Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GON4L	54856	broad.mit.edu	37	1	155723012	155723012	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:155723012C>G	uc001flz.2	-	28	5922	c.5825G>C	c.(5824-5826)gGa>gCa	p.G1942A	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.G1942A|GON4L_uc009wrh.1_Missense_Mutation_p.G1942A|GON4L_uc001fma.1_Missense_Mutation_p.G1942A	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1942					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGCATCTCTCCCTTTCTGGT	0.562000													40	90					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80856624	80856624	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr9:80856624G>T	uc004aky.4	+	3	788	c.512G>T	c.(511-513)gGt>gTt	p.G171V	CEP78_uc004akx.2_Missense_Mutation_p.G171V|CEP78_uc010mpp.3_Missense_Mutation_p.G171V|CEP78_uc011lsp.1_Missense_Mutation_p.G84V	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	171					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATTTGTCAAGGTATAAAGAGC	0.343000													25	35					5.8336e-16	6.30893e-16	1	1	0
SYNC	81493	broad.mit.edu	37	1	33161106	33161106	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:33161106T>G	uc001bvt.2	-	1	693	c.593A>C	c.(592-594)cAt>cCt	p.H198P	SYNC_uc010ohl.1_Missense_Mutation_p.H198P	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	198	Coil 1A.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACAAGCTCATGGATGAGCTG	0.567000													20	53					0	0	1	0	0
FLJ45079	400624	broad.mit.edu	37	17	75879250	75879250	+	RNA	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:75879250C>T	uc002jub.2	-	1		c.537G>A								Homo sapiens FLJ45079 protein (FLJ45079), non-coding RNA.															BRCA - Breast invasive adenocarcinoma(99;0.00524)|Lung(188;0.154)			CAGCCTTGGCCCTAGAGTGGG	0.597000													15	41					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr15:24923342C>T	uc001ywo.3	+	0	2802	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	776					cell differentiation|multicellular organismal development|spermatogenesis			p.A776A(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AATTTGGGGCCCCTGATGGGC	0.552000													11	17					0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3273023	3273023	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr18:3273023C>G	uc002klt.4	+	1	267	c.127C>G	c.(127-129)Cag>Gag	p.Q43E	MYL12B_uc010dkl.3_Missense_Mutation_p.Q43E|MYL12B_uc010wyv.2_Missense_Mutation_p.Q43E	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	43	EF-hand 1.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						CATGATTGATCAGAACAGAGA	0.403000													46	95					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44030497	44030497	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:44030497A>T	uc010eiu.1	-	2	298	c.231T>A	c.(229-231)aaT>aaA	p.N77K	ZNF575_uc002owq.3_Intron|ETHE1_uc002owp.3_Missense_Mutation_p.N77K	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	77						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGCAGTGGGTATTCACTGGGA	0.637000													29	67					0	0	1	0	0
C1orf61	10485	broad.mit.edu	37	1	156386616	156386616	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:156386616C>A	uc001fou.1	-	2	289	c.16G>T	c.(16-18)Gat>Tat	p.D6Y	C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	6						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GTTATGAGATCCTCAGTCAGG	0.438000													33	85					2.40579e-17	2.62124e-17	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10328310	10328310	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:10328310T>C	uc001aqx.4	+	6	911	c.709T>C	c.(709-711)Tcc>Ccc	p.S237P	KIF1B_uc001aqv.4_Missense_Mutation_p.S237P|KIF1B_uc001aqw.4_Missense_Mutation_p.S237P|KIF1B_uc001aqy.3_Missense_Mutation_p.S237P|KIF1B_uc001aqz.3_Missense_Mutation_p.S237P|KIF1B_uc001ara.3_Missense_Mutation_p.S237P|KIF1B_uc001arb.3_Missense_Mutation_p.S237P|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	237	Kinesin-motor.			NLSTE -> ILATV (in Ref. 3; AAK49332, 4; AAK85155 and 5; AAN17742).	anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GACCAACCTTTCCACTGAGAA	0.448000													21	67					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42259309	42259309	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr8:42259309G>C	uc022aul.1	+	5	332	c.330G>C	c.(328-330)aaG>aaC	p.K110N	VDAC3_uc010lxk.3_Missense_Mutation_p.E65Q|VDAC3_uc003xpc.3_Missense_Mutation_p.K109N|VDAC3_uc011lct.2_Missense_Mutation_p.K109N	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	109					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATTGCAGAAAGAAGAGTGGGA	0.378000													17	38					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195514366	195514366	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:195514366T>G	uc021xjp.1	-	1	4241	c.4085A>C	c.(4084-4086)cAt>cCt	p.H1362P	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	853	AMOP.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATCAGTGACATGAAGAGGGGT	0.572000													5	81					0	0	1	0	0
C22orf15	150248	broad.mit.edu	37	22	24106287	24106287	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:24106287G>A	uc011aja.2	+	1	325	c.39G>A	c.(37-39)gtG>gtA	p.V13V	C22orf15_uc002zxv.1_Silent_p.V13V|C22orf15_uc002zxu.3_Silent_p.V13V	NM_182520	NP_872326	Q8WYQ4	CV015_HUMAN	Homo sapiens chromosome 22 open reading frame 15 (C22orf15), mRNA.	13										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				GCTGCTCGGTGCTGGTGAACA	0.602000													19	33					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794196	4794196	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:4794196A>C	uc003snc.1	+	2	863	c.853A>C	c.(853-855)Aag>Cag	p.K285Q	FOXK1_uc003sna.1_Missense_Mutation_p.K122Q|FOXK1_uc003snb.1_Missense_Mutation_p.K285Q	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	285					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTTTGCAGCAAAGGCCGCGTC	0.662000													48	40					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582776	15582776	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:15582776G>A	uc002nbg.3	-	2	1401	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	PGLYRP2_uc002nbf.4_Missense_Mutation_p.T423M	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	423					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGCGCAGCGCGTGAAGTCCGT	0.672000													3	57					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734893	24734893	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:24734893C>T	uc001wof.3	-	15	2054	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	TGM1_uc001wod.3_5'Flank|TGM1_uc010tog.2_5'Flank|RABGGTA_uc001wog.3_Silent_p.P544P	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	544					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CTTGGCACAGCGGGTTACCCT	0.612000													32	56					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45534138	45534138	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr21:45534138T>C	uc002zeb.3	+	3	395	c.305T>C	c.(304-306)gTg>gCg	p.V102A		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	102						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GTGCACAGTGTGTCCTTCTCC	0.652000											OREG0026247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	54					0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17384931	17384931	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:17384931T>C	uc002nfu.3	+	4	599	c.481T>C	c.(481-483)Tcc>Ccc	p.S161P	BABAM1_uc010xpl.1_Intron|BABAM1_uc002nfv.3_Missense_Mutation_p.S161P|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Missense_Mutation_p.S161P	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	161	VWFA-like.				G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TGGCCTGACCTCCGACCCCCG	0.667000													18	26					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692266	74692266	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:74692266T>G	uc001jte.1	+	8	1840	c.1622T>G	c.(1621-1623)aTc>aGc	p.I541S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	541						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCGATCCGCATCGACTGGGAG	0.637000													13	42					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	95976175	95976175	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:95976175A>G	uc002sup.3	+	1	203	c.88A>G	c.(88-90)Atc>Gtc	p.I30V	KCNIP3_uc002suo.1_Missense_Mutation_p.I30V	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	30					apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GAAGGAGGGTATCAAGTGGCA	0.622000													79	191					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119099827	119099827	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:119099827A>G	uc003ecj.4	+	3	957	c.425A>G	c.(424-426)cAc>cGc	p.H142R		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	142	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCTCCATCCCACTATAGGTAA	0.493000													60	74					0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3010268	3010268	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:3010268T>C	uc003mus.2	+	2	355	c.17T>C	c.(16-18)gTa>gCa	p.V6A	NQO2_uc003mup.1_Missense_Mutation_p.V6A|NQO2_uc003mut.2_Missense_Mutation_p.V6A	NM_000904	NP_000895	P16083	NQO2_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA.	6						cytoplasm|nucleus	NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGTAAGAAAGTACTCATTGTC	0.423000													22	53					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406585	38406585	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:38406585C>T	uc001izk.3	+	7	1336	c.506C>T	c.(505-507)aCa>aTa	p.T169I	ZNF37A_uc001izl.3_Missense_Mutation_p.T169I|ZNF37A_uc001izm.3_Missense_Mutation_p.T169I	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGGTTACACAGGACAGAAA	0.363000													3	49					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043959	119043959	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:119043959G>T	uc001lde.1	-	4	2484	c.2285C>A	c.(2284-2286)cCt>cAt	p.P762H		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	762					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATAGCCTTAGGTGAGGGGGC	0.403000													18	36					7.41877e-09	7.84885e-09	1	1	0
C5orf65	389333	broad.mit.edu	37	5	138729254	138729254	+	Missense_Mutation	SNP	G	G	A	rs151107743	by1000genomes	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:138729254G>A	uc011czc.1	-	0	1632	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V		NM_001161546	NP_001155018	B4E007	B4E007_HUMAN	Homo sapiens chromosome 5 open reading frame 65 (C5orf65), mRNA.	251										breast(1)|skin(1)	2						ACGATCTGGAGCCTCCCACGG	0.612000													3	44					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44030496	44030496	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:44030496T>A	uc010eiu.1	-	2	299	c.232A>T	c.(232-234)Acc>Tcc	p.T78S	ZNF575_uc002owq.3_Intron|ETHE1_uc002owp.3_Missense_Mutation_p.T78S	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	78						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGCAGTGGGTATTCACTGGG	0.632000													30	69					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218678511	218678511	+	Silent	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:218678511C>G	uc002vgt.2	-	25	4844	c.4446G>C	c.(4444-4446)ccG>ccC	p.P1482P	TNS1_uc002vgr.2_Silent_p.P1469P|TNS1_uc002vgs.2_Silent_p.P1461P|TNS1_uc002vgq.2_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1482	SH2.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P1482P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGAAGGCCCCCGGCTCCTGGT	0.572000													29	54					0	0	1	0	0
VSTM2B	342865	broad.mit.edu	37	19	30018151	30018151	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:30018151T>C	uc010xrl.1	+	1	116	c.116T>C	c.(115-117)gTa>gCa	p.V39A	LOC284395_uc002nse.1_5'Flank	NM_001146339	NP_001139811	A6NLU5	VTM2B_HUMAN	Homo sapiens V-set and transmembrane domain containing 2B (VSTM2B), mRNA.	39	Ig-like V-type.					integral to membrane				breast(2)	2						GATGTGACAGTACGGGAGGGA	0.617000													10	38					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284267	33284267	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:33284267A>G	uc003oeb.3	-	1	579	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.C143R|ZBTB22_uc021ywm.1_Missense_Mutation_p.C143R	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTTCAGTGCACTTGTCCACA	0.587000													48	63					0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47976491	47976491	+	RNA	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chrX:47976491G>C	uc022bvt.1	+	5		c.500G>C				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										TGCCCGCCGGGAAAAGCAAGT	0.527000													116	300					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75848659	75848659	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:75848659G>T	uc021zbv.1	-	26	5011	c.4976C>A	c.(4975-4977)aCa>aAa	p.T1659K	COL12A1_uc021zbw.1_Missense_Mutation_p.T495K|COL12A1_uc003phs.3_Missense_Mutation_p.T1659K|COL12A1_uc003pht.3_Missense_Mutation_p.T495K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1659	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTTAAGTTTGTTGGGGCTGG	0.403000													14	36					2.32078e-09	2.49143e-09	1	1	0
FAM212A	389119	broad.mit.edu	37	3	49842183	49842183	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:49842183A>C	uc003cxq.1	+	1	760	c.627A>C	c.(625-627)gaA>gaC	p.E209D		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	Homo sapiens family with sequence similarity 212, member A (FAM212A), mRNA.	207																	CAGGGAGTGAAGGGGGTGACG	0.652000													109	125					0	0	1	0	0
LINC00336	401253	broad.mit.edu	37	6	33560882	33560882	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:33560882T>C	uc003oew.1	-	0	234	c.232A>G	c.(232-234)Aca>Gca	p.T78A						Homo sapiens long intergenic non-protein coding RNA 336 (LINC00336), non-coding RNA.																		GGGGACTTTGTCTCCATCATC	0.706000													34	47					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018068	1018068	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:1018068G>A	uc001lsw.2	-	30	4784	c.4733C>T	c.(4732-4734)cCa>cTa	p.P1578L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1578	Pro-rich.|Thr-rich.		P -> S (in dbSNP:rs10736904).		maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCTGTAGGTGGGGAGTGTGT	0.582000													56	118					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37949045	37949045	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:37949045A>T	uc001cbb.4	+	5	1783	c.1633A>T	c.(1633-1635)Agg>Tgg	p.R545W	ZC3H12A_uc001cbc.1_Missense_Mutation_p.R340W	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	545					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCGTGGGGCAGGGCAGGCAG	0.647000													44	120					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718487	74718487	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:74718487G>A	uc002slt.2	+	6	692	c.669G>A	c.(667-669)caG>caA	p.Q223Q	TTC31_uc002sls.2_Silent_p.Q152Q|TTC31_uc002slu.2_Silent_p.Q79Q	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	223							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTCAGGGACAGTGTGGTGAAG	0.537000													20	57					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16793291	16793291	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:16793291G>C	uc002nes.3	+	3	617	c.526G>C	c.(526-528)Gag>Cag	p.E176Q		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	176						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGGAAGCCAGAGACCAACGA	0.582000													29	68					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319068	54319068	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr16:54319068C>T	uc002eht.1	-	1	1141	c.725G>A	c.(724-726)gGc>gAc	p.G242D		NM_024336	NP_077312	P78415	IRX3_HUMAN	Homo sapiens iroquois homeobox 3 (IRX3), mRNA.	242	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						caggccctcgccccccgtgtc	0.687000													27	77					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115568961	115568961	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chrX:115568961G>C	uc004eqi.3	+	1	183	c.52G>C	c.(52-54)Gtg>Ctg	p.V18L	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	18					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCCCCAGAAAGTGTCGGCTTC	0.393000													8	27					0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39066951	39066951	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:39066951G>A	uc003awb.3	+	3	417	c.141G>A	c.(139-141)ctG>ctA	p.L47L	CBY1_uc011any.1_Silent_p.L47L|CBY1_uc003awc.3_Silent_p.L47L|BC036921_uc003awd.3_Non-coding_Transcript	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	47					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					CTATGAACCTGGCAGGGCAAA	0.527000													13	43					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604763	108604763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:108604763T>A	uc002tdv.3	+	1	428	c.152T>A	c.(151-153)tTa>tAa	p.L51*	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Nonsense_Mutation_p.L51*|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	51					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GATATTGGTTTATTGGTTGGT	0.532000													33	77					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10653490	10653490	+	Nonsense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:10653490A>C	uc002wnw.2	-	1	762	c.246T>G	c.(244-246)taT>taG	p.Y82*		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	82					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CGCGGGACTGATACTCCTTGA	0.662000									Alagille Syndrome				21	50					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67624628	67624628	+	Silent	SNP	G	G	T	rs150473742	byFrequency	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:67624628G>T	uc002sdz.1	+	0	187	c.48G>T	c.(46-48)acG>acT	p.T16T		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	16						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CGAAGAAAACGCCGCACAAAA	0.622000													4	168					0.217242	0.217242	1	1	0
ZRANB3	84083	broad.mit.edu	37	2	135988115	135988115	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:135988115C>T	uc002tum.3	-	12	2039	c.1922G>A	c.(1921-1923)tGt>tAt	p.C641Y	ZRANB3_uc002tuk.3_Missense_Mutation_p.C184Y|ZRANB3_uc002tul.3_Missense_Mutation_p.C641Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	641						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACACATTTCACAATAAGGTAA	0.473000													4	77					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19106027	19106027	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:19106027C>T	uc002nkz.1	-	8	3116	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	SUGP2_uc002nkx.2_Missense_Mutation_p.M1018I|SUGP2_uc002nla.1_Missense_Mutation_p.M1018I|SUGP2_uc002nlb.2_Missense_Mutation_p.M1018I|SUGP2_uc010xqk.1_Missense_Mutation_p.M787I	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	1018	G-patch.				RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTTCTGCAGCATCTGGAAGC	0.627000													13	25					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405000	7405000	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:7405000G>A	uc002ghf.4	+	13	2687	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	767					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATAACTTCAAGTCTATGGTCG	0.488000													21	79					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17767189	17767189	+	Silent	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:17767189G>T	uc021uqk.1	-	9	828	c.786C>A	c.(784-786)cgC>cgA	p.R262R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	262					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGAGGCATAGCGGCTGCTAC	0.632000													5	16					0.00198382	0.0020397	1	1	0
GPR179	440435	broad.mit.edu	37	17	36492994	36492994	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:36492994C>T	uc002hpz.3	-	3	1115	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCCATGCAGCTGGTGCAGCC	0.632000													10	57					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599044	45599044	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:45599044C>T	uc003bfv.1	-	5	892	c.706G>A	c.(706-708)Gca>Aca	p.A236T	KIAA0930_uc003bfx.1_Missense_Mutation_p.A227T|KIAA0930_uc010gzw.1_Missense_Mutation_p.A79T|KIAA0930_uc003bfw.1_Missense_Mutation_p.A232T|KIAA0930_uc010gzx.2_Missense_Mutation_p.A209T|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	227							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ATCTTCTGTGCCATGCGGGCG	0.667000													21	51					0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237296	139237296	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:139237296C>A	uc003eti.2	-	2	618	c.507G>T	c.(505-507)tgG>tgT	p.W169C		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	107						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TCCACTGGGTCCAGCCACGCC	0.592000													16	45					2.52088e-20	2.78824e-20	1	1	0
PTEN	5728	broad.mit.edu	37	10	89717690	89717690	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:89717690A>G	uc001kfb.3	+	6	1747	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	239	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACAAGTTCATGTACTTTGA	0.418000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			34	90					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409663	69409663	+	Silent	SNP	T	T	G	rs138963459	by1000genomes	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:69409663T>G	uc002sfg.3	+	15	1580	c.1224T>G	c.(1222-1224)gcT>gcG	p.A408A		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	408					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AAGAAGGTGCTAAGTTGGAAA	0.428000									Familial Infantile Hemangioma				19	42					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160268070	160268070	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:160268070T>C	uc003iqg.4	+	18	3459	c.3149T>C	c.(3148-3150)aTc>aCc	p.I1050T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1050					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCACATAAAATCAACCAGGGA	0.522000													18	38					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7917990	7917990	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:7917990C>G	uc010xjz.2	+	7	1053	c.1006C>G	c.(1006-1008)Ccc>Gcc	p.P336A	EVI5L_uc002min.3_Missense_Mutation_p.P336A|EVI5L_uc002mio.1_Missense_Mutation_p.P67A	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	336						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GAGAGTGATCCCCCACCAGTT	0.627000											OREG0025211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	55					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729664	162729664	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:162729664G>A	uc001gcf.3	+	8	1215	c.750G>A	c.(748-750)gtG>gtA	p.V250V	DDR2_uc001gcg.3_Silent_p.V250V	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	250					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AATACCACGTGTGGCCCGGCT	0.532000													43	104					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25265339	25265339	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr13:25265339T>C	uc010aaa.3	+	7	1370	c.1037T>C	c.(1036-1038)aTt>aCt	p.I346T	ATP12A_uc001upp.3_Missense_Mutation_p.I340T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	340					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATCTTCCTCATTGGCATCATT	0.547000													29	54					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72942796	72942796	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:72942796G>A	uc010wrr.2	+	5	846	c.846G>A	c.(844-846)gcG>gcA	p.A282A	OTOP3_uc010wrq.2_Silent_p.A264A	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	282						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ATGCCACCGCGTGTGAAGCTT	0.567000													4	65					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651371	78651371	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:78651371C>G	uc001jxn.3	-	25	3431	c.3254G>C	c.(3253-3255)gGc>gCc	p.G1085A	KCNMA1_uc021ptu.1_Missense_Mutation_p.G977A|KCNMA1_uc001jxj.2_Missense_Mutation_p.G1031A|KCNMA1_uc001jxk.1_Missense_Mutation_p.G703A|KCNMA1_uc009xrt.1_Missense_Mutation_p.G876A|KCNMA1_uc001jxl.1_Missense_Mutation_p.G710A|KCNMA1_uc001jxo.3_Missense_Mutation_p.G1068A|KCNMA1_uc001jxm.3_Missense_Mutation_p.G1027A|KCNMA1_uc001jxq.3_Missense_Mutation_p.G1057A|BC030624_uc001jxp.3_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1085					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.A1085A(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGTGCTGTAGCCACCTCTAAG	0.602000													10	26					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335920	20335920	+	Missense_Mutation	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:20335920G>T	uc001iqg.1	+	2	1084	c.447G>T	c.(445-447)ttG>ttT	p.L149F	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	149						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGGAATATTGTCCAATACTC	0.373000													4	35					0.184627	0.185901	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	54306834	54306834	+	Silent	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:54306834T>C	uc011bzt.1	+	12	1338	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Intron|PDGFRA_uc011bzu.2_Intron|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Intron|PDGFRA_uc010ign.3_Intron|FIP1L1_uc003hae.3_Intron	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCAAGCTTATAGTTACAGGA	0.363000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	16					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78055491	78055491	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:78055491C>A	uc010dht.3	+	10	1740	c.1709C>A	c.(1708-1710)aCc>aAc	p.T570N	CCDC40_uc021uem.1_Missense_Mutation_p.T570N|CCDC40_uc002jxm.4_Missense_Mutation_p.T353N|CCDC40_uc002jxn.4_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	570					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGCTCACCACCCAGTGCCTG	0.562000													46	152					3.50607e-19	3.84876e-19	1	1	0
MRPL45	84311	broad.mit.edu	37	17	36478132	36478132	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:36478132C>T	uc002hpy.3	+	6	945	c.784C>T	c.(784-786)Cat>Tat	p.H262Y		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	262					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGGAGAATGCATACCAAGAT	0.507000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	44					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31551284	31551284	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:31551284C>T	uc001rkh.1	-	18	3337	c.3186G>A	c.(3184-3186)ggG>ggA	p.G1062G	DENND5B_uc001rki.1_Silent_p.G1027G	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1027						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAGCCACCGCCCACATGGGA	0.453000													7	13					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69364300	69364300	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:69364300G>A	uc003tvw.4	+	1	1073	c.338G>A	c.(337-339)cGt>cAt	p.R113H	AUTS2_uc003tvv.4_Missense_Mutation_p.R113H|AUTS2_uc003tvx.4_Missense_Mutation_p.R113H	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	113								p.R113L(2)|p.R113C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTCAGGAACGTGTGGAGAAA	0.473000													17	84					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845991	151845991	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:151845991C>A	uc003wla.3	-	51	13240	c.13021G>T	c.(13021-13023)Ggg>Tgg	p.G4341W	MLL3_uc003wkz.3_Missense_Mutation_p.G3459W|MLL3_uc003wkx.3_Missense_Mutation_p.G499W|MLL3_uc003wky.3_Missense_Mutation_p.G1905W	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4341					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTTCAAACCCACCATGGACA	0.493000			N		medulloblastoma								18	58					7.41877e-09	7.84885e-09	1	1	0
KRT2	3849	broad.mit.edu	37	12	53045499	53045499	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:53045499G>C	uc001sat.3	-	0	461	c.428C>G	c.(427-429)cCt>cGt	p.P143R		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	143	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTATCCTCCAGGCCCAAAGCC	0.597000													32	60					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220164041	220164041	+	Missense_Mutation	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:220164041A>T	uc002vkz.3	-	10	1830	c.1589T>A	c.(1588-1590)gTg>gAg	p.V530E	PTPRN_uc010zlc.2_Missense_Mutation_p.V440E|PTPRN_uc002vla.3_Missense_Mutation_p.V501E	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	530					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TTGTTGGGTCACATCAGCCAA	0.557000											OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	64					0	0	1	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612984	177612984	+	Silent	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:177612984T>C	uc003mit.1	-	0	1450	c.1317A>G	c.(1315-1317)ccA>ccG	p.P439P						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		ACCCGCTGCGTGGCTGATTCA	0.413000													3	40					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415217	121415217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:121415217G>A	uc010hrc.3	-	12	4279	c.4153C>T	c.(4153-4155)Caa>Taa	p.Q1385*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.Q1380*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.Q1346*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.Q1305*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.Q1266*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.Q1344*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1380					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAGCAATTTGTAGTTGGCTG	0.413000													10	36					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75509414	75509414	+	Missense_Mutation	SNP	G	G	C	rs145750206	byFrequency	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:75509414G>C	uc001oxa.3	+	6	1211	c.952G>C	c.(952-954)Ggc>Cgc	p.G318R	DGAT2_uc001oxb.3_Missense_Mutation_p.G275R	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	318					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCATGGTCGAGGCCTCTTCTC	0.582000													25	53					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170667495	170667495	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:170667495A>C	uc002ufk.3	+	9	1112	c.938A>C	c.(937-939)gAa>gCa	p.E313A	SSB_uc002ufm.3_Missense_Mutation_p.E313A	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	313					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGGAAAAAGAAGCACTGAAG	0.348000													27	65					0	0	1	0	0
C20orf62	140834	broad.mit.edu	37	20	43093838	43093838	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:43093838C>A	uc002xmb.3	-	0	147	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C						RecName: Full=Uncharacterized protein C20orf62;											lung(1)	1						tgccagccaccctgtgggtga	0.493000													47	88					4.88506e-25	5.44441e-25	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36143779	36143779	+	Silent	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:36143779A>C	uc001wtj.3	-	21	3634	c.3243T>G	c.(3241-3243)ccT>ccG	p.P1081P	RALGAPA1_uc010amp.3_5'Flank|RALGAPA1_uc001wti.3_Silent_p.P1081P|RALGAPA1_uc010tpv.2_Silent_p.P1094P|RALGAPA1_uc010tpw.1_Silent_p.P1128P	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1081					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGTATTTCAGGATCCATGA	0.388000													45	59					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55317995	55317995	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:55317995A>C	uc001cyc.1	-	8	1591	c.1462T>G	c.(1462-1464)Tcc>Gcc	p.S488A	DHCR24_uc010ooi.1_Missense_Mutation_p.S131A|DHCR24_uc010ooj.1_Missense_Mutation_p.S302A|DHCR24_uc010ook.1_Missense_Mutation_p.S447A	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	488					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGGTACAAGGAGCCATCAAAC	0.597000													3	71					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950499	27950499	+	Silent	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr9:27950499G>A	uc003zqv.1	-	6	821	c.171C>T	c.(169-171)atC>atT	p.I57I	LINGO2_uc010mjf.1_Silent_p.I57I|LINGO2_uc003zqu.1_Silent_p.I57I|LINGO2_uc022bfc.1_Silent_p.I57I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	57	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTTTGGTTTCGATGGGAATGC	0.488000													45	105					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:60895706A>C	uc002ycq.3	-	49	6735	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R	LAMA5_uc021wfw.1_Missense_Mutation_p.L2223R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2223	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L2223R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGGGCCCAGGGGGCTCCG	0.706000													4	38					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332130	70332130	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:70332130T>C	uc001jok.4	+	1	540	c.35T>C	c.(34-36)tTa>tCa	p.L12S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	12					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTTCCAGATTAGTCAGGAAG	0.433000													23	44					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137982982	137982982	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:137982982C>T	uc003esa.1	+	14	1552	c.1185C>T	c.(1183-1185)caC>caT	p.H395H	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.H378H|ARMC8_uc011bmg.1_Silent_p.H342H|ARMC8_uc011bmh.1_Silent_p.H336H|ARMC8_uc003esb.1_Silent_p.H367H|ARMC8_uc003esc.1_Silent_p.H167H|ARMC8_uc003esf.1_5'UTR	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	409							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GATGTTTGCACAGTTTATCCA	0.368000													18	42					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283573	159283573	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:159283573C>T	uc010piu.2	-	0	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCTTGTTCTTCAGGCTGTACA	0.493000													4	140					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652539	84652539	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:84652539C>T	uc002son.3	-	8	1207	c.1014_splice	c.e8+1	p.K338_splice		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	338					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGGAGCTCACCTTGTAGATCG	0.532000													24	63					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	95976177	95976177	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:95976177C>T	uc002sup.3	+	1	205	c.90C>T	c.(88-90)atC>atT	p.I30I	KCNIP3_uc002suo.1_Silent_p.I30I	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	30					apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		AGGAGGGTATCAAGTGGCAGA	0.627000													79	193					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53298675	53298675	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:53298675A>C	uc009zmk.1	-	1	195	c.175T>G	c.(175-177)Tcc>Gcc	p.S59A	KRT8_uc001sbd.2_Missense_Mutation_p.S31A|KRT8_uc009zml.1_Missense_Mutation_p.S31A|KRT8_uc009zmm.1_Missense_Mutation_p.S31A	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	31	Head.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	p.S31A(4)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATGCGGGAACCGGGCCCA	0.662000													4	59					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72873963	72873963	+	Missense_Mutation	SNP	A	A	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:72873963A>G	uc003tyc.3	-	12	3687	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1112					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGAGCCATGAAGCCTTGGAG	0.398000													33	19					0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535707	90535707	+	Silent	SNP	G	G	A	rs143264409	by1000genomes	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr9:90535707G>A	uc010mqi.3	+	3	914	c.885G>A	c.(883-885)tcG>tcA	p.S295S	FAM75C1_uc004apq.4_Silent_p.S278S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCTCCTGGTCGCAGGAGACTA	0.547000													4	150					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696605	68696605	+	Silent	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:68696605T>A	uc001stz.2	-	11	1903	c.1767A>T	c.(1765-1767)atA>atT	p.I589I	MDM1_uc009zqv.1_Silent_p.I309I|MDM1_uc010stc.1_Silent_p.I554I	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	589						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAACTGTTTTTATACCAGCAG	0.358000													4	18					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7127679	7127679	+	Silent	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:7127679T>C	uc002gev.3	+	15	1723	c.1572T>C	c.(1570-1572)ctT>ctC	p.L524L	ACADVL_uc010vtp.2_Silent_p.L534L|ACADVL_uc002gew.3_Silent_p.L502L|ACADVL_uc002gex.3_Silent_p.L448L|MIR324_uc002gey.2_5'Flank	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	524					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCAGCGGACTTGTCCACCCGG	0.657000													40	50					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62334912	62334912	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:62334912A>C	uc001ntm.1	-	5	757	c.611T>G	c.(610-612)tTg>tGg	p.L204W	EEF1G_uc010rlw.1_Missense_Mutation_p.L254W	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	204	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACTTCGCCCAAGACAGCCCG	0.552000													28	50					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Missense_Mutation	SNP	C	C	G	rs76774128		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:55039411C>G	uc003pcl.3	+	0	341	c.26C>G	c.(25-27)tCc>tGc	p.S9C	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567000													34	64					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:186334930T>C	uc003ixo.2	-	6	898	c.781A>G	c.(781-783)Att>Gtt	p.I261V	UFSP2_uc003ixq.2_Missense_Mutation_p.I151V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	261						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363000													32	71					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	A	rs140169027		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:101882763G>A	uc003uys.4	+	22	3946	c.3819G>A	c.(3817-3819)gcG>gcA	p.A1273A	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.A1262A	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1262					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAAACGAGCGTATCAGCAAA	0.597000													81	51					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65495764	65495764	+	Missense_Mutation	SNP	C	C	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr15:65495764C>G	uc002aon.2	-	6	1145	c.964G>C	c.(964-966)Gct>Cct	p.A322P		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	322	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCTGCCCAGCTCTCCGTGCT	0.498000													17	54					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105928500	105928500	+	Splice_Site	SNP	A	A	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr10:105928500A>T	uc001kxw.3	-	21	2807	c.2691_splice	c.e21+1	p.K897_splice	WDR96_uc009xxq.3_Splice_Site_p.K205_splice|WDR96_uc001kxx.4_Splice_Site_p.K898_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	897										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTATCTGTTACCTTAAGAGC	0.363000													3	12					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125164	126125164	+	Missense_Mutation	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr9:126125164C>T	uc004bnx.1	+	1	207	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	CRB2_uc004bnw.1_Missense_Mutation_p.P39S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	39						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTCAGAGCCCCCCAGTGCCTG	0.652000													23	33					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33622951	33622951	+	Silent	SNP	G	G	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:33622951G>T	uc002xbk.3	-	7	1060	c.1026C>A	c.(1024-1026)gcC>gcA	p.A342A	TRPC4AP_uc010zuq.2_5'UTR|TRPC4AP_uc010zur.2_Silent_p.A303A|TRPC4AP_uc002xbl.3_Silent_p.A342A|TRPC4AP_uc002xbm.1_Silent_p.A342A	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	342	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACTCCTCATTGGCCACTCGCA	0.537000													42	55					5.57489e-27	6.26103e-27	1	1	0
KIFC2	90990	broad.mit.edu	37	8	145694989	145694989	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr8:145694989C>A	uc003zcz.3	+	11	1404	c.1339C>A	c.(1339-1341)Cgc>Agc	p.R447S	KIFC2_uc003zda.3_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	447	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGTCGATTCCGCCTAGACTG	0.627000													19	19					1.64113e-05	1.71147e-05	1	1	0
DZANK1	55184	broad.mit.edu	37	20	18414380	18414380	+	Silent	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:18414380C>T	uc010zsa.2	-	8	1043	c.834G>A	c.(832-834)ttG>ttA	p.L278L	DZANK1_uc002wqp.4_Silent_p.L10L|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Silent_p.L145L|DZANK1_uc002wqq.4_Silent_p.L259L|DZANK1_uc002wqu.1_Non-coding_Transcript|DZANK1_uc010gct.1_Non-coding_Transcript	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	86						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCATGGGTACCAAGCTTCTGC	0.458000													11	39					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33002960	33002960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:33002960G>A	uc002rom.3	+	13	1965	c.1692G>A	c.(1690-1692)tgG>tgA	p.W564*	TTC27_uc010ymx.2_Nonsense_Mutation_p.W514*	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	564							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCGGGGTGTGGTTTTCTCTCG	0.403000													28	55					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465102	241465102	+	Splice_Site	SNP	C	C	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:241465102C>T	uc010fzd.1	-	7	1460	c.1335_splice	c.e7+1	p.Q445_splice	ANKMY1_uc002vzb.1_Splice_Site_p.Q215_splice|ANKMY1_uc002vzc.1_Splice_Site_p.Q215_splice|ANKMY1_uc002vyz.1_Splice_Site_p.Q356_splice|ANKMY1_uc002vza.1_Splice_Site_p.Q215_splice|ANKMY1_uc002vzd.1_Splice_Site_p.Q215_splice|ANKMY1_uc010fze.2_Splice_Site_p.Q25_splice|ANKMY1_uc002vze.3_Splice_Site_p.Q117_splice	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	356							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGGGCTTACCTGGGGCTCAG	0.587000													37	64					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583229	119583229	+	Missense_Mutation	SNP	C	C	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:119583229C>A	uc001txa.2	+	8	1203	c.815C>A	c.(814-816)gCc>gAc	p.A272D		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	272	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACCAAAACAGCCAGCCCGCTC	0.597000													19	52					5.68826e-28	6.43788e-28	1	1	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:17375399G>C	uc011jxz.1	+	8	1762	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(4)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													30	24					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3363138	3363138	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr16:3363138T>A	uc002cut.4	+	3	589	c.63T>A	c.(61-63)gaT>gaA	p.D21E	ZNF75A_uc002cuv.4_Intron	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACAATGATGTAATGCAGG	0.408000													54	64					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797826	57797826	+	Missense_Mutation	SNP	A	A	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:57797826A>C	uc003hch.3	+	3	3149	c.2802A>C	c.(2800-2802)ttA>ttC	p.L934F	REST_uc003hci.3_Missense_Mutation_p.L934F|REST_uc010ihf.3_Missense_Mutation_p.L608F	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	934					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTGAAACTTTAAATGGTAAAC	0.393000													33	52					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33813426	33813426	+	Silent	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:33813426T>C	uc002rpa.1	-	3	572	c.498A>G	c.(496-498)caA>caG	p.Q166Q	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.Q43Q	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	166										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGCTGAAGAATTGGAACATAG	0.363000													21	26					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297916	62297916	+	Missense_Mutation	SNP	T	T	C			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr11:62297916T>C	uc001ntl.3	-	4	4273	c.3973A>G	c.(3973-3975)Atg>Gtg	p.M1325V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1325					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCAGGCATGGAGATCTTG	0.507000													54	103					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31526116	31526116	+	Missense_Mutation	SNP	G	G	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:31526116G>A	uc003nub.3	+	3	993	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	NFKBIL1_uc011dnr.2_Missense_Mutation_p.G254S|NFKBIL1_uc011dns.2_Missense_Mutation_p.G269S|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Missense_Mutation_p.G277S	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	292					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGCGGGGAGGGGCAGCCTCTG	0.711000													19	37					0	0	1	0	0
BC132948	0	broad.mit.edu	37	2	240500560	240500560	+	Silent	SNP	T	T	C	rs115567488	by1000genomes	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr2:240500560T>C	uc002vym.1	+	0	566	c.441T>C	c.(439-441)atT>atC	p.I147I						SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ45964 fis, clone PLACE7014396;																		tgggttcaattaagaaggtta	0.478000													4	65					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256491	115256491	+	Missense_Mutation	SNP	T	T	A			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:115256491T>A	uc009wgu.3	-	2	474	c.220A>T	c.(220-222)Aca>Tca	p.T74S		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	74					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCGCCTGTCCTCATGTAT	0.418000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			22	33					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035881	108035881	+	Missense_Mutation	SNP	T	T	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:108035881T>G	uc001tmk.1	+	13	3376	c.2855T>G	c.(2854-2856)cTc>cGc	p.L952R	BTBD11_uc001tmj.3_Missense_Mutation_p.L952R|BTBD11_uc001tml.1_Missense_Mutation_p.L489R|BTBD11_uc001tmm.1_Missense_Mutation_p.L31R	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	952	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAAGCACTCCTCTCCAGCAAG	0.458000													15	43					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169469096	169469096	+	Missense_Mutation	SNP	C	C	T	rs145873210	byFrequency	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:169469096C>T	uc003maf.3	+	37	3916	c.3836C>T	c.(3835-3837)aCg>aTg	p.T1279M	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T771M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1279	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAAGGAGACGCTCTACGAG	0.577000													7	281					0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169390718	169390718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr1:169390718delA	uc001gga.1	-	2	1119	c.951delT	c.(949-951)tctfs	p.S317fs	C1orf114_uc001gfz.1_Frame_Shift_Del_p.S317fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.S317fs|C1orf114_uc001ggb.3_Frame_Shift_Del_p.S317fs|C1orf114_uc001ggc.1_Frame_Shift_Del_p.S317fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	317										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCCTGTGATTAGATTTCCCAT	0.463													35	44	---	---	---	---					
ROBO1	6091	broad.mit.edu	37	3	79639003	79639003	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr3:79639003delT	uc003dqe.2	-	1	267	c.59delA	c.(58-60)aatfs	p.N20fs		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	20					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAACAGGTGATTTGGGGATAA	0.393													11	154	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr4:4228274_4228282delCCACAGCAG	uc003ghp.1	-	0	340_348	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(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)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													9	37	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67588157	67588158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr5:67588157_67588158insG	uc003jva.3	+	7	1567_1568	c.987_988insG	c.(985-990)caagatfs	p.Q329fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.Q29fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.Q59fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.Q8fs|PIK3R1_uc021xzn.1_5'Flank|PIK3R1_uc011crb.2_5'Flank	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	329					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGTCCTTACAAGATGCTGAATG	0.396			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			24	32	---	---	---	---					
RSPH3	83861	broad.mit.edu	37	6	159398820	159398821	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr6:159398820_159398821delTG	uc003qrx.3	-	7	1622_1623	c.1432_1433delCA	c.(1432-1434)catfs	p.H478fs	RSPH3_uc010kju.3_Frame_Shift_Del_p.H382fs	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	478								p.T477I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGAGACTGATGTGTGTCTTCC	0.480													23	54	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11486930	11486931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:11486930_11486931insT	uc021zzo.1	-	11	2978_2979	c.2726_2727insA	c.(2725-2727)ttgfs	p.L909fs	THSD7A_uc021zzn.1_Frame_Shift_Ins_p.L909fs	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	909	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCAGCTGGTCAATTGACAGTC	0.530										HNSCC(18;0.044)			84	80	---	---	---	---					
MLL3	58508	broad.mit.edu	37	7	151873882	151873883	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr7:151873882_151873883delTT	uc003wla.3	-	37	8874_8875	c.8655_8656delAA	c.(8653-8658)gaaactfs	p.E2885fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.E1946fs|MLL3_uc003wky.3_Frame_Shift_Del_p.E394fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2885					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGCCAGCAGTTTCTCGATTGG	0.441			N		medulloblastoma								98	68	---	---	---	---					
SLC7A13	157724	broad.mit.edu	37	8	87235298	87235298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr8:87235298delT	uc003ydq.1	-	1	818	c.720delA	c.(718-720)aaafs	p.K240fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.K231fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	240						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TAAATATGCATTTGGGAATTG	0.363													16	39	---	---	---	---					
KIAA0368	23392	broad.mit.edu	37	9	114125936	114125936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr9:114125936delT	uc004bfe.1	-	49	5846	c.5846delA	c.(5845-5847)aatfs	p.N1949fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GTAGGTCTTATTTTCTAAAAA	0.358													4	7	---	---	---	---					
KLRC2	3822	broad.mit.edu	37	12	10573086	10573086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:10573086delT	uc001qyi.1	-	0	109	c.64delA	c.(64-66)aggfs	p.R22fs	KLRC2_uc001qyf.3_Frame_Shift_Del_p.R22fs|KLRC2_uc021qvc.1_Frame_Shift_Del_p.R22fs|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Frame_Shift_Del_p.R22fs	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	22					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTAGGTTTCCTTTGCTGCCAC	0.438													11	31	---	---	---	---					
KLRC2	3822	broad.mit.edu	37	12	10588522	10588522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr12:10588522delT	uc001qyh.3	-	0	71	c.64delA	c.(64-66)aggfs	p.R22fs	KLRC2_uc010she.1_Frame_Shift_Del_p.R22fs|KLRC2_uc001qyk.2_Frame_Shift_Del_p.R22fs	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	22					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTAGGTTTCCTTTGCTGCCGC	0.438													34	115	---	---	---	---					
TTLL5	23093	broad.mit.edu	37	14	76243163	76243163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr14:76243163delA	uc010ask.2	+	23	2674	c.2399delA	c.(2398-2400)gaafs	p.E800fs	TTLL5_uc001xrx.3_Frame_Shift_Del_p.E786fs|TTLL5_uc001xrz.3_Frame_Shift_Del_p.E361fs|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	786					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGAATATGGAAAACTTTCAG	0.403													21	77	---	---	---	---					
LOC81691	81691	broad.mit.edu	37	16	20851720	20851720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr16:20851720delG	uc002dhy.4	+	14	1931	c.1556delG	c.(1555-1557)aggfs	p.R519fs	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Frame_Shift_Del_p.R519fs|LOC81691_uc002dhx.3_Frame_Shift_Del_p.R519fs	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	519	RRM 1.					nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TGCAATCTCAGGGCTCTGAAG	0.408													34	36	---	---	---	---					
KRTAP4-5	85289	broad.mit.edu	37	17	39305911	39305912	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCCT	rs141058010		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr17:39305911_39305912insGCAGCAGGTGGTCCT	uc002hwb.3	-	0	143_144	c.108_109insAGGACCACCTGCTGC	c.(106-111)insAGGACCACCTGCTGC	p.36_37insRTTCC		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	36	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.R37L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTGG	0.658													33	70	---	---	---	---					
SIRT6	51548	broad.mit.edu	37	19	4175089	4175090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:4175089_4175090insG	uc002lzo.3	-	6	733_734	c.673_674insC	c.(673-675)ctgfs	p.L225fs	SIRT6_uc002lzq.3_Frame_Shift_Ins_p.L198fs|SIRT6_uc002lzp.3_Frame_Shift_Ins_p.T150fs|SIRT6_uc010xid.2_Frame_Shift_Ins_p.L153fs|SIRT6_uc002lzr.3_Frame_Shift_Ins_p.L126fs	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA.	225	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCAGCGGCAGGTTCCCGCTG	0.688													7	159	---	---	---	---					
HOOK2	29911	broad.mit.edu	37	19	12874398	12874398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:12874398delT	uc002muy.2	-	21	2125	c.1954delA	c.(1954-1956)agcfs	p.S652fs	HOOK2_uc002muz.2_Frame_Shift_Del_p.S650fs	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	652	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGACTTCGGCTTTTCTCAAAG	0.522													40	78	---	---	---	---					
NUP62	23636	broad.mit.edu	37	19	50411616	50411633	+	In_Frame_Del	DEL	GTCCATGTGCGCATTGAG	GTCCATGTGCGCATTGAG	-	rs139913264		TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:50411616_50411633delGTCCATGTGCGCATTGAG	uc002prb.3	-	1	1676_1693	c.1432_1449delCTCAATGCGCACATGGAC	c.(1432-1449)ctcaatgcgcacatggacdel	p.LNAHMD478del	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_In_Frame_Del_p.LNAHMD478del|NUP62_uc002pqy.3_In_Frame_Del_p.LNAHMD478del|NUP62_uc002pra.3_In_Frame_Del_p.LNAHMD478del|NUP62_uc002pqz.3_In_Frame_Del_p.LNAHMD478del|NUP62_uc002prc.3_In_Frame_Del_p.LNAHMD402del|NUP62_uc021uya.1_In_Frame_Del_p.LNAHMD478del	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	478					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.A480A(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACTGCAGTGAGTCCATGTGCGCATTGAGGATCTTGCAG	0.628													17	45	---	---	---	---					
PRKCG	5582	broad.mit.edu	37	19	54401854	54401854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr19:54401854delC	uc002qcq.1	+	10	1535	c.1253delC	c.(1252-1254)accfs	p.T418fs	PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Frame_Shift_Del_p.T418fs|PRKCG_uc010yeh.1_Frame_Shift_Del_p.T305fs	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	418	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CACTTCCTCACCCAGCTCCAC	0.662													28	43	---	---	---	---					
BPIFA1	51297	broad.mit.edu	37	20	31829269	31829269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr20:31829269delG	uc002wyt.4	+	5	730	c.660delG	c.(658-660)cagfs	p.Q220fs	BPIFA1_uc002wyu.4_Frame_Shift_Del_p.Q220fs|BPIFA1_uc002wyv.3_Frame_Shift_Del_p.Q220fs	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	220				Q -> K (in Ref. 1; AAF70860).	innate immune response	extracellular region	lipid binding										AGTTGGTTCAGGGCAACGTAA	0.512													21	64	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs66577617	by1000genomes	TCGA-P4-A5E7-01A-31D-A28G-10	TCGA-P4-A5E7-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b75f116-8565-4b91-8bbe-c053a72fad8c	4106b575-287e-4493-8e74-2a72b1b94591	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	uc002zto.3	+	7	754	c.651_splice	c.e7+1	p.E217_splice	LZTR1_uc002ztn.3_Splice_Site_p.E176_splice|LZTR1_uc011ahy.2_Splice_Site_p.E198_splice|LZTR1_uc010gsr.1_Splice_Site_p.E88_splice	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	217					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662													9	28	---	---	---	---					
