGATCGC	0.542000													8	345					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849929	35849929	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:35849929G>A	ENST00000327809.4	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCAGCGCCGCCCGGTGGCC	0.637000													36	107					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939662	89939662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr5:89939662C>T	ENST00000405460.2	+	14	2692	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	866					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCACGGAGAACGGGAAAGCAA	0.378000													3	24					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645331	19645331	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:19645331C>T	ENST00000457500.2	-	4	1004	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ALDH3A1_ENST00000444455.1_Silent_p.L225L|ALDH3A1_ENST00000494157.2_Silent_p.L152L|ALDH3A1_ENST00000225740.6_Silent_p.L225L|ALDH3A1_ENST00000395555.3_Silent_p.L225L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	225					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGGCCACGTCCAGGTCACAGT	0.607000													11	47					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372552	175372552	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:175372552G>A	ENST00000367674.1	-	4	1408	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	TNR_ENST00000263525.2_Missense_Mutation_p.R234W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	234	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGGCACCGGAGTTCGGAA	0.652000													83	214					0	0	1	0	0
GSX1	219409	broad.mit.edu	37	13	28368023	28368023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr13:28368023G>T	ENST00000302945.2	+	2	781	c.733G>T	c.(733-735)Gaa>Taa	p.E245*		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	245					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GGATGACGACGAATTGCCCAT	0.677000													7	42					1.06961e-07	1.21817e-07	1	1	0
SDK1	221935	broad.mit.edu	37	7	3678652	3678652	+	Silent	SNP	T	T	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr7:3678652T>C	ENST00000404826.2	+	3	614	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L	SDK1_ENST00000389531.3_Silent_p.L159L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	159	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TATTCCATCTTTGCAGAAGCT	0.398000													8	24					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565217	156565217	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:156565217C>T	ENST00000368232.4	-	8	1033	c.901G>A	c.(901-903)Gag>Aag	p.E301K	GPATCH4_ENST00000438976.2_Missense_Mutation_p.E306K	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	301						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCATCTTCTCCTCTTCATGG	0.537000													25	184					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585880	33585880	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:33585880A>G	ENST00000299977.4	+	2	319	c.171A>G	c.(169-171)atA>atG	p.I57M	SLFN5_ENST00000592325.1_Missense_Mutation_p.I57M|SLFN5_ENST00000542451.1_Missense_Mutation_p.I57M	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	57					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGGGGGCATAATCAAGGCTG	0.478000													11	66					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111082290	111082290	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr13:111082290G>A	ENST00000360467.5	+	8	842	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	179					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAAGAGGAGCGCGACAGATAT	0.428000													3	57					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39077728	39077728	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr4:39077728T>C	ENST00000261425.3	+	3	679	c.527T>C	c.(526-528)gTa>gCa	p.V176A	KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000508137.2_Missense_Mutation_p.V35A|KLHL5_ENST00000381930.3_Missense_Mutation_p.V222A|KLHL5_ENST00000359687.2_Missense_Mutation_p.V222A|KLHL5_ENST00000504108.1_Missense_Mutation_p.V222A	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	222						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGTGTGATGTAATTTTAGTC	0.343000													3	52					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507364	26507364	+	Silent	SNP	C	C	T	rs113096800	byFrequency	TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:26507364C>T	ENST00000361530.6	+	3	514	c.369C>T	c.(367-369)gaC>gaT	p.D123D	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Silent_p.D123D			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	123	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAAGCTGACGCCCTCCTCT	0.572000													5	93					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44699003	44699003	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr20:44699003C>T	ENST00000290231.6	-	3	375	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	71	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCTCTGTGATCCCGCAAATCT	0.557000													29	180					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1856654	1856654	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:1856654C>A	ENST00000535046.1	+	3	679	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	SYT8_ENST00000381968.3_Missense_Mutation_p.L89M|SYT8_ENST00000341958.3_Missense_Mutation_p.L75M|SYT8_ENST00000436964.2_Missense_Mutation_p.L75M			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	89						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTCCGTGGGTCTGGGCAGTGC	0.677000													6	9					0.0293803	0.0312882	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42169382	42169382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr15:42169382G>A	ENST00000320955.6	-	18	3870	c.3643C>T	c.(3643-3645)Cga>Tga	p.R1215*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1215					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCACTTCTCGGCCAAACTTC	0.607000													11	46					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376677	52376677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:52376677C>T	ENST00000420592.1	-	6	1722	c.389G>A	c.(388-390)gGt>gAt	p.G130D	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.G130D|ZNF577_ENST00000301399.5_Missense_Mutation_p.G189D|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCCACATTCACCACATCCATG	0.468000													24	77					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200050	62200050	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr20:62200050C>T	ENST00000467148.1	-	5	1460	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CAGGACCAGGCGGGCCTCAGG	0.687000													6	19					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4423358	4423358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:4423358A>G	ENST00000301280.5	+	6	1375	c.1274A>G	c.(1273-1275)aAg>aGg	p.K425R		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	425	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGGAAAAAGGAAGAAGAG	0.483000								Chromatin Structure					3	48					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489325	62489325	+	Silent	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:62489325G>A	ENST00000301785.5	-	8	1641	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	RP11-831H9.16_ENST00000403734.2_Silent_p.V483V	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	483					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGCTCCCAGGACATTGTATC	0.438000													17	256					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66670114	66670114	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:66670114C>T	ENST00000488550.1	+	6	863	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MEIS1_ENST00000444274.2_Silent_p.D156D|MEIS1_ENST00000272369.9_Silent_p.D188D|MEIS1_ENST00000398506.2_Silent_p.D186D|MEIS1_ENST00000407092.2_Silent_p.D188D|MEIS1_ENST00000560281.2_Silent_p.D188D|MEIS1_ENST00000495021.2_Silent_p.D123D			O00470	MEIS1_HUMAN	Meis homeobox 1	188							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TGGTGATAGACGATAGAGAAG	0.378000													33	163					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111650791	111650791	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr6:111650791T>A	ENST00000435970.1	-	27	8767	c.7951A>T	c.(7951-7953)Aat>Tat	p.N2651Y	REV3L_ENST00000368805.1_Missense_Mutation_p.N2729Y|REV3L_ENST00000358835.3_Missense_Mutation_p.N2729Y|REV3L_ENST00000368802.3_Missense_Mutation_p.N2729Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2729					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATGTGACATTTGCTATCAGC	0.398000								DNA polymerases (catalytic subunits)					58	179					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189899	58189899	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:58189899A>G	ENST00000302581.2	-	1	887	c.836T>C	c.(835-837)aTc>aCc	p.I279T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATGGGGATGATCATAGCATA	0.458000													21	57					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395180	131395180	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr9:131395180C>T	ENST00000372739.3	+	56	7364	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	SPTAN1_ENST00000372731.4_Silent_p.F2413F|SPTAN1_ENST00000358161.5_Silent_p.F2418F	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2413	EF-hand 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAGCGCCTTCCGGGCCCTCA	0.542000													34	122					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466134	56466134	+	Missense_Mutation	SNP	G	G	A	rs142225833		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:56466134G>A	ENST00000291971.3	+	3	781	c.710G>A	c.(709-711)cGc>cAc	p.R237H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R237H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	237	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCCACAAGCGCTGGTGTGCT	0.527000													24	71					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256609	7256609	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:7256609C>T	ENST00000333751.3	+	1	1402	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	116					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGCTGAGCTCCGTCCAGGTGG	0.622000													11	118					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942344	6942344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:6942344C>T	ENST00000317834.3	+	1	140	c.112C>T	c.(112-114)Cag>Tag	p.Q38*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGGACTTGCAGACCCAGAT	0.428000													16	63					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671545	45671545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr21:45671545C>T	ENST00000270172.3	-	9	1213	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	DNMT3L_ENST00000418993.1_Missense_Mutation_p.A244T	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	244					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGAGGTGTGGCGCCGTACACA	0.652000													6	58					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78045373	78045373	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr14:78045373C>A	ENST00000216484.2	-	3	600	c.407G>T	c.(406-408)cGg>cTg	p.R136L		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	136						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAGATTGGCCGATTCCAGTT	0.408000													3	66					1	1	1	1	0
HSD17B3	3293	broad.mit.edu	37	9	99006665	99006665	+	Silent	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr9:99006665G>A	ENST00000375263.3	-	9	665	c.618C>T	c.(616-618)tgC>tgT	p.C206C	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.C206C	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	206					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	TGGAAAATGCGCACACAAACG	0.542000													14	70					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562000													3	78					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	196					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202742306	202742306	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:202742306T>A	ENST00000367265.3	-	4	1680	c.516A>T	c.(514-516)agA>agT	p.R172S	KDM5B_ENST00000367264.2_Missense_Mutation_p.R172S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	172	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CATAATGCCCTCTGATATGTG	0.448000													35	94					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332524	153332524	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr4:153332524C>T	ENST00000281708.4	-	2	1661	c.432G>A	c.(430-432)acG>acA	p.T144T	FBXW7_ENST00000603548.1_Silent_p.T144T|FBXW7_ENST00000604872.1_Silent_p.T144T|FBXW7_ENST00000603841.1_Silent_p.T144T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	144			T -> R (in dbSNP:rs7660281).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.T144T(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACTGGAGTTCGTGACACTGT	0.423000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	70					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529866	161529866	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr6:161529866G>A	ENST00000392142.4	+	22	4359	c.4211G>A	c.(4210-4212)cGg>cAg	p.R1404Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1350Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1354Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1400Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1404	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AATCTGGTTCGGTATTTTGGT	0.433000													39	169					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933130	83933130	+	Silent	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr15:83933130A>G	ENST00000345382.2	-	4	958	c.873T>C	c.(871-873)acT>acC	p.T291T	BNC1_ENST00000569704.1_Silent_p.T284T|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	291					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGAACTGGAAGTTAAGAAGC	0.458000													4	66					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074160	216074160	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:216074160G>C	ENST00000366943.2	-	39	7774	c.7388C>G	c.(7387-7389)gCt>gGt	p.A2463G	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.A2463G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2463	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGCCAGGAGCGTTATTACG	0.517000										HNSCC(13;0.011)			16	106					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785491	111785491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr12:111785491C>A	ENST00000261726.6	+	22	3977	c.3823C>A	c.(3823-3825)Ctg>Atg	p.L1275M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGTGAAGGAACTGGAGCTTCA	0.622000													3	57					0.004672	0.00510805	1	1	0
CADM2	253559	broad.mit.edu	37	3	85932502	85932502	+	Silent	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr3:85932502C>A	ENST00000383699.3	+	4	927	c.300C>A	c.(298-300)gtC>gtA	p.V100V	CADM2_ENST00000405615.2_Silent_p.V93V|CADM2_ENST00000407528.2_Silent_p.V91V	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	91	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTATTAGTGTCAGTGATGTGT	0.413000													3	61					0.0215528	0.0232543	1	1	0
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			14	27					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2046716	2046716	+	Silent	SNP	C	C	T	rs141326692		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr8:2046716C>T	ENST00000262113.4	+	19	2484	c.2343C>T	c.(2341-2343)taC>taT	p.Y781Y	MYOM2_ENST00000523438.1_Silent_p.Y206Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	781	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCACTCTACGAGTTCAAAA	0.547000													7	29					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766537	124766537	+	Missense_Mutation	SNP	G	G	A	rs112424754	byFrequency	TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:124766537G>A	ENST00000306534.3	-	3	915	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	144	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACCATGTCCCGAGGCTGGATC	0.612000													6	28					0	0	1	0	0
TMEM9	252839	broad.mit.edu	37	1	201115927	201115927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:201115927C>A	ENST00000367330.1	-	3	724	c.208G>T	c.(208-210)Gag>Tag	p.E70*	TMEM9_ENST00000367334.5_Nonsense_Mutation_p.E70*|TMEM9_ENST00000367329.1_Nonsense_Mutation_p.E70*|TMEM9_ENST00000367333.1_Nonsense_Mutation_p.E73*|TMEM9_ENST00000367332.1_Nonsense_Mutation_p.E73*			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	70					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CAGTAGGCCTCCACGTCATGG	0.622000													5	178					0.217242	0.222673	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81647172	81647172	+	Silent	SNP	T	T	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr12:81647172T>C	ENST00000548058.1	+	14	2716	c.1806T>C	c.(1804-1806)tgT>tgC	p.C602C	ACSS3_ENST00000548324.1_Silent_p.C284C|ACSS3_ENST00000261206.3_Silent_p.C601C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	602						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGCACTCTGTGTATTGAGAA	0.418000													5	271					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	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	70					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323838	79323838	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr15:79323838A>T	ENST00000419573.3	-	8	1440	c.1166T>A	c.(1165-1167)aTc>aAc	p.I389N	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I389N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	389	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGGTCAGGATGTACCTGGG	0.622000													7	33					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879984	39879984	+	Silent	SNP	G	G	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr1:39879984G>T	ENST00000530275.1	+	1	3834	c.3639G>T	c.(3637-3639)gtG>gtT	p.V1213V	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1213										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			CTGACTCAGTGCCTATTTCAG	0.527000													8	32					0.000157383	0.000174398	1	1	0
EDAR	10913	broad.mit.edu	37	2	109546673	109546673	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:109546673G>T	ENST00000409271.1	-	4	520	c.77C>A	c.(76-78)gCg>gAg	p.A26E	EDAR_ENST00000376651.1_Missense_Mutation_p.A26E|EDAR_ENST00000258443.2_Missense_Mutation_p.A26E			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	26					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGAGTATTCCGCTCGGGCTGA	0.587000													3	94					1	1	1	1	0
WDR75	84128	broad.mit.edu	37	2	190335579	190335579	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr2:190335579A>G	ENST00000314761.4	+	18	2084	c.2024A>G	c.(2023-2025)gAa>gGa	p.E675G		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	675						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTCCAGAAGAAAAACTCACA	0.353000													4	27					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118828883	118828883	+	Silent	SNP	C	C	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:118828883C>T	ENST00000264031.2	+	5	530	c.495C>T	c.(493-495)gtC>gtT	p.V165V	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	165					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGCTCTCTGTCGCCATGTTCC	0.607000													24	69					0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48470103	48470103	+	Silent	SNP	G	G	C			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:48470103G>C	ENST00000225972.7	-	3	556	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	107						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TTGTTACCTTGAGCTGAGCAA	0.547000													22	79					0	0	1	0	0
RP3-368B9.2	0	broad.mit.edu	37	4	3634997	3634998	+	RNA	INS	-	-	CCCTC	rs112046897		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr4:3634997_3634998insCCCTC	ENST00000505702.1	+	0	218																											TCCTCCCTGGtccctcccctcc	0.604													2	4	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													5	4	---	---	---	---					
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166		TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgfs	p.CPGP367fs		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657													4	3	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gag>g	p.EQ906del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	906					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													3	6	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:9361740_9361741insT	ENST00000456448.1	+	1	135_136	c.21_22insT	c.(19-24)ctttttfs	p.LF7fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386													3	3	---	---	---	---					
RNF225	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chr19:58907569_58907571delAGG	ENST00000601382.1	+	1	113_115	c.113_115delAGG	c.(112-117)cag>c	p.38del		NM_001195135.1	NP_001182064.1																					GGGGAAGACCaggaggaggagga	0.724													2	4	---	---	---	---					
ZXDB	158586	broad.mit.edu	37	X	57618954	57618954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7284-01B-11D-2238-08	TCGA-55-7284-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	704aee9f-935e-456c-989f-dc4be330c469	1c9f9de0-6a4f-420c-96e4-4db690e463b7	g.chrX:57618954delC	ENST00000374888.1	+	1	686	c.473delC	c.(472-474)gcfs	p.A158fs		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ccgatctccgcccccggcccc	0.746													2	4	---	---	---	---					
