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
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577000													23	65					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32908535	32908535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:32908535C>A	ENST00000416244.2	-	1	244	c.50G>T	c.(49-51)gGa>gTa	p.G17V	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G49V|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G17V			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	17					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTTACCTGCTCCTGTGCAGCC	0.557000													11	18					3.07112e-06	3.18924e-06	1	1	0
MYO1C	4641	broad.mit.edu	37	17	1371366	1371366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:1371366G>A	ENST00000359786.5	-	28	3136	c.2812C>T	c.(2812-2814)Cgg>Tgg	p.R938W	MYO1C_ENST00000438665.2_Missense_Mutation_p.R919W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R903W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R914W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R903W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	938					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCAGCTGCCGGGAGCGAGGC	0.627000													28	78					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723328	142723328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142723328G>A	ENST00000350513.2	-	1	954	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R298G(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCCATCTCGGAGGGCCTCT	0.428000													80	251					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1																						TGTAAGTAAAATTCACTTTGG	0.323000													3	53					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906761	50906761	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:50906761C>T	ENST00000440232.2	+	10	1202	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	POLD1_ENST00000595904.1_Silent_p.T383T|POLD1_ENST00000599857.1_Silent_p.T383T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	383					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGGTCCACCTTCATCCGTA	0.597000								DNA polymerases (catalytic subunits)					6	372					0	0	1	0	0
KIR2DL4	0	broad.mit.edu	37	19	55325146	55325146	+	Splice_Site	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:55325146T>C	ENST00000396284.2	+	7	873	c.871_splice	c.e7-1	p.D291_splice	KIR2DL4_ENST00000396293.1_Splice_Site_p.D124_splice|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Splice_Site_p.M271_splice|KIR2DL4_ENST00000346587.4_Splice_Site_p.D141_splice|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Splice_Site_p.D236_splice|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Splice_Site_p.D219_splice					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCTACAGATGCTGCTGTAA	0.522000													24	133					0	0	1	0	0
UBE2H	7328	broad.mit.edu	37	7	129474885	129474885	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:129474885G>A	ENST00000355621.3	-	7	837	c.444C>T	c.(442-444)taC>taT	p.Y148Y	UBE2H_ENST00000473814.2_Silent_p.Y117Y	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	148					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCTCCGTGGCGTATTTCTGGA	0.567000													45	167					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154300301	154300301	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:154300301T>C	ENST00000368489.3	+	1	26	c.26T>C	c.(25-27)cTt>cCt	p.L9P	ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S11fs*92(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGTTCCCCTTTTTTCAATA	0.527000													5	335					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379901	61379901	+	RNA	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:61379901G>A	ENST00000544088.1	+	0	393				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGGCTCTACGGGACAAAGAC	0.443000													48	130					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAAGGGTGCGGACCCCCGT	0.597000													6	559					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274418	51274418	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:51274418C>T	ENST00000270590.4	+	1	698	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	187						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AATGGAATGGCTGTACGCACT	0.572000													36	100					0	0	1	0	0
ANKRD20A5P	0	broad.mit.edu	37	18	14179525	14179525	+	RNA	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:14179525C>T	ENST00000581935.1	+	0	430																				lung(3)	3						CTGTCAAGGGCGACGCTGCGG	0.652000													17	40					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222836	27222836	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:27222836C>T	ENST00000230582.3	+	11	1417	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	PRSS16_ENST00000421826.2_Missense_Mutation_p.R211C|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	468					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTTCTTATCCGCACTGGCTC	0.547000													83	223					0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204751	50204751	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:50204751C>T	ENST00000282026.1	+	2	503	c.168C>T	c.(166-168)caC>caT	p.H56H	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	56					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CTCCTGGGCACGTGTCACTGA	0.602000													40	83					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43313573	43313573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:43313573G>A	ENST00000331495.3	+	7	1021	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V229I	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	229	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGACGTCCACGTCTGTATTAT	0.642000											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	38					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507000													4	146					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035786	125035786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:125035786G>A	ENST00000522917.1	+	18	2442	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T	FER1L6_ENST00000399018.1_Missense_Mutation_p.A746T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	746						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCCCTGTCGCGGGGCAGAT	0.493000													35	107					0	0	1	0	0
EPHB6	0	broad.mit.edu	37	7	142561851	142561851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142561851G>A	ENST00000392957.2	+	7	1080	c.293G>A	c.(292-294)cGc>cAc	p.R98H	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R98H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	98						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGAGCGGCGCGGGGCCCAG	0.652000													115	399					0	0	1	0	0
RAB28	0	broad.mit.edu	37	4	13378229	13378229	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:13378229C>G	ENST00000288723.4	-	6	727	c.513G>C	c.(511-513)caG>caC	p.Q171H	RAB28_ENST00000338176.4_Missense_Mutation_p.Q171H|RAB28_ENST00000330852.5_Missense_Mutation_p.Q171H	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	171					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CAGCAACTTTCTGAAAGCACA	0.289000													62	178					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204259426	204259426	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:204259426G>A	ENST00000295851.4	+	6	878	c.582G>A	c.(580-582)cgG>cgA	p.R194R	ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Silent_p.R188R|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000261016.6_Silent_p.R143R|ABI2_ENST00000422511.2_Silent_p.R194R|ABI2_ENST00000261017.5_Silent_p.R188R			Q9NYB9	ABI2_HUMAN	abl-interactor 2	194	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.R188R(2)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TTTGTAGGCGGCACTCCCCCT	0.473000													4	208					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206327	55206327	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:55206327C>G	ENST00000201031.2	+	2	358	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	39	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CGGGCAGCACCTCTACAGCCC	0.637000													50	161					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25171614	25171614	+	RNA	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:25171614T>C	ENST00000453498.1	+	0	1510																											GAGATACTTTTTGGCGAGAAA	0.393000													39	93					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275913	130275913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:130275913G>A	ENST00000257359.6	-	9	2916	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCATCAGCCGTCTTCAGCGC	0.567000													9	223					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132642504	132642504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:132642504G>T	ENST00000315480.4	+	25	2855	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	USP20_ENST00000358355.1_Missense_Mutation_p.E899D|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.E899D			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	899					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGGGCCCAGAGAACCTGCACG	0.642000													14	34					9.31168e-06	9.57773e-06	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74091249	74091249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:74091249C>T	ENST00000443185.2	-	4	3138	c.2821G>A	c.(2821-2823)Gcg>Acg	p.A941T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAGGGCTGCGCGCCAGCCCGG	0.701000													28	73					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231293	115231293	+	Missense_Mutation	SNP	C	C	T	rs147972392		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:115231293C>T	ENST00000369538.3	-	2	238	c.191G>A	c.(190-192)cGt>cAt	p.R64H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R35H|AMPD1_ENST00000520113.2_Missense_Mutation_p.R68H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	35					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATCTCCTGACGACCTCCTTC	0.423000													16	265					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602000													4	215					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008969	184008969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:184008969C>T	ENST00000402825.3	+	17	2330	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	ECE2_ENST00000404464.3_Missense_Mutation_p.T659M|ECE2_ENST00000359140.4_Missense_Mutation_p.T630M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.T705M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	777	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCGCCAGACGCTGGGGGAG	0.622000													41	108					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068438	89068438	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:89068438C>G	ENST00000286614.6	-	8	1572	c.1291G>C	c.(1291-1293)Gga>Cga	p.G431R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	431	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCCACTTCCAAGGGTTATC	0.413000													25	208					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169702103	169702103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:169702103T>C	ENST00000333360.7	-	3	213	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SELE_ENST00000367782.4_Missense_Mutation_p.N25S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.N25S|SELE_ENST00000367777.1_Missense_Mutation_p.N25S|SELE_ENST00000367776.1_Missense_Mutation_p.N25S|SELE_ENST00000367781.4_Missense_Mutation_p.N25S|SELE_ENST00000367775.1_Missense_Mutation_p.N25S|SELE_ENST00000367779.4_Missense_Mutation_p.N25S|SELE_ENST00000367774.1_Missense_Mutation_p.N25S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	25	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CGTGGAGGTGTTGTAAGACCA	0.418000													57	118					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	rs148150409	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:172590800G>A	ENST00000231668.9	+	7	796	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488000													4	158					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41276094	41276094	+	Missense_Mutation	SNP	C	C	T	rs144792613		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:41276094C>T	ENST00000357654.3	-	2	138	c.20G>A	c.(19-21)cGc>cAc	p.R7H	BRCA1_ENST00000352993.3_Missense_Mutation_p.R7H|BRCA1_ENST00000351666.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R7H|BRCA1_ENST00000471181.2_Missense_Mutation_p.R7H|BRCA1_ENST00000354071.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.R7H|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R7H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	7					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCAACGCGAAGAGCAGA	0.308000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			26	70					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092709	53092709	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:53092709A>T	ENST00000276480.7	-	9	933	c.250T>A	c.(250-252)Ttg>Atg	p.L84M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	84						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGTTTCCAAGGGGCCATCG	0.522000													121	244					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12936718	12936718	+	Silent	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:12936718G>T	ENST00000322912.5	-	7	905	c.588C>A	c.(586-588)cgC>cgA	p.R196R	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000458671.2_Silent_p.R164R|RTBDN_ENST00000592204.1_Silent_p.R174R|RTBDN_ENST00000589272.1_3'UTR	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	164						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCAGAGCCGAGCGACAAAGGT	0.652000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0.000602214	0.000613577	1	1	0
ZNF14	7561	broad.mit.edu	37	19	19823828	19823828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:19823828G>A	ENST00000344099.3	-	4	400	c.262C>T	c.(262-264)Cca>Tca	p.P88S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTAACATTTGGCATCTGGCTA	0.378000													10	319					0	0	1	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18781090	18781090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:18781090G>A	ENST00000268835.2	+	6	602	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.V67M|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.V107M|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.V21M	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	107					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGGCGTGATACCCTA	0.458000													55	165					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138589815	138589815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:138589815G>A	ENST00000440172.1	-	7	3521	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1108L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1158L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1158						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGAGCTGTGGATACTGGAA	0.383000			O	BRAF	pilocytic astrocytoma								6	18					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967201	49967201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:49967201G>A	ENST00000293350.4	+	9	1352	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V346M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V232M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V234M|CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.G32D	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	397							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGTGCCCAGGTGGAGGTGAG	0.627000													78	336					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135288604	135288604	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:135288604G>A	ENST00000274507.1	-	2	299	c.99C>T	c.(97-99)atC>atT	p.I33I	LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.I33I|LECT2_ENST00000514447.2_Silent_p.I33I|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	33					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACACGTCCGGATCTCATTGG	0.512000													25	290					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617841	37617841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:37617841C>T	ENST00000399151.3	+	19	3648	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1188					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGACGCAGGCTTCTGAGTCG	0.637000													30	98					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689808	10689808	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:10689808G>C	ENST00000356607.4	+	9	978	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E236Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652000													3	17					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195601	31195601	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:31195601A>G	ENST00000254108.7	+	5	512	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	FUS_ENST00000568685.1_Missense_Mutation_p.Y136C|FUS_ENST00000380244.3_Missense_Mutation_p.Y135C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	136	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGCCTAGCTATGGTGGACAG	0.522000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								60	190					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73563115	73563115	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:73563115G>A	ENST00000224721.6	+	54	7830	c.7825G>A	c.(7825-7827)Gtc>Atc	p.V2609I	CDH23_ENST00000398788.3_Missense_Mutation_p.V364I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2604	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTCATCGACGTCAATGACAA	0.607000													6	10					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682000													25	51					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452306	45452306	+	Missense_Mutation	SNP	C	C	T	rs144496511	by1000genomes	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:45452306C>T	ENST00000331493.2	+	12	1757	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T353M	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.T449M(1)									GTTTCGTCTACGGAAAAAACT	0.358000													6	114					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149898642	149898642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:149898642A>G	ENST00000445323.2	+	7	738	c.617A>G	c.(616-618)gAa>gGa	p.E206G	MTMR1_ENST00000542156.1_Missense_Mutation_p.E198G|MTMR1_ENST00000544228.1_Missense_Mutation_p.E198G|MTMR1_ENST00000370390.3_Missense_Mutation_p.E198G|MTMR1_ENST00000541925.1_Missense_Mutation_p.E104G|MTMR1_ENST00000451863.2_Missense_Mutation_p.E198G|MTMR1_ENST00000538506.1_Missense_Mutation_p.E85G			Q13613	MTMR1_HUMAN	myotubularin related protein 1	198						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATATTTGAAAACCTCAAC	0.378000													53	49					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619007	48619007	+	Splice_Site	SNP	C	C	T	rs149869536		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:48619007C>T	ENST00000328333.8	-	49	4888	c.4782_splice	c.e49+1	p.R1594_splice	COL7A1_ENST00000454817.1_Splice_Site_p.R1594_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGATTCACCCGGTCTCCAGG	0.592000													4	139					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99399849	99399849	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:99399849G>C	ENST00000305798.3	-	5	965	c.563C>G	c.(562-564)aCt>aGt	p.T188S	TSPAN5_ENST00000505184.1_Missense_Mutation_p.T117S	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	188						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGGATCTTTAGTGCAGCAGGA	0.468000													62	146					0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74701027	74701027	+	Silent	SNP	G	G	A	rs141448551		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:74701027G>A	ENST00000373032.3	-	3	458	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	122					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TGTTGGCACCGCAAGTGTCAT	0.493000													4	247					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20657769	20657769	+	RNA	SNP	T	T	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:20657769T>A	ENST00000428453.1	-	0	2189																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGTCCCGATGGGTTCTCAT	0.532000													15	128					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121432064	121432064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:121432064C>T	ENST00000257555.6	+	4	1037	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HNF1A_ENST00000402929.1_Missense_Mutation_p.R271W|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271W|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271W|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271W|HNF1A_ENST00000543427.1_Missense_Mutation_p.R154W|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K273fs*41(1)|p.R271W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTTGCCAACCGGCGCAAAGA	0.667000									Hepatic Adenoma, Familial Clustering of				14	31					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113552605	113552605	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:113552605C>T	ENST00000546530.1	-	13	1466	c.1181_splice	c.e13+1	p.R394_splice	RASAL1_ENST00000548055.1_Splice_Site_p.R394_splice|RASAL1_ENST00000446861.3_Splice_Site_p.R394_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Splice_Site_p.R394_splice	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	394	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTTTGCTCACCGGGTGCGGCC	0.622000													161	484					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15517083	15517083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:15517083T>C	ENST00000344577.2	-	9	1244	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	LIPI_ENST00000536861.1_Missense_Mutation_p.I386V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	386					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGCAAGAATCTTGACTTCT	0.294000													107	121					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831482	86831482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:86831482C>A	ENST00000237455.4	-	4	2510	c.1542G>T	c.(1540-1542)atG>atT	p.M514I	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	514					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TAAATCGCCACATTGGTAAGT	0.433000													134	344					2.31934e-59	2.48009e-59	1	1	0
SLC4A11	83959	broad.mit.edu	37	20	3210080	3210080	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:3210080G>A	ENST00000380059.3	-	15	1991	c.1890C>T	c.(1888-1890)tgC>tgT	p.C630C	SLC4A11_ENST00000539553.1_Silent_p.C587C|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.C603C	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	603	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCTCGCACGCAGGGGTGCA	0.647000													4	151					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945527	119945527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:119945527A>C	ENST00000297350.4	-	2	421	c.43T>G	c.(43-45)Tcc>Gcc	p.S15A		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	15					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTTAATGGAGATGTCCAGA	0.423000													74	175					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51138418	51138418	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:51138418C>T	ENST00000301180.5	+	38	4561	c.4527C>T	c.(4525-4527)tgC>tgT	p.C1509C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1509						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGAACTGTGCGGCTCTGAAC	0.478000													4	232					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21596085	21596085	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:21596085C>T	ENST00000244745.1	+	1	2114	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	SOX4_ENST00000543472.1_Silent_p.S440S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	440					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			AGCCCGGCTCCGGCTCGCACT	0.597000													3	37					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67816254	67816254	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:67816254T>C	ENST00000255674.6	-	17	2478	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	RTTN_ENST00000454359.1_Missense_Mutation_p.D731G|RTTN_ENST00000437017.1_Missense_Mutation_p.D731G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	731							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCCAGAGGATCTTCTGTGTC	0.368000													78	166					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48533740	48533740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:48533740C>A	ENST00000396577.3	+	10	1459	c.1244C>A	c.(1243-1245)aCc>aAc	p.T415N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.T415N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T415N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	415					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCAGAGGAACCATGCTGGCC	0.428000													92	280					5.28548e-51	5.59639e-51	1	1	0
PRMT6	55170	broad.mit.edu	37	1	107599766	107599766	+	Silent	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:107599766A>G	ENST00000361318.5	+	1	500	c.252A>G	c.(250-252)gtA>gtG	p.V84V	PRMT6_ENST00000370078.1_Silent_p.V143V	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	143					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGGAGACTGTAGAGTTGCCGG	0.652000													64	144					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599760	25599760	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:25599760C>T	ENST00000215855.2	+	4	305	c.225C>T	c.(223-225)cgC>cgT	p.R75R	CRYBB3_ENST00000404334.1_Silent_p.R75R	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	75	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GGGCCTTCCGCGGGGAGCAGT	0.567000													5	210					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													4	216					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418785	55418785	+	Missense_Mutation	SNP	C	C	T	rs148733636		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:55418785C>T	ENST00000312422.2	+	1	406	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATCATGAACCGGGAGACATG	0.433000													8	492					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069951	153069951	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:153069951G>A	ENST00000164640.4	-	8	1358	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	PDZD4_ENST00000544474.1_Silent_p.V280V|PDZD4_ENST00000393758.2_Silent_p.V314V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGCGGTTGACGTCCAGGG	0.632000													34	21					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696689	20696689	+	Translation_Start_Site	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:20696689C>T	ENST00000219151.4	-	0	296				ACSM1_ENST00000520010.1_Missense_Mutation_p.V77M|ACSM1_ENST00000307493.4_Missense_Mutation_p.V77M			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGCCATTCACCCACCAAAAA	0.468000													4	227					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620692	59620692	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:59620692G>A	ENST00000257264.3	-	8	1328	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	408					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGTGGTTCGCCTCCACTCA	0.522000													159	367					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3913829	3913829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3913829G>A	ENST00000450849.2	+	9	1407	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ATCAY_ENST00000398448.3_Missense_Mutation_p.V320I|ATCAY_ENST00000301260.6_Missense_Mutation_p.V314I|ATCAY_ENST00000600960.1_Missense_Mutation_p.V314I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	314	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TATGGAACACGTCCAGATCCC	0.562000													19	88					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2844622	2844622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:2844622G>T	ENST00000380445.3	+	16	1576	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	VPS16_ENST00000380443.3_Missense_Mutation_p.D188Y|VPS16_ENST00000380469.3_Missense_Mutation_p.D358Y|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	502					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCAGATGAGGATGTGGCTCG	0.572000													12	232					0.000978159	0.000987301	1	1	0
MYPN	84665	broad.mit.edu	37	10	69882079	69882079	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:69882079T>C	ENST00000358913.5	+	2	1372	c.884T>C	c.(883-885)aTt>aCt	p.I295T	MYPN_ENST00000373675.3_Missense_Mutation_p.I295T|MYPN_ENST00000540630.1_Missense_Mutation_p.I295T|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	295	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTGGTAGGAATTCCACCACCT	0.453000													35	66					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849929	35849929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:35849929G>A	ENST00000327809.4	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCAGCGCCGCCCGGTGGCC	0.637000													76	553					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104219392	104219392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr14:104219392C>T	ENST00000202556.9	-	7	1055	c.773G>A	c.(772-774)gGc>gAc	p.G258D		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	258	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CGTCAATTTGCCATTGTAAGA	0.418000													5	222					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63131098	63131098	+	Missense_Mutation	SNP	G	G	A	rs145762497	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:63131098G>A	ENST00000561311.1	+	57	7648	c.7418G>A	c.(7417-7419)cGt>cAt	p.R2473H	TLN2_ENST00000306829.6_Missense_Mutation_p.R2473H|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2473	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AATCTTGTCCGTGCAGCCCAG	0.458000													5	268					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102550270	102550270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr14:102550270G>A	ENST00000334701.7	-	8	1845	c.1564C>T	c.(1564-1566)Cgt>Tgt	p.R522C	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R221C|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.R400C	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	400					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AACATCTCACGGGATATGTTT	0.378000													6	163					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3825253	3825253	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3825253G>A	ENST00000262961.4	-	7	1198	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	396						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGAGGCCACGGGTCTCTTGG	0.642000													12	25					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324292	3324292	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:3324292G>A	ENST00000291231.1	+	1	431	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TACAGCACCCGCATGAGTCAG	0.597000													4	218					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438000													4	211					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													6	147					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33486482	33486482	+	Silent	SNP	G	G	A	rs151107152	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:33486482G>A	ENST00000268876.5	+	8	994	c.897G>A	c.(895-897)gcG>gcA	p.A299A	UNC45B_ENST00000433649.1_Silent_p.A299A|UNC45B_ENST00000378449.1_Silent_p.A299A|UNC45B_ENST00000394570.2_Silent_p.A299A|UNC45B_ENST00000591048.1_Silent_p.A299A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	299					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGGATCAGGCGCTGAACCTGC	0.512000													129	244					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53493484	53493484	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:53493484C>A	ENST00000262133.6	+	9	1438	c.1301C>A	c.(1300-1302)aCa>aAa	p.T434K	RBL2_ENST00000544545.1_Missense_Mutation_p.T218K|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	434	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCATGCTGACAGGCCTCAGG	0.443000													4	152					1	1	1	1	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334113	39334113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:39334113G>A	ENST00000377726.2	-	1	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657000													67	138					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	143					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57528508	57528509	+	Frame_Shift_Del	DEL	TA	TA	-	rs116066702	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:57528508_57528509delTA	ENST00000351747.2	-	2	269_270	c.89_90delTA	c.(88-90)afs	p.I30fs	DNAH12_ENST00000389536.4_Frame_Shift_Del_p.I30fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.I30fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	30	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACGCCTATGTTTTCTGG	0.416													73	195	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													2	4	---	---	---	---					
SLU7	10569	broad.mit.edu	37	5	159831523	159831525	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:159831523_159831525delTTC	ENST00000297151.4	-	15	1890_1892	c.1503_1505delGAA	c.(1501-1506)aaa>aa	p.KK505del		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	505					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ctttttctttttcttcttcttct	0.335													27	115	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74303583	74303592	+	RNA	DEL	ACAGAAAGAG	ACAGAAAGAG	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:74303583_74303592delACAGAAAGAG	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						agcctgggcaacagaaagagactgtctcaa	0.452													3	4	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													8	174	---	---	---	---					
TOR4A	54863	broad.mit.edu	37	9	140173724	140173724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:140173724delC	ENST00000357503.2	+	2	779	c.583delC	c.(583-585)ccfs	p.P195fs		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	195					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GCTGCACGGGCCCAGTGGCGT	0.706													2	4	---	---	---	---					
BMI1	648	broad.mit.edu	37	10	22616921	22616925	+	Frame_Shift_Del	DEL	AAGAT	AAGAT	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:22616921_22616925delAAGAT	ENST00000376663.3	+	6	864_868	c.359_363delAAGAT	c.(358-363)gfs	p.ED120fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.ED263fs	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTTGCAGATGAAGATAAGAGAATTA	0.288													58	122	---	---	---	---					
SEMA4G	57715	broad.mit.edu	37	10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:102743064_102743066delCCA	ENST00000210633.3	+	14	1786_1788	c.1708_1710delCCA	c.(1708-1710)del	p.P573del	MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del|RP11-108L7.4_ENST00000447344.1_RNA			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616													2	4	---	---	---	---					
TAF10	6881	broad.mit.edu	37	11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)gafs	p.G51fs	TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816													2	4	---	---	---	---					
DDX51	317781	broad.mit.edu	37	12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)ggfs	p.G165fs		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756													2	4	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					10	485	---	---	---	---					
RP11-1166P10.8	0	broad.mit.edu	37	16	32126700	32126726	+	RNA	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG	ENST00000564145.1	-	0	456																											ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352													3	5	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7646596	7646597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:7646596_7646597insT	ENST00000570791.1	+	14	2371_2372	c.2286_2287insT	c.(2284-2289)tattttfs	p.YF762fs	DNAH2_ENST00000082259.3_Frame_Shift_Ins_p.YF762fs|DNAH2_ENST00000572933.1_Intron|DNAH2_ENST00000389173.2_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	0	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTCATTTTACTTTTTTTTTTC	0.342													2	4	---	---	---	---					
DEPDC5	9681	broad.mit.edu	37	22	32293599	32293599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:32293599delC	ENST00000400246.1	+	40	4477	c.4335delC	c.(4333-4335)atfs	p.I1445fs	DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.I1445fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.I1423fs|DEPDC5_ENST00000382112.3_Frame_Shift_Del_p.I1436fs|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Frame_Shift_Del_p.I262fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.I1345fs|DEPDC5_ENST00000400248.1_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.I1414fs			O75140	DEPD5_HUMAN	DEP domain containing 5	1414					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACTCAACATCAGCTGCTTGC	0.527													22	218	---	---	---	---