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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													8	474					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000564288.1	+	30	4665	c.3888G>A	c.(3886-3888)atG>atA	p.M1296I	MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301				TA -> LP (in Ref. 4; AAL39000).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512000													18	157					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127327253	127327253	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:127327253G>A	ENST00000265056.7	+	7	1374	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	377					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAGCGTATCCGAATCCAGGAG	0.577000													6	835					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000380382.1	-	1	900	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	OR52R1_ENST00000356069.2_Missense_Mutation_p.V222M|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473000													5	234					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383000													5	490					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483000													29	209					1.08312e-15	1.17224e-15	1	1	0
IGLV2-14	0	broad.mit.edu	37	22	23101570	23101570	+	RNA	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:23101570G>A	ENST00000390312.2	+	0	265																											GTCAGTAATCGGCCCTCAGGG	0.532000													7	932					0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226555	29226555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:29226555G>A	ENST00000581216.1	-	4	1336	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	239					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GATGAGTTCTGAATGGAAAGT	0.348000													93	562					0	0	1	0	0
NBR2	0	broad.mit.edu	37	17	41290990	41290990	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290990C>A	ENST00000460115.1	+	0	490					NR_003108.1																						caaccttcaccacctctagcc	0.458000													32	220					2.80507e-11	3.01678e-11	1	1	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				4	115					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1																						TGTAAGTAAAATTCACTTTGG	0.323000													6	66					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905776	132905776	+	Silent	SNP	A	A	G	rs16848773	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:132905776A>G	ENST00000409867.1	-	6	954	c.705T>C	c.(703-705)gaT>gaC	p.D235D	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GTGCAGCCTCATCAGGTGTTC	0.433000													4	105					0	0	1	0	0
PCDHGB7	0	broad.mit.edu	37	5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473000													8	165					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678769	138678769	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000520602.1	-	22	2681	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000370576.4_Missense_Mutation_p.R739H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383000													73	364					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53855284G>A	ENST00000458035.1	+	4	1473	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000595091.1_Silent_p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398000													6	394					0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24779887	24779887	+	Translation_Start_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662000													9	239					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832475	4832475	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597000													18	151					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116801	53116801	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53116801G>A	ENST00000597597.1	-	2	3270	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H339H			P51522	ZNF83_HUMAN	zinc finger protein 83	339						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418000													8	707					0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3193873	3193873	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000455664.1_Splice_Site|ITPA_ENST00000399838.3_Intron	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)						nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403000													6	554					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284369	152284369	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152284369G>C	ENST00000368799.1	-	3	3028	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S998Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGCAGAGTGCCCGTG	0.562000									Ichthyosis				8	1500					0	0	1	0	0
UBE2G2	7327	broad.mit.edu	37	21	46191357	46191357	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46191357G>A	ENST00000345496.2	-	6	703	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C|UBE2G2_ENST00000477954.1_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	145					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CGGTCATCGCGCCACATTTTG	0.532000													6	765					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs147652902		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493000													101	426					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													5	235					0.00307968	0.00309779	1	1	0
DOCK1	1793	broad.mit.edu	37	10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587000													34	135					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1003	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408000													115	368					7.44014e-76	8.37016e-76	1	1	0
STAG2	10735	broad.mit.edu	37	X	123181240	123181240	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q			Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328000													8	430					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23114047	23114047	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517000													6	822					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024466	71024466	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:71024466C>T	ENST00000344526.5	+	3	686	c.497C>T	c.(496-498)gCt>gTt	p.A166V	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A166V	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	166	Ala-rich.					extracellular region		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTGTTGGAGCTGAGCCTGCT	0.632000													18	116					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000586018.1	+	8	3442	c.3340C>T	c.(3340-3342)Ccg>Tcg	p.P1114S	CILP2_ENST00000291495.4_Missense_Mutation_p.P1108S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657000													11	69					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175073	11175073	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:11175073A>T	ENST00000390673.2	-	1	146	c.98T>A	c.(97-99)aTt>aAt	p.I33N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	33					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AACCCAGTCAATGACATTTAC	0.413000													7	297					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	570					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702206	23702206	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:23702206G>C	ENST00000256797.4	-	22	3039	c.2871C>G	c.(2869-2871)taC>taG	p.Y957*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	909					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCGGGTAGTAGGGCAGGA	0.632000													26	157					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589059	205589059	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:205589059A>C	ENST00000289703.4	-	3	1454	c.1115T>G	c.(1114-1116)cTt>cGt	p.L372R	ELK4_ENST00000357992.4_Intron	NM_021795.2	NP_068567.1			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATAAATGAAAGCAATGGTGA	0.408000			T	SLC45A3	prostate								42	159					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	219					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502000													6	831					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													10	934					1.08611e-07	1.14645e-07	1	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													6	381					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124385955	124385955	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:124385955G>A	ENST00000360013.3	+	47	6752	c.6625G>A	c.(6625-6627)Gcc>Acc	p.A2209T	KALRN_ENST00000291478.4_Missense_Mutation_p.A512T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2208	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCAAGCCGCCAACGCTGA	0.507000													5	300					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71588247	71588247	+	Translation_Start_Site	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:71588247T>A	ENST00000226328.4	+	0	520				RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tgtgtgtgagtgtgtgtgtgt	0.478000													4	140					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	140					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612000													5	359					0.00116845	0.00118227	1	1	0
MUC17	140453	broad.mit.edu	37	7	100676777	100676777	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:100676777C>T	ENST00000306151.4	+	3	2144	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	694	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P694S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAAGTATGCCTGTCAACAC	0.493000													9	1788					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													13	302					0	0	1	0	0
CLCN4	0	broad.mit.edu	37	X	10188809	10188809	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:10188809G>A	ENST00000380833.4	+	12	2475	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	695						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCTGCGGCGCATCCTGAAC	0.592000													7	859					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517000													9	1279					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335649	57335649	+	Translation_Start_Site	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:57335649C>A	ENST00000598410.1	-	0	378				PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|ZIM2_ENST00000391708.3_De_novo_Start_OutOfFrame|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame	NM_001146185.1|NM_001146187.1	NP_001139657.1|NP_001139659.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTACATCTCCTTGTAATTCT	0.547000													74	315					9.59524e-27	1.05179e-26	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261367.7	+	12	3631	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P688S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547000													45	198					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000550584.2	-	9	1295	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	260										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308000													21	252					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													5	208					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													11	799					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000003912.3	+	9	1136	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.V223M			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557000													9	1270					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19418734	19418734	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:19418734G>A	ENST00000338883.4	-	14	1891	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	MAP3K15_ENST00000469203.2_Missense_Mutation_p.T463M|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.T66M	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	631							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGCTCCACCGTACTGCCTGC	0.448000													8	1518					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													6	218					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80651774	80651774	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:80651774T>A	ENST00000458043.2	+	17	1860	c.1854T>A	c.(1852-1854)gaT>gaA	p.D618E	OTOGL_ENST00000547103.1_Missense_Mutation_p.D618E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATAAGGGATGATTTTCTGT	0.308000													30	119					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDE4C_ENST00000262805.11_Missense_Mutation_p.T169M|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.T201M|PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000594617.2_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.2_Missense_Mutation_p.T95M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CTTCTGCCCCGTGTCCTCTGG	0.657000													25	110					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCTGCCAGTGGTCAAACAC	0.657000													11	51					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													7	134					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140223264	140223264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448000													41	199					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150890398	150890398	+	Missense_Mutation	SNP	C	C	T	rs144817068		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:150890398C>T	ENST00000370350.3	+	4	450	c.365C>T	c.(364-366)gCg>gTg	p.A122V		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGTGGCGCAGACTAGC	0.547000													6	900					0	0	1	0	0
MREG	55686	broad.mit.edu	37	2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438000													5	371					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													5	313					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308000													14	193					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463000													6	948					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632000													44	219					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													5	289					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													5	190					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29347038	29347038	+	Splice_Site	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951_splice	c.e5+1	p.Q317_splice	APBA2_ENST00000411764.1_Splice_Site_p.Q317_splice|APBA2_ENST00000558259.1_Splice_Site_p.Q317_splice|APBA2_ENST00000561069.1_Splice_Site_p.Q317_splice|APBA2_ENST00000558330.1_Splice_Site_p.Q317_splice			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657000													10	68					1.08611e-07	1.14645e-07	1	1	0
FZD10	11211	broad.mit.edu	37	12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000539839.1	+	1	1661	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FZD10_ENST00000229030.4_Missense_Mutation_p.A393T	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657000													52	266					0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602000													11	361					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													6	962					0	0	1	0	0
FAM13B	0	broad.mit.edu	37	5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313000													74	412					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752352	82752352	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:82752352C>T	ENST00000248306.3	+	1	77	c.8C>T	c.(7-9)gCt>gTt	p.A3V	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GTCATGGCGGCTTCTTGCCCT	0.637000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	118					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238853	31238853	+	Missense_Mutation	SNP	C	C	T	rs17849598		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:31238853C>T	ENST00000383329.3	-	3	630	c.616G>A	c.(616-618)Gca>Aca	p.A206T	HLA-C_ENST00000376228.5_Missense_Mutation_p.A206T			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	206	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGTACCTGCGCGCTGCAGC	0.647000													6	296					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024467	71024467	+	Silent	SNP	T	T	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:71024467T>G	ENST00000344526.5	+	3	687	c.498T>G	c.(496-498)gcT>gcG	p.A166A	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.A166A	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	166	Ala-rich.					extracellular region		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGTTGGAGCTGAGCCTGCTG	0.627000													16	122					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000457206.1	-	3	1191	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A255V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1.				intracellular signal transduction		metal ion binding	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448000													6	558					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351251	134351251	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:134351251C>T	ENST00000357304.4	+	15	3790	c.3735C>T	c.(3733-3735)tgC>tgT	p.C1245C	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1245							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGACACATGCGGATCCCGGC	0.592000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16884049	16884049	+	Silent	SNP	C	C	T	rs144961672	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000524140.2	+	11	2941	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000552788.1_Silent_p.C841C|NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000339803.6_Silent_p.C706C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622000													6	270					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766129	27766129	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:27766129A>G	ENST00000451261.2	+	5	1516	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GTATACAATTACTGTGAATCC	0.403000													34	166					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269201	30269201	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488000													20	86					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													4	90					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413000													6	467					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	rs151168975	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAGTCAACGGTTGCAGGA	0.368000													5	252					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94658986	94658986	+	Silent	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000547057.1_Silent_p.P241P|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453000													131	681					2.47456e-63	2.76569e-63	1	1	0
DERL1	79139	broad.mit.edu	37	8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627000													6	397					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547000													7	547					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													6	583					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	230					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													9	717					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393000													109	525					7.81258e-50	8.67501e-50	1	1	0
PRDM13	59336	broad.mit.edu	37	6	100061933	100061933	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369214.1	+	4	1713	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	PRDM13_ENST00000369215.4_Silent_p.P474P	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632000													50	197					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													6	567					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:164467285C>T	ENST00000333129.3	-	3	1371	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	353						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTGTTGTCGGGCATTCTG	0.448000													81	382					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028585	37028585	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647000													6	641					0	0	1	0	0
AVP	551	broad.mit.edu	37	20	3065264	3065264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in ADNDI; probably causes insufficient processing of precursor).|A -> V (in ADNDI).		cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637000													123	593					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													10	1617					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337198	64337198	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64337198G>A	ENST00000301891.4	+	9	1831	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	486					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGATGAGCCGCCAAGCCCTG	0.612000													6	451					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79668316	79668316	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3656_splice	c.e32-1	p.R1220_splice	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328000													6	382					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													5	66					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													5	128					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000334192.4_Missense_Mutation_p.A591T|EML1_ENST00000327921.9_Missense_Mutation_p.A560T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453000													24	100					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			30	186					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													9	137					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577000													5	378					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	121					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143033802	143033802	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368000													91	449					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													7	177					0	0	1	0	0
PRAF2	11230	broad.mit.edu	37	X	48931491	48931491	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PRAF2_ENST00000376386.3_Silent_p.F52F|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1			PRA1 domain family, member 2											endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657000													61	201					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													7	285					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572000													6	273					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													16	213					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49360058	49360058	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642000													37	149					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424096	125424096	+	Silent	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493000													63	270					7.10676e-39	7.84036e-39	1	1	0
NBR2	0	broad.mit.edu	37	17	41291032	41291032	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41291032C>A	ENST00000460115.1	+	0	490					NR_003108.1																						tgcctatatacaacccctttt	0.448000													10	106					4.68919e-08	5.01157e-08	1	1	0
PMS2P3	0	broad.mit.edu	37	7	75140295	75140295	+	RNA	SNP	C	C	T	rs2599334		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:75140295C>T	ENST00000418756.1	-	0	1332					NR_028059.1															lung(1)	1						GCACAGGTAGCGTAGAAAATA	0.438000													5	502					0	0	1	0	0
RP11-257K9.8	0	broad.mit.edu	37	6	73935126	73935126	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:73935126G>T	ENST00000423730.3	-	4	749	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	KHDC1L_ENST00000370388.3_Silent_p.A2A|KHDC1L_ENST00000471312.1_5'UTR																							TCGTTCCCACGGCCATGCTGT	0.532000													22	126					1.5548e-18	1.69344e-18	1	1	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557000													6	463					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGAAGCTGATCAATATGGATG	0.318000									Multiple Glomus Tumors (of the Skin), Familial				5	631					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602000													7	276					0.000157383	0.000160194	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	126					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma								5	255					0	0	1	0	0
NBR2	0	broad.mit.edu	37	17	41290972	41290972	+	RNA	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290972C>T	ENST00000460115.1	+	0	490					NR_003108.1																						ggtacaaccccctccccacaa	0.468000													45	281					0	0	1	0	0
TOR1A	1861	broad.mit.edu	37	9	132584984	132584984	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:132584984C>T	ENST00000351698.4	-	2	368	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	107					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.G107D(4)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468000													9	753					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762489	15762489	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:15762489G>A	ENST00000399451.2	-	8	1206	c.839C>T	c.(838-840)gCt>gTt	p.A280V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	280						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTTGATGCAGCAGCAAAGTG	0.373000													5	456					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662000													57	212					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8555136	8555153	+	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	ENST00000337907.3	-	11	1708_1725	c.1074_1091delGGATGACACCACTCTGAA	c.(1072-1092)cgt>cg	p.RDDTTLN358del	RERE_ENST00000400907.2_In_Frame_Del_p.RDDTTLN358del|RERE_ENST00000377464.1_In_Frame_Del_p.RDDTTLN90del|RERE_ENST00000400908.2_In_Frame_Del_p.RDDTTLN358del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	358	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTCAGTGCATTCAGAGTGGTGTCATCCCGAGAGGCTG	0.491													17	1054	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													13	866	---	---	---	---					
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	RNA	DEL	AG	AG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.500													4	9	---	---	---	---					
EIF2B3	8891	broad.mit.edu	37	1	45407181	45407182	+	Frame_Shift_Ins	INS	-	-	T	rs148977100		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:45407181_45407182insT	ENST00000360403.2	-	4	576_577	c.450_451insA	c.(448-453)aacagtfs	p.NS150fs	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.NS150fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTTACCTGCTTTTTTTTTCC	0.356													8	423	---	---	---	---					
ODF2L	57489	broad.mit.edu	37	1	86826141	86826142	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:86826141_86826142insT	ENST00000359242.3	-	12	1502_1503	c.1221_1222insA	c.(1219-1224)aaagaafs	p.E408fs	ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	408						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287													7	364	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													8	412	---	---	---	---					
SYCP1	6847	broad.mit.edu	37	1	115469134	115469134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:115469134delA	ENST00000369522.3	+	23	2116	c.1876delA	c.(1876-1878)aafs	p.K628fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	628					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TAAGGCCTTGAAAAAAAAAGG	0.264													7	182	---	---	---	---					
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579													9	364	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)del	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													16	998	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													8	24	---	---	---	---					
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:99778781delA	ENST00000393477.3	+	4	713	c.361delA	c.(361-363)aafs	p.K123fs	LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	123					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388													8	320	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	19	---	---	---	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)caa>ca	p.QQ439del	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													11	285	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)acc>a	p.KT726del	USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													10	631	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	T	-	rs11288337		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:49723112delT	ENST00000449682.2	-	11	1665	c.1304delA	c.(1303-1305)acfs	p.N435fs	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													8	262	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													8	1120	---	---	---	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A	rs150885877	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)tttfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													7	824	---	---	---	---					
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)del	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714													7	195	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccfs	p.P79fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													9	440	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(433-438)ggaaatfs	p.N146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351													7	153	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79336068	79336069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:79336068_79336069insT	ENST00000350881.2	+	2	447_448	c.257_258insT	c.(256-258)tttfs	p.F86fs	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	86	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AACAGTAAATATTTTGAATTTA	0.371													39	237	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													14	855	---	---	---	---					
CDKL3	51265	broad.mit.edu	37	5	133634348	133634349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:133634348_133634349insA	ENST00000265334.4	-	13	1890_1891	c.1772_1773insT	c.(1771-1773)ttgfs	p.L591fs	CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000536186.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	591						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACCT	0.356													7	586	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													8	183	---	---	---	---					
CAPN11	11131	broad.mit.edu	37	6	44140054	44140055	+	Frame_Shift_Ins	INS	-	-	GGCTGCC	rs140464205	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:44140054_44140055insGGCTGCC	ENST00000542245.1	+	5	463_464	c.425_426insGGCTGCC	c.(424-426)cgcfs	p.-142fs	CAPN11_ENST00000398776.1_Frame_Shift_Ins_p.-142fs			Q9UMQ6	CAN11_HUMAN	calpain 11						proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGCTGCTGGCTGCCATCG	0.584											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	17	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)ccfs	p.P969fs	SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473													7	831	---	---	---	---					
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aacfs	p.N83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.520													8	956	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72280990	72280991	+	RNA	DEL	AC	AC	-	rs6960315		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:72280990_72280991delAC	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										gtgtgtgtgtacgtgtgtgtgc	0.381													7	181	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	302	---	---	---	---					
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_016019.3	NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													7	103	---	---	---	---					
TRBV7-8	0	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88																											TAGTCATcatacacacacacac	0.441													8	234	---	---	---	---					
SGK223	0	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggccag>ggAGCGGCccag	p.350_351GQ>GAAQ	SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN		350							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													10	81	---	---	---	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:143310866_143310868delGAT	ENST00000524325.1	-	13	1691_1693	c.1516_1518delATC	c.(1516-1518)del	p.I506del	TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													8	331	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gag>ga	p.EL1155del		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1155	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616													7	619	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													9	311	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)cag>c	p.PQ2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	211	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	56077158	56077160	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:56077158_56077160delGTG	ENST00000373965.2	-	8	1141_1143	c.747_749delCAC	c.(745-750)act>ac	p.TT249del	PCDH15_ENST00000320301.6_In_Frame_Del_p.TT249del|PCDH15_ENST00000373955.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000437009.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395438.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000373957.3_In_Frame_Del_p.TT227del|PCDH15_ENST00000361849.3_In_Frame_Del_p.TT249del|PCDH15_ENST00000395446.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000414778.1_In_Frame_Del_p.TT254del|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395445.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395432.2_In_Frame_Del_p.TT212del|PCDH15_ENST00000395440.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395442.1_In_Frame_Del_p.TT249del|PCDH15_ENST00000395433.1_In_Frame_Del_p.TT227del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	249	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.T250N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGTGAGAGTGGTGGTGGTGG	0.463										HNSCC(58;0.16)			7	702	---	---	---	---					
HPSE2	60495	broad.mit.edu	37	10	100503755	100503755	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:100503755delA	ENST00000370552.3	-	4	728	c.669delT	c.(667-669)ttfs	p.F223fs	HPSE2_ENST00000370546.1_Frame_Shift_Del_p.F223fs|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	223					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTTAGAGCAAATATCAGGT	0.428													72	286	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													9	578	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													7	842	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000529259.1_3'UTR|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													17	692	---	---	---	---					
RP11-273B20.3	0	broad.mit.edu	37	12	7338794	7338794	+	RNA	DEL	G	G	-	rs34548221		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:7338794delG	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							cctgttgagaggggggactga	0.502													6	10	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:57674205_57674207delTGC	ENST00000402412.1	-	14	1668_1670	c.1278_1280delGCA	c.(1276-1281)caa>ca	p.QQ426del	R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													8	360	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													13	655	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	217	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													8	385	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													8	664	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													9	168	---	---	---	---					
RP11-909M7.3	0	broad.mit.edu	37	14	101440108	101440110	+	RNA	DEL	TAT	TAT	-	rs80236666		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:101440108_101440110delTAT	ENST00000554693.2	+	0	384																											ATTTTAGAAATATTATTGTAAAC	0.300													20	31	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													9	1241	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													12	163	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													7	247	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													7	321	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G	rs68130327		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:7578397_7578398insG	ENST00000420246.2	-	5	664_665	c.532_533insC	c.(532-534)ccafs	p.P178fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCTCATGGTGGGGGCAGCGC	0.644		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			58	201	---	---	---	---					
KRTAP9-1	0	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													8	107	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aaafs	p.K162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													7	629	---	---	---	---					
TCEB3C	162699	broad.mit.edu	37	18	44554927	44554928	+	Frame_Shift_Ins	INS	-	-	A	rs149635425		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:44554927_44554928insA	ENST00000330682.2	-	1	1521_1522	c.1286_1287insT	c.(1285-1287)ggtfs	p.G429fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	429	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGTGGTCACTACTCGCAGCCG	0.559													10	118	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000342988.3	+	11	1878_1905	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1339-1368)atfs	p.MQQQAATAQA447fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452													15	178	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													7	802	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)del	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													14	886	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													9	549	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													10	368	---	---	---	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)del	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													10	181	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													10	404	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:43221415_43221417delCTG	ENST00000422911.1	-	25	3681_3683	c.3580_3582delCAG	c.(3580-3582)del	p.Q1194del	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del			P57071	PRD15_HUMAN	PR domain containing 15	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													7	531	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)cgc>cCAGCTGCTGCGCCCCgc	p.48_49insPAAAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	48	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													10	269	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													7	421	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaa>ga	p.EE367del	RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													9	563	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													7	716	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													7	2533	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													7	1254	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													11	785	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													10	994	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													8	178	---	---	---	---