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
MST1P9	11223	broad.mit.edu	37	1	17084454	17084454	+	Silent	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:17084454G>C	uc010ock.2	-	11	1644	c.1644C>G	c.(1642-1644)gtC>gtG	p.V548V	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.V148V					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCTTGAGCAGGACAAGCTGGG	0.592												
DNAJB4	11080	broad.mit.edu	37	1	78470832	78470832	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:78470832A>G	uc001dij.3	+	0	197	c.38A>G	c.(37-39)aAa>aGa	p.K13R	DNAJB4_uc010orn.2_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	13	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAATTGAGAAAGGAGCTTCA	0.368												
ODF2L	57489	broad.mit.edu	37	1	86822223	86822223	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:86822223C>T	uc001dll.2	-	13	1784	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Silent_p.A445A	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	474						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547												
ZNF644	84146	broad.mit.edu	37	1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:91403294_91403296delCTT	uc001dnw.3	-	3	3717_3719	c.3434_3436delAAG	c.(3433-3438)gaaggg>ggg	p.E1145del	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1144K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAATTCAGCCCTTCTTCTTCTGA	0.365												
TMED5	50999	broad.mit.edu	37	1	93620253	93620256	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:93620253_93620256delCAAA	uc001dpn.3	-	3	1108_1111	c.661_664delTTTG	c.(661-666)tttgaafs	p.F221fs	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_3'UTR	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	221					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTCTTATCTTCAAACAGACTCTTC	0.348												
SSR2	6746	broad.mit.edu	37	1	155989853	155989853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:155989853C>A	uc001fmx.3	-	1	186	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SSR2_uc010pgw.2_Nonsense_Mutation_p.E55*	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	36					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCGTCCCTCCACGGCGTAT	0.483												
OR6K2	81448	broad.mit.edu	37	1	158670186	158670186	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:158670186A>G	uc001fsu.1	-	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTCTCACTAAGCAGGCTAGA	0.458												
NDUFS2	4720	broad.mit.edu	37	1	161182256	161182256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:161182256C>T	uc001fyv.3	+	10	1550	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	NDUFS2_uc001fyw.3_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.R317*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	368					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCCACCTAAGCGAGCAGAGAT	0.527												
NOS1AP	9722	broad.mit.edu	37	1	162257211	162257213	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:162257211_162257213delGAA	uc001gbv.2	+	2	642_644	c.255_257delGAA	c.(253-258)ctgaag>ctg	p.K90del	NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	90	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGAAA	0.433												
TNNT2	7139	broad.mit.edu	37	1	201331099	201331101	+	In_Frame_Del	DEL	TCT	TCT	-	rs121964859		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:201331099_201331101delTCT	uc001gwf.3	-	12	719_721	c.650_652delAGA	c.(649-654)aagatt>att	p.K217del	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_In_Frame_Del_p.K210del|TNNT2_uc001gwg.3_In_Frame_Del_p.K207del|TNNT2_uc001gwh.3_In_Frame_Del_p.K198del|TNNT2_uc001gwi.3_In_Frame_Del_p.K177del|TNNT2_uc009wzr.3_In_Frame_Del_p.K148del	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	220					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCAGCCAGAATCTTCTTCTTCTT	0.576											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JMJD1C	221037	broad.mit.edu	37	10	64960280	64960282	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:64960280_64960282delTTC	uc001jmn.3	-	10	5530_5532	c.5230_5232delGAA	c.(5230-5232)gaadel	p.E1744del	JMJD1C_uc001jml.3_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.3_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.3_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1744					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTGAGCTGGTTCTTCTCCTTTT	0.350												
CYP2E1	1571	broad.mit.edu	37	10	135351261	135351261	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:135351261G>C	uc001lnj.1	+	7	1195	c.1162G>C	c.(1162-1164)Gtc>Ctc	p.V388L	CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	388					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CTAGGGCACAGTCGTAGTGCC	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of			
MUC5B	727897	broad.mit.edu	37	11	1257593	1257593	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:1257593G>A	uc001lta.3	+						MUC5B_uc009yct.2_Intron	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCGGCTTCCGGCAGCGTCTG	0.677												
CHRNA10	57053	broad.mit.edu	37	11	3687783	3687783	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:3687783T>C	uc001lyf.3	-	4	979	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	CHRNA10_uc010qxt.2_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.2_Missense_Mutation_p.M97V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	303					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ATAGTGGCCATGTAGTACTTC	0.507												
CNGA4	1262	broad.mit.edu	37	11	6261617	6261617	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:6261617G>A	uc001mco.3	+	3	708	c.593G>A	c.(592-594)cGt>cAt	p.R198H	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R158H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	198					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTCGGGCGTGACGCATGG	0.547												
OR10A6	390093	broad.mit.edu	37	11	7950020	7950020	+	Silent	SNP	G	G	A	rs141585665		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:7950020G>A	uc010rbh.2	-	0	190	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATAAGTTCAGGAGAAACAGG	0.443												
SYT13	57586	broad.mit.edu	37	11	45268002	45268002	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:45268002C>T	uc001myq.2	-	4	1034	c.908G>A	c.(907-909)cGc>cAc	p.R303H	SYT13_uc009yku.1_Missense_Mutation_p.R159H	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	303	C2 2.					transport vesicle		p.N302N(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACCAGGAGGCGGTTGGCAGC	0.572												
PSMC3	5702	broad.mit.edu	37	11	47446172	47446173	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:47446172_47446173delTT	uc001nfh.2	-	3	569_570	c.375_376delAA	c.(373-378)aaaaccfs	p.K125fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.K125N(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGTAGAGGTTTTGATCACAG	0.545												
SSRP1	6749	broad.mit.edu	37	11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-	rs142261788		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:57093935_57093937delTTC	uc001njt.3	-	16	2341_2343	c.2074_2076delGAA	c.(2074-2076)gaadel	p.E692del	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TACTGGCTAGTTCTTCTTCTTCA	0.552												
ODZ4	26011	broad.mit.edu	37	11	78440577	78440577	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:78440577T>C	uc001ozl.4	-	21	3713	c.3250A>G	c.(3250-3252)Atc>Gtc	p.I1084V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1084					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGAAGGGGATGGTCGGGTGG	0.567												
TMEM126B	55863	broad.mit.edu	37	11	85342819	85342819	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:85342819T>C	uc001pap.3	+	1	200	c.170T>C	c.(169-171)aTa>aCa	p.I57T	TMEM126B_uc001pan.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.2_Missense_Mutation_p.I57T|TMEM126B_uc001pao.3_Missense_Mutation_p.I27T|TMEM126B_uc021qog.1_Missense_Mutation_p.I37T|TMEM126B_uc021qoh.1_Intron	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	Homo sapiens transmembrane protein 126B (TMEM126B), transcript variant 1, mRNA.	57						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAGAAATCATAGAAAAAAAT	0.353												
FOLH1B	219595	broad.mit.edu	37	11	89424051	89424054	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:89424051_89424054delAAAC	uc001pda.3	+	10	1227_1230	c.701_704delAAAC	c.(700-705)gaaacafs	p.E234fs		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	234					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.T235I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGTAGGAAACAAACAAATTC	0.319												
ARHGAP32	9743	broad.mit.edu	37	11	128840825	128840825	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:128840825G>C	uc009zcp.3	-	21	4241	c.4241C>G	c.(4240-4242)cCc>cGc	p.P1414R	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1065R	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1414	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGTGGGGGGCAGTGGTGC	0.592												
KIAA1467	57613	broad.mit.edu	37	12	13208755	13208755	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:13208755G>A	uc001rbi.3	+	1	331	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	103						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCATATGTGCGCACGTCTGTC	0.587												
HIST4H4	121504	broad.mit.edu	37	12	14923761	14923761	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:14923761A>G	uc001rcf.4	-	0	305	c.258T>C	c.(256-258)gaT>gaC	p.D86D	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	86					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGTACACCACATCCATGGCCG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARID2	196528	broad.mit.edu	37	12	46245922	46245923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:46245922_46245923delAG	uc001ros.1	+	14	4016_4017	c.4016_4017delAG	c.(4015-4017)cagfs	p.Q1339fs	ARID2_uc001ror.3_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1339					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGGGAAACAGAACTCAGAAC	0.371			"""N, S, F"""		hepatocellular carcinoma							
FREM2	341640	broad.mit.edu	37	13	39425866	39425866	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:39425866A>G	uc001uwv.3	+	10	7095	c.6786A>G	c.(6784-6786)gaA>gaG	p.E2262E	FREM2_uc001uww.3_Silent_p.E348E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2262	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCACTGAACCCAAAGAAC	0.398												
AKAP11	11215	broad.mit.edu	37	13	42877884	42877884	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:42877884A>G	uc001uys.2	+	7	5177	c.5002A>G	c.(5002-5004)Agt>Ggt	p.S1668G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1668					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGCTGAGCAGTACCAGCCT	0.507												
RCBTB2	1102	broad.mit.edu	37	13	49089796	49089796	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:49089796G>C	uc010tgg.2	-	3	430	c.139C>G	c.(139-141)Cta>Gta	p.L47V	RCBTB2_uc001vci.3_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.2_5'UTR|RCBTB2_uc001vch.3_Missense_Mutation_p.L42V|RCBTB2_uc001vcj.3_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	42							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATTAACTGTAGTTCTTCTTCA	0.363												
CTAGE10P	220429	broad.mit.edu	37	13	50465740	50465740	+	Silent	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:50465740T>C	uc001vdk.2	+	0	1196	c.1014T>C	c.(1012-1014)atT>atC	p.I338I						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AAATCTATATTCAGTTATCTG	0.333												
RNASE4	6038	broad.mit.edu	37	14	21167918	21167918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:21167918C>T	uc021rol.1	+	0	388	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RNASE4_uc001vxy.4_Missense_Mutation_p.R130C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R130C	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	130					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GAGCACTAGACGTGTTGTCAT	0.527												
GMPR2	51292	broad.mit.edu	37	14	24707579	24707581	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:24707579_24707581delGAA	uc001wnr.3	+	8	1207_1209	c.825_827delGAA	c.(823-828)atgaag>atg	p.K277del	GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wns.3_In_Frame_Del_p.K277del|GMPR2_uc001wnv.3_In_Frame_Del_p.K114del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc001wnw.3_In_Frame_Del_p.K277del|GMPR2_uc001wnx.3_In_Frame_Del_p.K295del|GMPR2_uc010all.3_In_Frame_Del_p.K249del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	277					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AAATGGCCATGAAGAAGTATGCT	0.537												
DUOX2	50506	broad.mit.edu	37	15	45401132	45401132	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:45401132C>T	uc001zun.3	-	11	1456	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	DUOX2_uc010bea.3_Missense_Mutation_p.G418D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	418	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAGAATTTGCCAGGGCCAGG	0.552												
ALDH1A2	8854	broad.mit.edu	37	15	58256142	58256142	+	Missense_Mutation	SNP	G	G	A	rs137957671		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:58256142G>A	uc002aex.3	-	8	1300	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R322W|ALDH1A2_uc002aey.3_Missense_Mutation_p.R305W|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.3_Missense_Mutation_p.R247W	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	343					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTCTTGGCCCGCTCCACGCTT	0.527												
SCAPER	49855	broad.mit.edu	37	15	77059334	77059336	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:77059334_77059336delTTC	uc002bby.3	-	9	1401_1403	c.1342_1344delGAA	c.(1342-1344)gaadel	p.E448del	SCAPER_uc002bbx.3_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	447	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAGTTAACTGTTCTTCTTCAGCA	0.355												
SLC28A1	9154	broad.mit.edu	37	15	85476431	85476431	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:85476431C>T	uc002blg.3	+	12	1341	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A380V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	380					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTGCCTTGGCCCTCTCCAAG	0.562												
MVP	9961	broad.mit.edu	37	16	29855969	29855969	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:29855969G>A	uc002dui.3	+	10	1942	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R597H|MVP_uc010vea.2_Missense_Mutation_p.R191H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	597					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACTCAGCCCGCATCATTCGC	0.617												
MT1A	4489	broad.mit.edu	37	16	56673190	56673190	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56673190T>C	uc002ejq.3	+	1	116	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	MT1A_uc002eji.3_Intron	NM_005946	NP_005937	P04731	MT1A_HUMAN	Homo sapiens metallothionein 1A (MT1A), mRNA.	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						CTCCTGCACCTGCACTGGCTC	0.512												
SLC12A3	6559	broad.mit.edu	37	16	56901059	56901059	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56901059C>T	uc002ekd.4	+	1	389	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_uc010ccm.3_Silent_p.G120G|SLC12A3_uc010ccn.3_Silent_p.G119G	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	120					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGTGGAGGGCGAGGCAGGCA	0.652												
CNOT1	23019	broad.mit.edu	37	16	58562381	58562385	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:58562381_58562385delTTAGA	uc002env.3	-	43	6740_6744	c.6447_6451delTCTAA	c.(6445-6453)aatctaaagfs	p.N2149fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.3_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.2_Frame_Shift_Del_p.N1106fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2149					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCTTACCTTTAGATTAGGAGTGA	0.400												
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH4	4622	broad.mit.edu	37	17	10350506	10350506	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10350506T>A	uc002gmn.3	-	34	5104	c.4993A>T	c.(4993-4995)Atc>Ttc	p.I1665F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1665					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCTCTGATGGCATCATCC	0.468												
MYH1	4619	broad.mit.edu	37	17	10395868	10395868	+	Silent	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10395868G>T	uc002gmo.3	-	39	5779	c.5685C>A	c.(5683-5685)gtC>gtA	p.V1895V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1895						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGGTTGACGTTGGATT	0.473												
DNAH9	1770	broad.mit.edu	37	17	11757746	11757749	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:11757746_11757749delGTGA	uc002gne.3	+	50	10001	c.9933_splice	c.e50+1	p.A3311_splice	DNAH9_uc010coo.3_Splice_Site_p.A2605_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3311	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGATCGCTGTGAGTGACCCCAG	0.544												
FAM83G	644815	broad.mit.edu	37	17	18906958	18906958	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:18906958G>A	uc002guw.3	-	1	564	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	133										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCAGCCCAGGTCCAGCTGC	0.701												
ACACA	31	broad.mit.edu	37	17	35564699	35564701	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:35564699_35564701delGGA	uc002hnm.3	-	30	3801_3803	c.3610_3612delTCC	c.(3610-3612)tccdel	p.S1204del	ACACA_uc002hnk.3_In_Frame_Del_p.S1126del|ACACA_uc002hnl.3_In_Frame_Del_p.S1146del|ACACA_uc002hnn.3_In_Frame_Del_p.S1204del|ACACA_uc002hno.3_In_Frame_Del_p.S1241del|ACACA_uc010cuy.3_5'Flank	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1204					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTGAGGTTGGAGGAGAAGGAC	0.473												
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677												
SGSH	6448	broad.mit.edu	37	17	78185892	78185892	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:78185892G>A	uc002jxz.4	-	6	1014	c.927C>T	c.(925-927)agC>agT	p.S309S	SGSH_uc002jya.4_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	309					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGGCCTCGCTGACTTGGC	0.617												
SETBP1	26040	broad.mit.edu	37	18	42533090	42533090	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:42533090G>C	uc010dni.3	+	3	4081	c.3785G>C	c.(3784-3786)aGa>aCa	p.R1262T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1262						nucleus	DNA binding	p.R1208K(1)|p.A1262A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome			
MYO5B	4645	broad.mit.edu	37	18	47479673	47479674	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:47479673_47479674delTC	uc002leb.2	-	13	1996_1997	c.1708_1709delGA	c.(1708-1710)gacfs	p.D570fs	MYO5B_uc021ukb.1_Frame_Shift_Del_p.D569fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	570	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATACACCGTGTCTCTGTTTTTC	0.520												
ZNF407	55628	broad.mit.edu	37	18	72343319	72343319	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:72343319C>A	uc002llw.2	+	0	397	c.344C>A	c.(343-345)aCc>aAc	p.T115N	ZNF407_uc010xfc.2_Missense_Mutation_p.T115N|ZNF407_uc010dqu.2_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAAGGAGACCTTTCTGAGT	0.443												
ELANE	1991	broad.mit.edu	37	19	855979	855979	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:855979G>A	uc002lqb.3	+	4	657	c.619G>A	c.(619-621)Gtc>Atc	p.V207I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	207	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGCCCCTTGGTCTGCAACGG	0.657												
TMIGD2	126259	broad.mit.edu	37	19	4298041	4298042	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:4298041_4298042delTA	uc002lzx.2	-	1	393_394	c.347_348delTA	c.(346-348)gtafs	p.V116fs	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.V116fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	116	Ig-like.					integral to membrane		p.A115A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATCTCTACGGCCGCCCA	0.653												
TRIP10	9322	broad.mit.edu	37	19	6751206	6751206	+	Missense_Mutation	SNP	G	G	A	rs139028261		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:6751206G>A	uc002mfs.3	+	14	1856	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	TRIP10_uc010dux.2_Missense_Mutation_p.E551K|TRIP10_uc002mfr.3_Missense_Mutation_p.R541Q|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCCTACCTCCGAGTCACGCTC	0.612												
C19orf43	79002	broad.mit.edu	37	19	12841881	12841881	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:12841881A>G	uc002muu.3	-	3	482	c.424_splice	c.e3-1	p.V142_splice		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.	142										endometrium(2)|large_intestine(2)	4						ACTTGTTAATACCTGTGGAAA	0.547												
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:15807863C>T	uc002nbl.3	+	12	1662	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567												
USP29	57663	broad.mit.edu	37	19	57641232	57641232	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:57641232A>G	uc002qny.3	+	3	1545	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	USP29_uc021vci.1_Missense_Mutation_p.T397A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	397					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTTGAATACTGGGAAAGA	0.383												
KIDINS220	57498	broad.mit.edu	37	2	8872006	8872006	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:8872006T>C	uc002qzc.2	-	29	4342	c.4160A>G	c.(4159-4161)tAt>tGt	p.Y1387C	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1387					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTATTCTCTATAGGCATCTCT	0.463												
DPYSL5	56896	broad.mit.edu	37	2	27165614	27165616	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27165614_27165616delAGA	uc002rhu.4	+	10	1594_1596	c.1436_1438delAGA	c.(1435-1440)gagaag>gag	p.K480del	DPYSL5_uc002rhv.4_In_Frame_Del_p.K480del|DPYSL5_uc021vev.1_In_Frame_Del_p.K480del	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	480					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGAGAGAGAAGGTGAGGTG	0.557											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM214	54867	broad.mit.edu	37	2	27258019	27258019	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27258019T>A	uc002ria.4	+	2	478	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	TMEM214_uc002rib.4_Missense_Mutation_p.L123Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	123						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCAGACCTGCAGAAGGAA	0.537												
FAM176A	84141	broad.mit.edu	37	2	75745200	75745200	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:75745200C>A	uc002sni.2	-	2	545	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	23	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						AAGGAATAGGCCGCTAGGATG	0.612												
SEPT10	151011	broad.mit.edu	37	2	110350668	110350668	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:110350668G>C	uc002tey.3	-	1	438	c.59C>G	c.(58-60)aCa>aGa	p.T20R	SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tew.3_Missense_Mutation_p.T20R|SEPT10_uc002tex.3_Intron|SEPT10_uc010ywv.2_5'UTR	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	20					cell cycle|cell division	septin complex	GTP binding	p.T19T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATACAAGTTGTTTTCGTTGC	0.323												
NEB	4703	broad.mit.edu	37	2	152518698	152518698	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:152518698T>C	uc021vrb.1	-	43	5950	c.5921A>G	c.(5920-5922)gAc>gGc	p.D1974G	NEB_uc002txu.3_Missense_Mutation_p.D1974G|NEB_uc021vrc.1_Missense_Mutation_p.D1974G|NEB_uc010fnx.3_Missense_Mutation_p.D1974G|NEB_uc021vrd.1_Missense_Mutation_p.D1974G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1974					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCATCGAGTCCATGAGTGT	0.413												
CERS6	253782	broad.mit.edu	37	2	169404150	169404150	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:169404150A>G	uc002uec.1	+	1	339	c.215A>G	c.(214-216)aAt>aGt	p.N72S	CERS6_uc002ueb.1_Missense_Mutation_p.N72S	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	72						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ATTCAGGCCAATGGACCACAA	0.413												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma							
ZNF142	7701	broad.mit.edu	37	2	219521105	219521105	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:219521105C>T	uc002vin.3	-	3	484	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCATCCATCTCCCCGGTGC	0.582												
MYH7B	57644	broad.mit.edu	37	20	33572918	33572918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:33572918C>T	uc002xbi.2	+	12	1234	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGCATCCGCGGATATTGAC	0.642												
PTPRT	11122	broad.mit.edu	37	20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:40911144G>A	uc002xkg.3	-	12	2345	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	PTPRT_uc010ggj.3_Missense_Mutation_p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	721	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R721H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGCCAGACGAACACAGTTG	0.348												
KCNE1	3753	broad.mit.edu	37	21	35821746	35821746	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:35821746G>T	uc021wit.1	-	0	187	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KCNE1_uc010gmp.3_Missense_Mutation_p.L63M|KCNE1_uc002ytz.3_Missense_Mutation_p.L63M|KCNE1_uc010gmq.3_Missense_Mutation_p.L63M|KCNE1_uc010gmr.3_Missense_Mutation_p.L63M|KCNE1_uc010gms.3_Missense_Mutation_p.L63M|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	63					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGTAGCTCAGCATGATGCCC	0.592												
KRTAP10-2	386679	broad.mit.edu	37	21	45971183	45971183	+	Silent	SNP	C	C	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:45971183C>G	uc002zfi.1	-	0	206	c.159G>C	c.(157-159)gtG>gtC	p.V53V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	53	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGGGCTGGACACACAGCTCA	0.697												
OSBP2	23762	broad.mit.edu	37	22	31137202	31137202	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:31137202G>A	uc003aiy.1	+	1	803	c.699G>A	c.(697-699)gcG>gcA	p.A233A	OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	233	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCACCGCGCACATTGACA	0.557												
TMPRSS6	164656	broad.mit.edu	37	22	37492125	37492125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37492125delC	uc003aqt.1	-	4	472	c.410delG	c.(409-411)ggafs	p.G137fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.G146fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.G137fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	146					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTGAGGGGTCCCTCCCTAAG	0.622												
CYTH4	27128	broad.mit.edu	37	22	37707507	37707507	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37707507C>T	uc003arf.3	+	10	1012	c.896C>T	c.(895-897)cCa>cTa	p.P299L	CYTH4_uc011amw.2_Missense_Mutation_p.P242L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	299	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACAAGGAGCCACGGGGAATT	0.582												
DDX17	10521	broad.mit.edu	37	22	38890068	38890069	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:38890068_38890069delTT	uc003avy.4	-	8	1385_1386	c.1282_1283delAA	c.(1282-1284)aagfs	p.K428fs	DDX17_uc003avx.4_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.2_Frame_Shift_Del_p.K341fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	349	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACAGCGTCTCTTTGTCTCCACA	0.386												
MCHR1	2847	broad.mit.edu	37	22	41077826	41077826	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:41077826G>A	uc003ayz.3	+	1	1431	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MCHR1_uc003aza.3_Missense_Mutation_p.R277H|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	388					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGACGTTCCGCAAACGCTTG	0.572												
NUP210	23225	broad.mit.edu	37	3	13432743	13432743	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:13432743C>T	uc003bxv.1	-	3	584	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	167					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAACCTGTCCGCCTCGGAGT	0.582												
MRPS25	64432	broad.mit.edu	37	3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:15094113_15094115delCTC	uc003bzl.3	-	3	470_472	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_uc011avl.2_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586												
NICN1	84276	broad.mit.edu	37	3	49463788	49463788	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:49463788T>G	uc003cwz.1	-	1	291	c.206A>C	c.(205-207)cAc>cCc	p.H69P	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.H69P	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	69						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGTGTGTGTGCTGAGGT	0.498												
TMEM115	11070	broad.mit.edu	37	3	50396188	50396190	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:50396188_50396190delAGA	uc003dan.1	-	0	750_752	c.305_307delTCT	c.(304-309)ttctca>tca	p.F102del	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	102					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCACCACTGAGAAGAAGATGAG	0.601												
C3orf17	25871	broad.mit.edu	37	3	112724550	112724550	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:112724550T>C	uc003dzr.3	-	8	1598	c.1537A>G	c.(1537-1539)Atg>Gtg	p.M513V	C3orf17_uc011bia.2_Missense_Mutation_p.M310V|C3orf17_uc003dzu.3_Missense_Mutation_p.M442V|C3orf17_uc011bib.2_Missense_Mutation_p.M402V|C3orf17_uc011bic.2_Missense_Mutation_p.M346V|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.3_Missense_Mutation_p.M416V|C3orf17_uc003dzs.3_Missense_Mutation_p.M377V|C3orf17_uc010hqg.3_Missense_Mutation_p.M338V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	513						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGACAGGCATTGAAACTCCA	0.388												
CCDC37	348807	broad.mit.edu	37	3	126138549	126138549	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:126138549G>A	uc010hsg.1	+	7	863	c.804G>A	c.(802-804)tcG>tcA	p.S268S	CCDC37_uc003eiu.1_Silent_p.S267S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	267										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAAGCTGTCGCCCAAGGAGT	0.488												
CP	1356	broad.mit.edu	37	3	148903188	148903188	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:148903188C>T	uc003ewy.4	-	11	2376	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G489D|CP_uc003ewz.3_Missense_Mutation_p.G708D	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	708	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G708S(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCTTCATGCCGCCTGTGTA	0.468												
VEPH1	79674	broad.mit.edu	37	3	157213090	157213090	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:157213090C>A	uc003fbj.2	-	1	468	c.49G>T	c.(49-51)Gct>Tct	p.A17S	VEPH1_uc003fbk.2_Missense_Mutation_p.A17S|VEPH1_uc010hvu.2_Missense_Mutation_p.A17S|VEPH1_uc021xgk.1_Missense_Mutation_p.A17S|VEPH1_uc003fbn.3_Missense_Mutation_p.A17S|VEPH1_uc003fbm.3_Missense_Mutation_p.A17S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	17						plasma membrane		p.A17G(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGTCCCCAGCTCGTGAAAGA	0.413												
TP63	8626	broad.mit.edu	37	3	189607256	189607256	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:189607256A>G	uc003fry.2	+	11	1724	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T366T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	545	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGTATCCCACAGATTGCAGCA	0.597										HNSCC(45;0.13)		
LGI2	55203	broad.mit.edu	37	4	25019723	25019723	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:25019723C>A	uc003grf.2	-	5	642	c.543G>T	c.(541-543)tgG>tgT	p.W181C		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	181	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATCTTCAACCACAGGTATA	0.373												
UGT2A3	79799	broad.mit.edu	37	4	69798344	69798344	+	Splice_Site	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:69798344A>G	uc003hef.2	-	3	1027	c.996_splice	c.e3+1	p.K332_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	332						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTACTGACCTTCTGTGG	0.398												
USP53	54532	broad.mit.edu	37	4	120213685	120213686	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:120213685_120213686delCT	uc003ics.4	+	17	3607_3608	c.2541_2542delCT	c.(2539-2544)aactctfs	p.N847fs	USP53_uc003icr.4_Frame_Shift_Del_p.N847fs|USP53_uc003icu.4_Frame_Shift_Del_p.N470fs	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	847					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGTTGATAACTCTGCTTCTGG	0.391												
PCDH18	54510	broad.mit.edu	37	4	138442804	138442804	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:138442804G>T	uc003ihe.4	-	3	3174	c.2787C>A	c.(2785-2787)gaC>gaA	p.D929E	PCDH18_uc003ihf.4_Missense_Mutation_p.D921E|PCDH18_uc011cgz.2_Missense_Mutation_p.D140E|PCDH18_uc003ihg.4_Missense_Mutation_p.D708E|PCDH18_uc011cha.2_Missense_Mutation_p.D109E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	929	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D929V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTGGTCAGAGTGTC	0.498												
SPOCK3	50859	broad.mit.edu	37	4	167921580	167921580	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:167921580C>T	uc011cjq.1	-	2	363	c.306G>A	c.(304-306)atG>atA	p.M102I	SPOCK3_uc021xuf.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M90I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	93					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTACATTTCATCTTTAAGC	0.348												
MFAP3L	9848	broad.mit.edu	37	4	170926952	170926952	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:170926952G>A	uc003isp.4	-	1	255	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MFAP3L_uc003isn.4_5'Flank	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTAGCGGTGGCTAGAGTGGA	0.458												
TLR3	7098	broad.mit.edu	37	4	187003773	187003773	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:187003773G>A	uc003iyq.3	+	3	1034	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TLR3_uc011ckz.2_Silent_p.Q34Q|TLR3_uc003iyr.3_Silent_p.Q34Q	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	311					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATAATATACAGCATTTGTTTT	0.383												
SPEF2	79925	broad.mit.edu	37	5	35771803	35771804	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:35771803_35771804insA	uc003jjo.3	+	26	4005_4006	c.3894_3895insA	c.(3892-3897)aataaafs	p.N1298fs	SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1298					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGCAAATAAAAAAGTCAA	0.426												
PIK3R1	5295	broad.mit.edu	37	5	67589619	67589621	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:67589619_67589621delGAG	uc003jva.3	+	10	1962_1964	c.1382_1384delGAG	c.(1381-1386)cgagaa>caa	p.461_462RE>Q	PIK3R1_uc003jvc.3_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.3_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.3_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc021xzn.1_In_Frame_Del_p.98_99RE>Q|PIK3R1_uc011crb.2_In_Frame_Del_p.131_132RE>Q	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	461					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.F456_R461>S(2)|p.F456_R461del(2)|p.E462_R465delEYDR(2)|p.Q457_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.E462*(2)|p.E162*(1)|p.E192*(1)|p.K459_S460>N(1)|p.0?(1)|p.?(1)|p.S460fs*5(1)|p.R461*(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAAAAAGTCGAGAATATGATAG	0.281			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
HOMER1	9456	broad.mit.edu	37	5	78752779	78752781	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:78752779_78752781delTTC	uc003kfy.3	-	1	1169_1171	c.66_68delGAA	c.(64-69)aagaac>aac	p.K22del	HOMER1_uc010jab.3_In_Frame_Del_p.K22del|HOMER1_uc010jac.3_In_Frame_Del_p.K22del|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	22	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GGGTACCCAGTTCTTCTTTGTGT	0.433												
FAT2	2196	broad.mit.edu	37	5	150934173	150934173	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:150934173A>G	uc003lue.4	-	3	3708	c.3695T>C	c.(3694-3696)aTc>aCc	p.I1232T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1232	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTCCAAGATGCCTACCAC	0.552												
TIMD4	91937	broad.mit.edu	37	5	156381617	156381617	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:156381617C>T	uc003lwh.2	-	1	266	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TIMD4_uc010jii.2_Missense_Mutation_p.R70H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	70	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATCAGTGCGGATGAGCGC	0.522												
FGFR4	2264	broad.mit.edu	37	5	176520301	176520301	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:176520301A>C	uc003mfl.3	+	8	1387	c.1220A>C	c.(1219-1221)cAg>cCg	p.Q407P	FGFR4_uc003mfm.3_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	407					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCACTGTGCAGAAGCTCTCC	0.692										TSP Lung(9;0.080)		
KIAA0319	9856	broad.mit.edu	37	6	24563608	24563608	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:24563608A>G	uc011djo.2	-	15	3070	c.2570T>C	c.(2569-2571)aTt>aCt	p.I857T	KIAA0319_uc011djp.2_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	857					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGGGCCCGAATCTTCTGGAC	0.567												
HIST1H3F	8968	broad.mit.edu	37	6	26250643	26250643	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:26250643C>T	uc003nhg.1	-	0	193	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGTAGCTTGCGAATCAGTAG	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TULP1	7287	broad.mit.edu	37	6	35477607	35477607	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:35477607T>C	uc003okv.4	-	5	610	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TULP1_uc003okw.4_Missense_Mutation_p.K147E|TULP1_uc021yyx.1_Missense_Mutation_p.K200E|TULP1_uc021yyy.1_Missense_Mutation_p.K200E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	200					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCACCTTTCTTCTTGGTC	0.592												
CAPN11	11131	broad.mit.edu	37	6	44140965	44140965	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:44140965T>A	uc003owt.1	+	6	711	c.673T>A	c.(673-675)Tcc>Acc	p.S225T		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	225	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGTGGGTCCTATGAAGC	0.617											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAB23	51715	broad.mit.edu	37	6	57055306	57055309	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:57055306_57055309delTTTG	uc003pds.3	-	6	870_873	c.664_667delCAAA	c.(664-669)caaaggfs	p.Q222fs	RAB23_uc003pdt.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.3_Non-coding_Transcript	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.	222					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTTGGTCCTTTGTTTGTTGGGT	0.387												
SPACA1	81833	broad.mit.edu	37	6	88769216	88769216	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:88769216A>C	uc003pmn.3	+	4	637	c.520A>C	c.(520-522)Aag>Cag	p.K174Q		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	174						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGAAGTACGCAAGGAAAGTCA	0.343												
ASCC3	10973	broad.mit.edu	37	6	101110219	101110219	+	Splice_Site	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:101110219A>T	uc003pqk.3	-	15	2807	c.2478_splice	c.e15+1	p.K826_splice	ASCC3_uc011eai.1_Splice_Site_p.K728_splice	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	826	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTCTTACCTTAATAAT	0.398												
CCDC129	223075	broad.mit.edu	37	7	31617703	31617703	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:31617703G>A	uc011kae.2	+	7	915	c.903G>A	c.(901-903)gaG>gaA	p.E301E	CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tcj.1_Silent_p.E275E|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.E183E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	275										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTATCAGAGTCCTTCAAGG	0.453												
Unknown	168474	broad.mit.edu	37	7	64313091	64313091	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:64313091T>C								ZNF138 (19066 upstream) : AK097702 (17459 downstream)																							CTTAGGAATATCCAGCCACTG	0.493												
TRIM73	378108	broad.mit.edu	37	7	75028495	75028495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:75028495G>A	uc010ldc.3	+	1	478	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	TRIM73_uc003udc.1_Missense_Mutation_p.R93Q|TRIM73_uc010ldd.2_Missense_Mutation_p.R93Q	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	93						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGCACCACCGGAACCCGCTC	0.667												
SMURF1	57154	broad.mit.edu	37	7	98636097	98636099	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:98636097_98636099delGTT	uc003upu.2	-	14	2018_2020	c.1678_1680delAAC	c.(1678-1680)aacdel	p.N560del	SMURF1_uc003upv.2_In_Frame_Del_p.N534del|SMURF1_uc003upt.3_In_Frame_Del_p.N534del	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	560	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCGAAGGCGTTGTGTTCCACG	0.512												
CFTR	1080	broad.mit.edu	37	7	117180363	117180363	+	Missense_Mutation	SNP	C	C	G	rs75053309		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:117180363C>G	uc003vjd.3	+	7	1211	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	360	ABC transmembrane type-1 1.		QT -> KK (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTGTACAAACATGGTATGAC	0.388									Cystic Fibrosis			
SND1	27044	broad.mit.edu	37	7	127724820	127724820	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:127724820G>T	uc003vmi.3	+	18	2381	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S	SND1_uc010lle.3_Missense_Mutation_p.A372S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	719					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.A719S(2)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAATGACATTGCCAGTCACCC	0.562												
SSPO	23145	broad.mit.edu	37	7	149477563	149477563	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:149477563C>A	uc010lpk.3	+	11	1634	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	545					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTAACCCCTGGTGGGTC	0.627												
POLR3D	661	broad.mit.edu	37	8	22106020	22106020	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:22106020C>T	uc003xbl.3	+	5	596	c.513C>T	c.(511-513)aaC>aaT	p.N171N	POLR3D_uc003xbm.3_Silent_p.N171N|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	171					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCTGAGGAACGACACTCGAA	0.527												
KCTD9	54793	broad.mit.edu	37	8	25287394	25287394	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:25287394G>A	uc003xeo.3	-	11	1371	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	383						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTTGTGACATGTGTAGTGGTG	0.428												
FAM110B	90362	broad.mit.edu	37	8	59058884	59058884	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:59058884A>T	uc022auu.1	+	0	95	c.95A>T	c.(94-96)aAg>aTg	p.K32M	FAM110B_uc003xtj.1_Missense_Mutation_p.K32M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	32						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCTGAACAAGGGGCCAGAC	0.657												
NCOA2	10499	broad.mit.edu	37	8	71069277	71069277	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:71069277A>G	uc003xyn.1	-	10	1485	c.1323T>C	c.(1321-1323)ttT>ttC	p.F441F		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	441					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCACCAAACCTGCCCA	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""							
SLC7A13	157724	broad.mit.edu	37	8	87235301	87235301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:87235301delG	uc003ydq.1	-	1	815	c.717delC	c.(715-717)cccfs	p.P239fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	239						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATGCATTTGGGAATTGTTG	0.358												
NCALD	83988	broad.mit.edu	37	8	102705056	102705056	+	Silent	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:102705056T>C	uc003yke.3	-	2	816	c.447A>G	c.(445-447)acA>acG	p.T149T	NCALD_uc003ykf.3_Silent_p.T149T|NCALD_uc003ykg.3_Silent_p.T149T|NCALD_uc003ykh.3_Silent_p.T149T|NCALD_uc003yki.3_Silent_p.T149T|NCALD_uc003ykj.3_Silent_p.T149T|NCALD_uc003ykk.3_Silent_p.T149T|NCALD_uc003ykl.3_Silent_p.T149T	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	149	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGATCTTTTCTGTTCTTTTCT	0.507												
PKHD1L1	93035	broad.mit.edu	37	8	110460477	110460477	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:110460477A>G	uc003yne.3	+	38	5986	c.5882A>G	c.(5881-5883)aAt>aGt	p.N1961S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1961	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATGGCCAATGATAGTGTG	0.438										HNSCC(38;0.096)		
FER1L6	654463	broad.mit.edu	37	8	125047566	125047566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:125047566G>A	uc003yqw.3	+	18	2541	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	779						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)			AAAAGTCGACGTGTACCTGTG	0.493												
DGAT1	8694	broad.mit.edu	37	8	145540703	145540703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:145540703delG	uc003zbv.3	-	14	1498	c.1230delC	c.(1228-1230)gccfs	p.A410fs		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	410					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGAAGGCCGAGGCCAGGAACA	0.637												
FXN	2395	broad.mit.edu	37	9	71687595	71687595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:71687595G>T	uc004aha.2	+	4	770	c.550G>T	c.(550-552)Gag>Tag	p.E184*	FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	NM_000144	NP_000135	Q16595	FRDA_HUMAN	Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						GTCCCTCCATGAGCTGCTGGC	0.498												
TLE4	7091	broad.mit.edu	37	9	82227600	82227600	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:82227600C>T	uc004ald.3	+	4	1110	c.261C>T	c.(259-261)atC>atT	p.I87I	TLE4_uc004alc.3_Silent_p.I94I|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.I87I|TLE4_uc010mps.3_Silent_p.I87I|TLE4_uc004alf.3_Silent_p.I32I	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGAATGCTATCTGTGCACAAG	0.408												
TDRD7	23424	broad.mit.edu	37	9	100235814	100235814	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:100235814G>T	uc004axj.3	+	10	2210	c.1985G>T	c.(1984-1986)tGc>tTc	p.C662F	TDRD7_uc011lux.2_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Missense_Mutation_p.C11F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	662					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACTAATATTTGCTCTGATGGG	0.443												
HSDL2	84263	broad.mit.edu	37	9	115181194	115181194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:115181194delA	uc004bga.2	+	5	809	c.554delA	c.(553-555)gaafs	p.E185fs	HSDL2_uc004bgc.2_Frame_Shift_Del_p.E112fs|HSDL2_uc004bgb.2_Frame_Shift_Del_p.N36fs|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Frame_Shift_Del_p.E64fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	185						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGGCAGAAGAATTTAAAGGT	0.284												
CDK5RAP2	55755	broad.mit.edu	37	9	123313122	123313122	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:123313122T>A	uc004bkf.3	-	3	435	c.254A>T	c.(253-255)gAg>gTg	p.E85V	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	85					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATTCTTTCCTCAAGGAAATA	0.383												
TOR1A	1861	broad.mit.edu	37	9	132585088	132585088	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:132585088C>T	uc004byl.3	-	1	293	c.216G>A	c.(214-216)caG>caA	p.Q72Q	TOR1A_uc004byn.3_Silent_p.Q72Q	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	72					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGCAAGATGCTGTCCAAAGA	0.483												
ATRX	546	broad.mit.edu	37	X	76939674	76939675	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chrX:76939674_76939675delTT	uc004ecp.4	-	8	1305_1306	c.1073_1074delAA	c.(1072-1074)aaafs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTCAATCAGTTTTTTTGCCTT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
