Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	245					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69874117	69874117	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:69874117G>A	ENST00000359154.2	+	5	530	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000542271.1_Silent_p.G27G|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGACGGGCCAACTGTTG	0.592000													4	191					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622000			"""Mis, F, S"""		oligodendroglioma								64	45					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													4	113					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117866545	117866545	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:117866545C>A	ENST00000297338.2	-	9	1387	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	367	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTACTCCTCCTGTCTCTTT	0.368000													82	111					1.75807e-36	1.92289e-36	1	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62857999	62857999	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:62857999G>T	ENST00000253401.6	-	10	2260	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	487					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCGACTGAGCGATGCCGTC	0.552000													12	37					0.000151284	0.000160453	1	1	0
TFR2	7036	broad.mit.edu	37	7	100230653	100230653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100230653G>A	ENST00000462107.1	-	7	1107	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TFR2_ENST00000431692.1_Missense_Mutation_p.R274C|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000544242.1_5'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	274					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCACGCGCACCAGCAGC	0.677000													5	288					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47382321	47382321	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:47382321T>C	ENST00000294947.2	-	1	105	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	C2orf61_ENST00000445927.2_Missense_Mutation_p.I24V|CALM2_ENST00000422269.1_Intron	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	24								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCTGTGATGAATGATTCT	0.607000													15	43					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323466	152323466	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152323466A>C	ENST00000388718.5	-	3	6868	c.6796T>G	c.(6796-6798)Tgg>Ggg	p.W2266G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2266							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAGCCCCATGAGTGCACT	0.522000													5	768					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24205328	24205328	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:24205328C>T	ENST00000378454.3	-	8	1226	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	309					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAAATGCCTTCATCTATTGAG	0.413000													7	290					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383000													82	150					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													4	205					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814286	106814286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:106814286A>G	ENST00000407775.2	+	8	2226	c.1976A>G	c.(1975-1977)aAt>aGt	p.N659S	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	659					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCAGTAACAATGATGACAAA	0.423000													24	38					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65055248	65055248	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:65055248G>A	ENST00000265465.3	+	11	1599	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	POLA2_ENST00000541089.1_Silent_p.T148T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	356					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACAGCATCACGTATGACCCCC	0.507000													55	69					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													4	84					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77078145	77078145	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:77078145G>A	ENST00000579016.1	+	7	1038	c.1038_splice	c.e7+1	p.K346_splice	ENGASE_ENST00000539857.2_Silent_p.K160K|ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	346	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACACAGACAAGGTGGGTGGTG	0.627000													65	98					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110459714	110459714	+	Silent	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr4:110459714A>G	ENST00000265175.5	+	23	3709	c.3654A>G	c.(3652-3654)agA>agG	p.R1218R	SEC24B_ENST00000399100.2_Silent_p.R1183R|SEC24B_ENST00000504968.2_Silent_p.R1248R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1218					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTGGCTTAGAGACAGCAGAC	0.358000													4	198					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013897	127013897	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:127013897T>C	ENST00000393313.1	-	5	2084	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R|ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R			Q2TB10	ZN800_HUMAN	zinc finger protein 800	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAAGTTCTGTTTGGAAGTAAA	0.378000													78	114					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	45073683	45073683	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45073683C>T	ENST00000371460.1	-	5	512	c.195G>A	c.(193-195)gtG>gtA	p.V65V	SUPT3H_ENST00000371459.1_Silent_p.V54V|SUPT3H_ENST00000306867.5_Silent_p.V54V|SUPT3H_ENST00000371461.2_Silent_p.V65V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	136					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGTGTACCACATCTTCTA	0.328000													51	141					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6364830	6364830	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:6364830G>A	ENST00000262483.8	-	18	2440	c.2353C>T	c.(2353-2355)Ccg>Tcg	p.P785S	ACKR6_ENST00000421306.3_Missense_Mutation_p.P749S|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TGCATGTCCGGCCGTCCCGTG	0.607000													5	269					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23656796	23656796	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr22:23656796T>C	ENST00000305877.8	+	22	4372	c.3621T>C	c.(3619-3621)ttT>ttC	p.F1207F	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.F1163F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1207	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCACGGTCTTTGGCCCCACGC	0.607000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								26	47					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21896659	21896659	+	Silent	SNP	T	T	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:21896659T>G	ENST00000379484.5	+	9	1209	c.1110T>G	c.(1108-1110)gtT>gtG	p.V370V		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	370	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAACTCAAGTTTGCAGAACCA	0.318000													5	389					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508016	144508016	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:144508016C>T	ENST00000367568.4	+	2	435	c.252C>T	c.(250-252)cgC>cgT	p.R84R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	84					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647000									Familial Hemophagocytic Lymphohistiocytosis				23	33					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125078688	125078688	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:125078688G>A	ENST00000522917.1	+	27	3781	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1192						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCTTCCCGGAGGTCCACT	0.493000													176	261					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643172	104643172	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:104643172G>A	ENST00000315264.7	+	11	4008	c.3630G>A	c.(3628-3630)aaG>aaA	p.K1210K	KIF26A_ENST00000423312.2_Silent_p.K1349K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1349					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCTCCCAAGGCGGGCTTCC	0.736000													4	7					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500146	90500146	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:90500146G>A	ENST00000325643.5	+	4	810	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.P248P(1)									CACCACAGCCGCATGGTCCCC	0.627000													5	229					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								57	118					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129042647	129042647	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:129042647C>T	ENST00000394422.3	+	4	203	c.173_splice	c.e4-1	p.R59_splice	UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Splice_Site_p.R59_splice|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	59					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TAATTTCAGGCGGAAATTGGC	0.428000													6	758					0	0	1	0	0
PCDHGA7	0	broad.mit.edu	37	5	140762583	140762583	+	Silent	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr5:140762583G>A	ENST00000518325.1	+	1	117	c.117G>A	c.(115-117)acG>acA	p.T39T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGAGACGGACAAAGGGT	0.647000													4	212					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52843396	52843396	+	Missense_Mutation	SNP	G	G	A	rs142625176	by1000genomes	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:52843396G>A	ENST00000252252.3	-	5	981	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	312	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.H312N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTGAGATGTGGGTCTGCATC	0.512000													109	173					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280920	152280920	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152280920C>T	ENST00000368799.1	-	3	6477	c.6442G>A	c.(6442-6444)Gga>Aga	p.G2148R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2148	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGTCTTCCTCCTCTGCTT	0.577000									Ichthyosis				292	855					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48792064	48792064	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:48792064T>C	ENST00000156084.4	-	4	890	c.830A>G	c.(829-831)aAt>aGt	p.N277S	OTUD5_ENST00000376488.3_Missense_Mutation_p.N277S|OTUD5_ENST00000428668.2_Missense_Mutation_p.N60S|OTUD5_ENST00000396743.3_Missense_Mutation_p.N277S|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	277	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCCATGGCAATTGTTTTTCCG	0.473000													5	382					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:17815110G>T	ENST00000325083.8	+	13	2305	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000519253.1_Missense_Mutation_p.E622D	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	622					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.E622D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		aagatgatgaggaggaggagg	0.418000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								3	22					0.115264	0.116934	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:102964544T>C	ENST00000233954.1	+	9	1381	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383000													5	105					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905161	234905161	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:234905161G>C	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8							integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTGTCTGCTGTGAGTGGTTT	0.453000													39	91					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48034064	48034064	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:48034064C>T	ENST00000453192.2	-	9	916	c.673G>A	c.(673-675)Gga>Aga	p.G225R	SUN3_ENST00000412142.1_Missense_Mutation_p.G137R|SUN3_ENST00000297325.4_Missense_Mutation_p.G237R|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	237	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCACTTTCCAGGGTAGACA	0.438000													19	201					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916929	178916929	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:178916929G>A	ENST00000263967.3	+	2	473	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106	PI3K-ABD.		G -> V (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAACCAGTAGGCAACCGTGA	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			82	122					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACGGTGACCGCAACGTAGAA	0.602000													5	283					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744337	744337	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr20:744337G>A	ENST00000381944.3	-	3	1119	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.A293V			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	293					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GCAGCAGGGGGCTGCTTTCTC	0.647000													37	81					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22231075	22231075	+	Splice_Site	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:22231075G>T	ENST00000379374.4	+	16	2265	c.1700_splice	c.e16+1	p.R567_splice	PHEX_ENST00000535894.1_Splice_Site_p.R470_splice|PHEX_ENST00000418858.3_Splice_Site_p.R270_splice|PHEX_ENST00000537599.1_Splice_Site_p.R567_splice	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	567			R -> P (in HYP; sporadic).		biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAATATCCTCGGTGAGTAAAT	0.388000													4	295					0.150653	0.150653	1	1	0
WASH4P	0	broad.mit.edu	37	16	66954	66954	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:66954G>A	ENST00000326592.9	-	5	1340	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S																								ATGGACAAGGGGGCATCAAAC	0.582000													15	40					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13978772	13978772	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:13978772C>T	ENST00000343495.5	-	6	1019	c.281G>A	c.(280-282)aGc>aAc	p.S94N	ETV1_ENST00000405358.4_Missense_Mutation_p.S126N|ETV1_ENST00000403527.1_Missense_Mutation_p.S72N|ETV1_ENST00000405192.2_Missense_Mutation_p.S112N|ETV1_ENST00000405218.2_Missense_Mutation_p.S112N|ETV1_ENST00000420159.2_Missense_Mutation_p.S54N|ETV1_ENST00000403685.1_Missense_Mutation_p.S94N|ETV1_ENST00000242066.5_Missense_Mutation_p.S94N|ETV1_ENST00000430479.1_Missense_Mutation_p.S112N|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.S72N			P50549	ETV1_HUMAN	ets variant 1	112					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCATAGCTGAATTTAAA	0.418000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	262					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944704	55944704	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:55944704G>A	ENST00000312298.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468000													16	237					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													5	193					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38794044	38794044	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:38794044T>A	ENST00000359357.3	+	27	3563	c.3309T>A	c.(3307-3309)aaT>aaA	p.N1103K	DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K|DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATTTATTAATGAATACTTGA	0.348000													60	116					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31847952	31847952	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:31847952G>A	ENST00000395728.3	-	27	3712	c.3713C>T	c.(3712-3714)gCc>gTc	p.A1238V	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1181V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1181					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGCAATGGCTTCGGCTGA	0.592000													40	68					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094325	27094325	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:27094325G>T	ENST00000324856.7	+	11	3404	c.3033G>T	c.(3031-3033)ttG>ttT	p.L1011F	ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F|ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACCAAGTTGTATGAGCTGG	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	93					0.014758	0.015192	1	1	0
TNC	3371	broad.mit.edu	37	9	117826999	117826999	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:117826999C>T	ENST00000350763.4	-	11	3825	c.3414G>A	c.(3412-3414)acG>acA	p.T1138T	TNC_ENST00000423613.2_Silent_p.T1138T|TNC_ENST00000341037.4_Silent_p.T1138T|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1138	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGTATAAGGCGTAGCAGCCT	0.552000													5	370					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996229	40996229	+	Silent	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:40996229C>T	ENST00000244565.3	-	9	1528	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Silent_p.R480R	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	480	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCAGTCTAGCCGCTCCATGA	0.682000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	127					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515348	51515348	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:51515348A>G	ENST00000328188.1	+	1	67	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AAAGATGCAGAAAATCATATT	0.408000													5	247					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420721	49420721	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:49420721C>T	ENST00000301067.7	-	48	15027	c.15028G>A	c.(15028-15030)Gca>Aca	p.A5010T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATAAACTCTGCCACTTCCCGC	0.607000													48	91					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTGGGGGCCCGGCAGCAGCGA	0.657000													9	183					0	0	1	0	0
PBX2P1	0	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													8	6	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	7	---	---	---	---					
RP11-399D6.2	0	broad.mit.edu	37	9	22823496	22823497	+	RNA	INS	-	-	C	rs146924324	by1000genomes	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:22823496_22823497insC	ENST00000436786.1	+	0	1631_1632					NR_038977.1																						acttgggttttctgttgagatg	0.520													5	4	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)del	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.660													11	11	---	---	---	---					
IGHJ6	0	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs2338628		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17																											AGACGTCCATGTAGTAGTAGTAG	0.537													7	217	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57565278	57565280	+	In_Frame_Del	DEL	AGA	AGA	-	rs78462051		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:57565278_57565280delAGA	ENST00000267811.5	+	18	2028_2030	c.1724_1726delAGA	c.(1723-1728)gag>g	p.EK575del	TCF12_ENST00000452095.2_In_Frame_Del_p.EK595del|TCF12_ENST00000543579.1_In_Frame_Del_p.EK429del|TCF12_ENST00000333725.5_In_Frame_Del_p.EK599del|TCF12_ENST00000557843.1_In_Frame_Del_p.EK575del|TCF12_ENST00000343827.3_In_Frame_Del_p.EK405del|TCF12_ENST00000438423.2_In_Frame_Del_p.EK599del|TCF12_ENST00000559710.1_In_Frame_Del_p.EK209del|TCF12_ENST00000559703.1_In_Frame_Del_p.EK232del|TCF12_ENST00000537840.1_In_Frame_Del_p.EK339del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	575					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATAGAAAGGGAGAAGGAGAGGCG	0.414			T	TEC	extraskeletal myxoid chondrosarcoma								14	35	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73615044	73615064	+	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	CCCACTGCCCCCGCTGCCACC	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENST00000261917.3	-	8	4363_4383	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	c.(3370-3390)del	p.GGSGGSG1124del		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1124					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTG	0.710													6	4	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													7	708	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													8	6	---	---	---	---					
CCDC144B	0	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													3	4	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)cca>c	p.LP13del	GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631													2	4	---	---	---	---