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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NR4A2	4929	broad.mit.edu	37	2	157186342	157186342	+	Silent	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:157186342C>T	uc002tyz.4	-	2	779	c.357G>A	c.(355-357)tcG>tcA	p.S119S	NR4A2_uc021vri.1_Silent_p.S119S|NR4A2_uc002tyx.4_Silent_p.S56S|NR4A2_uc010zcf.2_Silent_p.S119S|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	119	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTAGTAAACCGACCCGGAGT	0.612000														269			23		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69973005	69973005	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:69973005G>A	uc002exu.1	+	22	2508	c.2419G>A	c.(2419-2421)Ggg>Agg	p.G807R	WWP2_uc002exv.1_Missense_Mutation_p.G807R|WWP2_uc010vlm.1_Missense_Mutation_p.G691R|WWP2_uc010vln.1_Missense_Mutation_p.G425R|WWP2_uc002exw.1_Missense_Mutation_p.G368R	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	807	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597000														36			6		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:21971003C>T	uc003zpk.3	-	1	661	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.E119K|CDKN2A_uc003zpl.3_Silent_p.*133*	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	119			E -> Q (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(7)|p.E119Q(4)|p.A118fs*10(2)|p.A118fs*27(2)|p.A118V(1)|p.0(1)|p.*174L(1)|p.A118P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				97			12		0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5233847	5233847	+	Silent	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:5233847C>T	uc003ziy.3	+	1	495	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	130					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TAATTTGTGACGATGGAACTT	0.378000														77			7		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														220			12		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138289266	138289266	+	Missense_Mutation	SNP	T	C	C	rs143423470		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:138289266T>C	uc003esl.3	-	5	557	c.359A>G	c.(358-360)gAa>gGa	p.E120G	CEP70_uc011bmk.2_Missense_Mutation_p.E100G|CEP70_uc011bml.2_Missense_Mutation_p.E102G|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.E120G|CEP70_uc003esn.3_Missense_Mutation_p.E120G	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	120					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.M119I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCACACTTTCCATAATTTG	0.363000														209			48		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	891	891	+	RNA	SNP	A	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrGL000237.1:891A>G	uc011mgu.1	-	1		c.327T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		acaaccgcagaagatgaatca	0.582000														131			10		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8092007	8092007	+	RNA	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:8092007C>T	uc011kwt.2	+	3		c.375C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GCCCCCAGCACGAGGCTGTCC	0.547000														85			5		0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10334708	10334708	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:10334708T>C	uc002mnl.2	-	1	985	c.874A>G	c.(874-876)Agc>Ggc	p.S292G	S1PR2_uc021uos.1_Missense_Mutation_p.S292G	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	292					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGTCCCGGCTGCGCCACGTG	0.687000														117			6		0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81930573	81930573	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:81930573C>A	uc010qlx.1	-	0	504	c.454G>T	c.(454-456)Gac>Tac	p.D152Y	ANXA11_uc001kbq.1_Missense_Mutation_p.D52Y|ANXA11_uc001kbr.1_Missense_Mutation_p.D52Y|ANXA11_uc001kbs.1_Missense_Mutation_p.D52Y|ANXA11_uc001kbt.1_Missense_Mutation_p.D52Y|ANXA11_uc010qly.1_Missense_Mutation_p.D19Y|ANXA11_uc001kbu.1_Missense_Mutation_p.D52Y	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	52					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GAGAGATAGTCCTGGTTGAAC	0.652000														204			13		0.000219431	0.000235807	1	1	0
EGFR	1956	broad.mit.edu	37	7	55214348	55214348	+	Silent	SNP	C	T	T	rs2072454	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:55214348C>T	uc003tqk.3	+	3	720	c.474C>T	c.(472-474)aaC>aaT	p.N158N	EGFR_uc003tqh.3_Silent_p.N158N|EGFR_uc003tqi.3_Silent_p.N158N|EGFR_uc003tqj.3_Silent_p.N158N|EGFR_uc022adm.1_Silent_p.N158N|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.N105N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	158					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.N158N(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGTGCAACGTGGAGAGCA	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				174			8		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145096207	145096207	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:145096207A>G	uc011lkw.2	+	3	1483	c.1381A>G	c.(1381-1383)Atc>Gtc	p.I461V	SPATC1_uc011lkx.2_Intron	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	461										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGTCCAGCATCTTCCCAGA	0.632000														103			11		0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161645099	161645099	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:161645099A>T	uc001gaz.2	+	5	940	c.813A>T	c.(811-813)aaA>aaT	p.K271N	FCGR2B_uc001gay.2_Missense_Mutation_p.K270N|FCGR2B_uc001gba.2_Intron|FCGR2B_uc009wun.2_Missense_Mutation_p.K264N|FCGR2B_uc001gbb.2_Intron	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	271					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCTGAGAAACCAGGTGAGT	0.602000			T	?	ALL									51			7		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														178			10		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														57			4		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785352	10785352	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:10785352A>C	uc001mja.3	+	8	1269	c.1120A>C	c.(1120-1122)Aat>Cat	p.N374H		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	374					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCCTAATAATTACGAAAC	0.358000														196			10		0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659700	24659700	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr14:24659700G>A	uc010tob.1	-	8	2652	c.2018C>T	c.(2017-2019)gCc>gTc	p.A673V	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'UTR|TM9SF1_uc001wnb.1_Missense_Mutation_p.A438V|TM9SF1_uc010toa.1_Missense_Mutation_p.A351V|TM9SF1_uc001wnc.3_Missense_Mutation_p.A438V	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	438					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AAAGGGGCTGGCGTTGTTCTT	0.577000														248			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476557	179476557	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:179476557G>A	uc021vsy.1	-	216	43000	c.42775C>T	c.(42775-42777)Cgg>Tgg	p.R14259W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R7954W|TTN_uc021vta.1_Missense_Mutation_p.R7887W|TTN_uc021vtb.1_Missense_Mutation_p.R7762W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15186	Fibronectin type-III 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGCCCGAACCTGAAAC	0.458000														312			14		0	0	1	0	0
COX4NB	10328	broad.mit.edu	37	16	85832764	85832764	+	Silent	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:85832764G>A	uc002fjd.3	-	0	385	c.138C>T	c.(136-138)ggC>ggT	p.G46G	COX4NB_uc010vol.2_Silent_p.G46G|COX4I1_uc002fje.3_5'Flank|COX4I1_uc002fjf.3_5'Flank	NM_006067	NP_006058	O43402	CX4NB_HUMAN	Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA.	46						mitochondrion|nucleus				large_intestine(1)|upper_aerodigestive_tract(1)	2						GGGCGCCGGGGCCGCCCAGGG	0.697000														50			5		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103299607	103299607	+	Silent	SNP	A	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr13:103299607A>G	uc001vpi.4	+	20	2644	c.2541A>G	c.(2539-2541)ttA>ttG	p.L847L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	847					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.L846L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAACTATTATATGAATCTG	0.368000														92			8		0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179320574	179320574	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:179320574C>T	uc001gml.3	+	14	1804	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	SOAT1_uc010pni.2_Missense_Mutation_p.R460C|SOAT1_uc001gmm.3_Missense_Mutation_p.R467C|SOAT1_uc010pnj.2_Missense_Mutation_p.R261C|SOAT1_uc010pnk.2_Missense_Mutation_p.R460C	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	525					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATGGTATGCACGTCAGCACTG	0.433000														388			37		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689881	21689881	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:21689881G>A	uc002wsj.2	+	3	1135	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	PAX1_uc010zsl.2_Missense_Mutation_p.V361M|PAX1_uc010zsm.2_Missense_Mutation_p.V337M	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	361					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCTCTGCCGTGGGCGGCTT	0.697000														634			25		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966551	23966551	+	Missense_Mutation	SNP	C	T	T	rs143742821	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:23966551C>T	uc002wts.3	-	3	498	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GGTLC1_uc002wtu.3_Missense_Mutation_p.R122Q	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	122							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CACCACCATCCGGACCTGGCC	0.662000														454			32		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48654515	48654515	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:48654515G>A	uc002pia.1	-	6	668	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.T152M|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	183					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.T183T(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567000								Nucleotide excision repair (NER)						595			29		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35227738	35227738	+	Silent	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:35227738C>T	uc001mvu.3	+	10	1796	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Silent_p.F411F|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Silent_p.F18F|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	454	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGATTTCTTCAACCCAATCT	0.468000														277			23		0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	C	C	rs72555397		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:29910607G>C	uc003nol.3	+	1	231	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Silent_p.V49V|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Missense_Mutation_p.G93R|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.V49V(4)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				121			5		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268187	43268187	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:43268187T>C	uc002ouo.2	-	1	409	c.311A>G	c.(310-312)aAt>aGt	p.N104S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.N104S|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	104	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGATGCATTGGAATATAT	0.423000														822			83		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:140811108C>T	uc021xsg.1	-	1	2234	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000														109			7		0	0	1	0	0
MTG1	92170	broad.mit.edu	37	10	135215660	135215660	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:135215660A>G	uc001lnd.3	+	7	685	c.581A>G	c.(580-582)gAg>gGg	p.E194G	MTG1_uc010qve.2_Missense_Mutation_p.E59G	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	194	G.					mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CAGGTCTCTGAGCGGCCCCTG	0.657000														468			29		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41101179	41101179	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:41101179C>T	uc002xkg.3	-	7	1361	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	PTPRT_uc010ggj.3_Missense_Mutation_p.V393M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	393	Fibronectin type-III 2.				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			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)				ACGATTTCCACGTTCTGTGGG	0.562000														153			9		0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22030753	22030753	+	Splice_Site	SNP	A	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:22030753A>G	uc010odq.2	-	20	2789	c.2551_splice	c.e20+1	p.K851_splice	USP48_uc001bfa.3_Splice_Site_p.K377_splice|USP48_uc001bfb.3_Splice_Site_p.K839_splice|USP48_uc009vqc.3_Splice_Site_p.K773_splice|USP48_uc001bfc.3_Splice_Site_p.K839_splice|USP48_uc001bfd.1_Intron	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	839					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATGAAAACTTACTGGGCTCAG	0.368000														159			18		0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108768484	108768484	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:108768484G>T	uc003psj.3	+	7	1061	c.875G>T	c.(874-876)gGa>gTa	p.G292V		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	292							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCTGCTGCAGGAAAACTCTAC	0.323000														121			12		0.00185496	0.00196407	1	1	0
TMEM145	284339	broad.mit.edu	37	19	42821981	42821981	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:42821981T>A	uc002otk.1	+	11	1073	c.1021T>A	c.(1021-1023)Ttt>Att	p.F341I		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	341						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACTGCGACACTTTCCTGAGAA	0.587000														245			23		0	0	1	0	0
DQ590126	0	broad.mit.edu	37	1	143403554	143403554	+	Splice_Site	SNP	T	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:143403554T>G	uc002zkn.1	-	1		c.30_splice	c.e1+1		DQ587539_uc001ejl.1_5'Flank					Homo sapiens piRNA piR-47400, complete sequence.																		GGAACAGGATTTCTTTGGCCA	0.468000														27			3		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2589	2589	+	RNA	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrGL000237.1:2589C>T	uc011mgu.1	-	0		c.98G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		agacgagccacggtgttacag	0.607000														43			4		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:7577114C>A	uc002gim.2	-	7	1018	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552000		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)				93			6		0.00198382	0.00207007	1	1	0
ZNF167	55888	broad.mit.edu	37	3	44611616	44611616	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:44611616C>A	uc003cnj.3	+	5	1430	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.F338L|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.F187L	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	338					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		AAAATGATTTCTTGGAAATAA	0.403000														310			11		0.00829132	0.00829132	1	1	0
ARX	170302	broad.mit.edu	37	X	25033684	25033684	+	Silent	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:25033684G>A	uc004dbp.4	-	0	382	c.171C>T	c.(169-171)cgC>cgT	p.R57R		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	57						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CCGGGTCGGCGCGGCTGGTCA	0.627000														62			9		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677757	40677757	+	Silent	SNP	G	A	A	rs146103273	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:40677757G>A	uc001rmg.4	+	18	2443	c.2322G>A	c.(2320-2322)gcG>gcA	p.A774A	LRRK2_uc001rmh.1_Silent_p.A396A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	774					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A774V(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACGAAAAGCGTTGACGATAA	0.433000														228			32		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19212958	19212958	+	Splice_Site	SNP	C	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:19212958C>A	uc001bbb.3	-	4	573	c.297_splice	c.e4+1	p.K99_splice	ALDH4A1_uc010ocu.2_Splice_Site_p.K39_splice|ALDH4A1_uc001bbc.3_Splice_Site_p.K99_splice|ALDH4A1_uc021ohl.1_Splice_Site_p.K99_splice	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	99					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCTCACTCACCTTGTCTGCAT	0.587000														127			12		2.27111e-07	2.47757e-07	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165832222	165832222	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:165832222A>T	uc003qun.3	-	11	1114	c.869T>A	c.(868-870)tTc>tAc	p.F290Y	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.F220Y|PDE10A_uc003quo.3_Missense_Mutation_p.F300Y	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	290	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCCACCTGGAAAAGCGCACA	0.388000														119			11		0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209603784	209603784	+	Silent	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:209603784C>T	uc009xcn.3	+	2	509	c.126C>T	c.(124-126)ctC>ctT	p.L42L	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		TGTCATCTCTCAAGTACCCAT	0.488000														318			23		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105456665	105456665	+	Splice_Site	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:105456665C>T	uc003yly.4	-	4	733	c.604_splice	c.e4-1	p.G202_splice		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	202					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTTGCTCCCTAAAAAGAC	0.478000														104			8		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20768012	20768012	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:20768012C>T	uc010kuh.3	+	22	3038	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ABCB5_uc003suw.4_Missense_Mutation_p.A489V|ABCB5_uc003sux.1_Missense_Mutation_p.A112V	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	489					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A489V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGCCTATGCGGCAGGGTTT	0.423000														220			28		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949561	235949561	+	Missense_Mutation	SNP	A	C	C	rs138775253		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:235949561A>C	uc002vvp.3	+	3	541	c.148A>C	c.(148-150)Aac>Cac	p.N50H	SH3BP4_uc010fym.3_Missense_Mutation_p.N50H|SH3BP4_uc002vvq.3_Missense_Mutation_p.N50H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	50					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCGTAGACAACCCCACACC	0.532000														212			11		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262838	6262838	+	Silent	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:6262838G>A	uc001mco.3	+	4	1210	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	CNGA4_uc010raa.2_Silent_p.Q134Q|CNGA4_uc001mcn.3_Silent_p.Q325Q	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	365					response to stimulus|sensory perception of smell		cAMP binding	p.L364M(1)		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)		TGAAGCTGCAGCCCCAGACCT	0.567000														511			33		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														143			10		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958769	16958769	+	Splice_Site	SNP	C	T	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:16958769C>T	uc001azg.1	-	4		c.505_splice	c.e4+1		CROCCP2_uc009vov.2_5'Flank|CROCCP2_uc001aze.3_5'Flank|CROCCP2_uc001azf.3_Intron|CROCCP2_uc021ogv.1_5'Flank|CROCCP2_uc001azi.1_Splice_Site					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTGAAGCTCACCAGGGCCTCA	0.622000														79			12		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6718398	6718398	+	Nonsense_Mutation	SNP	G	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6718398G>C	uc002mfm.3	-	2	355	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	98					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCCTTTTCTGACTTGAACTC	0.617000														254			12		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892513	22892513	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:22892513A>C	uc002zwf.3	-	3	744	c.588T>G	c.(586-588)atT>atG	p.I196M	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.I180M|PRAME_uc010gtr.3_Missense_Mutation_p.I196M|PRAME_uc002zwg.3_Missense_Mutation_p.I196M|PRAME_uc002zwh.3_Missense_Mutation_p.I196M|PRAME_uc002zwi.3_Missense_Mutation_p.I196M|PRAME_uc002zwj.3_Missense_Mutation_p.I196M|PRAME_uc002zwk.3_Missense_Mutation_p.I196M	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.I196T(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCACTTTCTCAATGAGGTAGG	0.458000														305			15		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627515	79627515	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:79627515G>A	uc003ybd.3	+	7	866	c.764G>A	c.(763-765)gGt>gAt	p.G255D		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	255																	CCTGCCCCAGGTGTGCTTACA	0.358000														132			6		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:8384397C>G	uc010sgk.2	-	4		c.1391G>C								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000														118			7		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:74957824_74957826delCTT	uc001dge.2	+	24	2595_2597	c.2528_2530delCTT	c.(2527-2532)ccttct>cct	p.S847del	FPGT-TNNI3K_uc001dgf.2_In_Frame_Del_p.S746del	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	746						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCTCTCACCTTCTTCTTCTTC	0.473													---	645	---	---	9	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	50	---	---	8	---					
NBPF10	100132406	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	AG	AG	rs10625215		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTAAACCTCAAAGAGATGTTTT	0.470													---	296	---	---	7	---					
LCE1F	353137	broad.mit.edu	37	1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:152749003_152749008delTGGCTC	uc010pdv.2	+	0	156_161	c.156_161delTGGCTC	c.(154-162)tgtggctcc>tgc	p.GS53del		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	53					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.680													---	310	---	---	8	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|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.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase 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)			gcagctcctccagcagcAGCAGC	0.611													---	278	---	---	10	---					
PRG4	10216	broad.mit.edu	37	1	186276542	186276544	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:186276542_186276544delCTC	uc001gru.4	+	6	1742_1744	c.1691_1693delCTC	c.(1690-1695)actccc>acc	p.P565del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.P524del|PRG4_uc009wyl.3_In_Frame_Del_p.P472del|PRG4_uc009wym.3_In_Frame_Del_p.P431del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	565	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.640													---	433	---	---	7	---					
MOGS	7841	broad.mit.edu	37	2	74690035	74690035	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:74690035delG	uc010ffj.3	-	3	1044	c.881delC	c.(880-882)cctfs	p.P294fs	MOGS_uc010ffh.3_Frame_Shift_Del_p.P19fs|MOGS_uc010yrt.2_Frame_Shift_Del_p.P175fs|MOGS_uc010ffi.3_Frame_Shift_Del_p.P188fs|MOGS_uc010yru.1_3'UTR	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	294					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTAGCGTTCAGGGGGGGCCCC	0.587													---	720	---	---	7	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:100218011_100218013delGCT	uc002taf.3	-	12	1474_1476	c.1330_1332delAGC	c.(1330-1332)agcdel	p.S444del	AFF3_uc002tag.3_In_Frame_Del_p.S419del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													---	49	---	---	7	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:129370576_129370578delCTG	uc021xdy.1	-	5	2142_2144	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_uc003emy.4_In_Frame_Del_p.Q246del|TMCC1_uc011blc.2_In_Frame_Del_p.Q391del|TMCC1_uc010htg.3_In_Frame_Del_p.Q456del	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													---	353	---	---	11	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:195452664delC	uc010hzo.3	+	2	803	c.677delC	c.(676-678)accfs	p.T226fs	MUC20_uc010hzp.3_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													---	43	---	---	10	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:661763_661765delAGG	uc003gap.3	+	20	2524_2526	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_uc003gao.4_In_Frame_Del_p.E828del|PDE6B_uc011buy.2_In_Frame_Del_p.E549del|PDE6B_uc011buz.2_In_Frame_Del_p.E260del	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	828					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													---	497	---	---	7	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	307	---	---	7	---					
TUBB7P	56604	broad.mit.edu	37	4	190903691	190903691	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:190903691delC	uc011clg.2	-	3	1294	c.1076delG	c.(1075-1077)ggafs	p.G359fs				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	431					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TACTCCTCCTCCCTCGGCCGT	0.532													---	537	---	---	7	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:32419951_32419953delGGT	uc003jhr.1	-	2	473_475	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P	ZFR_uc010iun.1_In_Frame_Del_p.131_132PP>P	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													---	588	---	---	7	---					
HCN1	348980	broad.mit.edu	37	5	45695973	45695978	+	In_Frame_Del	DEL	CGCCGC	-	-	rs56063136		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:45695973_45695978delCGCCGC	uc003jok.3	-	0	243_248	c.218_223delGCGGCG	c.(217-225)ggcggcgag>gag	p.GG73del		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	73	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCGGCTCCTcgccgccgccgccgcc	0.762													---	68	---	---	27	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	-	-	rs80118146		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:115202418_115202421delAAGA	uc003krl.3	+	1	237_240	c.121_124delAAGA	c.(121-126)aagagafs	p.K41fs	AP3S1_uc003krk.3_Frame_Shift_Del_p.K19fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													---	143	---	---	7	---					
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:175306965_175306967delGAG	uc003mde.1	+	4	668_670	c.322_324delGAG	c.(322-324)gagdel	p.E114del	CPLX2_uc003mdf.1_In_Frame_Del_p.E114del|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	114					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGGACGAGGAGGAGGAGG	0.645													---	93	---	---	7	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:25921520delT	uc011dkb.2	-	2	444	c.361delA	c.(361-363)atgfs	p.M121fs	SLC17A2_uc011dkc.2_Frame_Shift_Del_p.M121fs|SLC17A2_uc003nfl.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													---	235	---	---	8	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:33411201_33411203delCAC	uc011dri.2	+	14	3067_3069	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_uc010juy.3_In_Frame_Del_p.H937del|SYNGAP1_uc010juz.3_In_Frame_Del_p.H678del	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													---	682	---	---	9	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	463	---	---	7	---					
IGF2R	3482	broad.mit.edu	37	6	160485487	160485488	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:160485487_160485488insG	uc003qta.3	+	27	4089_4090	c.3941_3942insG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505													---	563	---	---	8	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:20824941_20824943delGCC	uc003suz.3	-	1	584_586	c.493_495delGGC	c.(493-495)ggcdel	p.G165del	SP8_uc003suy.3_In_Frame_Del_p.G147del|SP8_uc022aak.1_In_Frame_Del_p.G147del	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													---	15	---	---	9	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:91671392_91671393delAG	uc003ulg.3	+	18	5175_5176	c.4950_4951delAG	c.(4948-4953)tcagagfs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								---	181	---	---	7	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	GCCGCC	GCCGCC			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:103629803_103629804insGCCGCC	uc022ajr.1	-	0					RELN_uc022ajq.1_Start_Codon_Ins|RELN_uc010liz.3_Start_Codon_Ins	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													---	36	---	---	9	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:116187646_116187648delGCA	uc004bhp.3	+	9	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_uc004bho.4_In_Frame_Del_p.Q304del	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													---	250	---	---	8	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	7	---	---	4	---					
ABCC2	1244	broad.mit.edu	37	10	101558979	101558979	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:101558979delA	uc001kqf.2	+	7	1022	c.883delA	c.(883-885)aaafs	p.K295fs		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	295						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTTGAAAAGAAAAAAAAGAA	0.438													---	513	---	---	7	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:105048271_105048273delGAG	uc001kws.3	+	2	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													---	423	---	---	9	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	-	-	rs2234451	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													---	375	---	---	9	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:19901475_19901477delAGC	uc010rdm.2	+	4	933_935	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_uc001mpp.3_In_Frame_Del_p.Q132del|NAV2_uc001mpr.4_In_Frame_Del_p.Q196del|NAV2_uc021qew.1_In_Frame_Del_p.Q196del	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	196	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													---	334	---	---	7	---					
CAPRIN1	4076	broad.mit.edu	37	11	34118047	34118047	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:34118047delC	uc001mvh.1	+	15	1916	c.1727delC	c.(1726-1728)tccfs	p.S576fs	CAPRIN1_uc001mvg.3_Frame_Shift_Del_p.S576fs|CAPRIN1_uc001mvi.2_Frame_Shift_Del_p.S576fs|CAPRIN1_uc001mvj.1_Frame_Shift_Del_p.S495fs	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	576					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TACCATGGTTCCCCAGACCAG	0.428													---	223	---	---	18	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	G	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:118629613_118629614insG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								---	574	---	---	11	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	490	---	---	9	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr15:91019925delA	uc002bpl.1	+	23	2916	c.2815delA	c.(2815-2817)aaafs	p.K939fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	939					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													---	404	---	---	8	---					
C16orf72	29035	broad.mit.edu	37	16	9210640	9210640	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:9210640delT	uc002czm.3	+	3	1064	c.699delT	c.(697-699)gatfs	p.D233fs		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	233										endometrium(4)|large_intestine(2)|lung(2)	8						ATGATGTCGATTTGAACACTT	0.478													---	315	---	---	34	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:67300017_67300019delGAG	uc002esm.3	+	14	2170_2172	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	SLC9A5_uc010cee.3_In_Frame_Del_p.E413del|SLC9A5_uc010vji.2_In_Frame_Del_p.E212del	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													---	190	---	---	7	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	350	---	---	9	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	Splice_Site	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	-	rs483929	by1000genomes	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	uc002hwe.4	-	2	287	c.246_splice	c.e2-1	p.S82_splice		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	101	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													---	307	---	---	10	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	102	---	---	10	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:61899155_61899157delCTC	uc002jbz.3	-	13	1600_1602	c.1522_1524delGAG	c.(1522-1524)gagdel	p.E508del	FTSJ3_uc002jca.3_In_Frame_Del_p.E508del	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													---	664	---	---	8	---					
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													---	560	---	---	7	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:35773520_35773522delCTC	uc002nyw.3	+	0	111_113	c.40_42delCTC	c.(40-42)ctcdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													---	727	---	---	14	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:51961617_51961619delGCA	uc002pwt.3	-	0	90_92	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_uc010yda.2_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													---	246	---	---	7	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:38119882_38119884delCCT	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	375	---	---	9	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	459	---	---	9	---					
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:37312611delC	uc004ddn.3	+	4	647	c.394delC	c.(394-396)cccfs	p.P132fs	PRRG1_uc004ddo.3_Frame_Shift_Del_p.P132fs|PRRG1_uc022buu.1_Frame_Shift_Del_p.P132fs|PRRG1_uc022buv.1_Frame_Shift_Del_p.P132fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	132	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													---	360	---	---	7	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	449	---	---	7	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:149639633_149639635delGCA	uc011mxu.2	+	2	2023_2025	c.1713_1715delGCA	c.(1711-1716)ctgcag>ctg	p.Q581del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q606del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q533del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	606					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													---	419	---	---	9	---					
