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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													7	77					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70016654	70016654	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:70016654A>G	ENST00000325845.7	-	22	2280	c.211T>C	c.(211-213)Ttc>Ctc	p.F71L	RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.F86L|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GTCTTCAGGAAAGGCACCTAG	0.502000													6	316					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114506859	114506859	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:114506859C>T	ENST00000379618.2	-	2	632	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Intron	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	0						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTCGCTGTGGCAAGTTCCGTC	0.473000													97	206					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													22	142					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1879					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGAGACCCGGCCCCTGCGA	0.652000													45	71					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000315938.4	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000376217.2_Missense_Mutation_p.V127M	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	127					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAACATGCCACGTAGAAGGCC	0.483000													43	112					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	206					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149516508	149516508	+	RNA	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:149516508C>T	ENST00000378016.2	+	0	11911							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGCCGCCTGCGGGCATACCG	0.706000													19	108					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				4	135					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	218					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537000								Direct reversal of damage;Homologous recombination					5	342					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	119							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCTGCTTATGAGTCTATT	0.368000													61	68					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1405					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGCCATGCGCTCTGCGTGG	0.642000													11	86					0	0	1	0	0
RP11-389E17.1	0	broad.mit.edu	37	4	178897004	178897004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:178897004G>A	ENST00000507870.1	+	5	669	c.207G>A	c.(205-207)tgG>tgA	p.W69*																	lung(8)|prostate(1)	9						GTCATCACTGGGGCACGGGAA	0.413000													6	256					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													8	388					0	0	1	0	0
MAD2L1	4085	broad.mit.edu	37	4	120987848	120987848	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:120987848G>A	ENST00000296509.5	-	1	381	c.42C>T	c.(40-42)cgC>cgT	p.R14R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	14	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CGGCGCTCCCGCGCAGGGTGA	0.632000													5	209					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	510					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATACCTGTTCAGCAATATAA	0.318000													59	84					8.4772e-36	9.258e-36	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													7	87					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1308					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGTCCAGGCCGTGCCCCTGGC	0.692000													16	39					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17411740	17411740	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:17411740G>A	ENST00000247706.3	-	2	925	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCAGCCAGCGCATAGAAGGT	0.602000													6	455					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21894217	21894217	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894217C>G	ENST00000319481.3	-	12	1171	c.965G>C	c.(964-966)aGa>aCa	p.R322T		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	322	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATTACCTCTCTTGACTGCTG	0.378000													48	262					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371616	240371616	+	Silent	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:240371616A>T	ENST00000319653.9	+	5	3734	c.3504A>T	c.(3502-3504)ctA>ctT	p.L1168L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1168	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTACCCGGAGCGG	0.687000													4	70					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6157416	6157416	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1102_splice	c.e12-1	p.A368_splice	RBM17_ENST00000379888.4_Splice_Site_p.A368_splice|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353000													11	289					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373000													6	541					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637000													20	187					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582000													4	190					0	0	1	0	0
LRRC37BP1	0	broad.mit.edu	37	17	28958830	28958830	+	RNA	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:28958830G>A	ENST00000412831.1	+	0	58				SMURF2P1_ENST00000578265.1_RNA																							TTACAAGCCCGGAAGCAGCAC	0.488000													5	595					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378105	55378105	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL1_ENST00000402254.2_Silent_p.T429T|KIR3DL2_ENST00000270442.5_Silent_p.T412T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	429					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCGTGTACACGGAACTTCCAA	0.522000													286	596					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	377					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTGTGCGGCCCAGGCA	0.657000													5	223					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856671	12856671	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	346	Poly-Asp.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGACGATGACATGAGCTGGA	0.617000													65	74					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296840	29296840	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	96					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGAGGTTTTGGTTCCTGGGA	0.483000													184	392					0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													184	332					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299404	125299404	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000538699.1	-	2	584	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000360028.2_Silent_p.G168G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	168										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGGGTTTTCGCCGCCGGTGG	0.672000													78	222					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007522	93007522	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGGCCAGCCCGCATACCATGC	0.572000													22	384					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36989551	36989551	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	168							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATGAGGTCCTGCTGAGAGACT	0.423000													19	402					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627000													6	822					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000352832.5	+	6	1276	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y302H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	302					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637000													37	78					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403000													48	129					6.17242e-35	6.69687e-35	1	1	0
STARD3	0	broad.mit.edu	37	17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	rs35874339		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCGACAGCGCATCAGCGAG	0.667000													6	860					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	863	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACATTTTAAACACTCTAGGAT	0.403000													9	485					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70016657	70016657	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:70016657G>A	ENST00000325845.7	-	22	2277	c.208C>T	c.(208-210)Cct>Tct	p.P70S	RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.P85S|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TTCAGGAAAGGCACCTAGGAA	0.493000													6	310					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635138	179635138	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000589042.1	-	35	8605		c.e35+1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCAACTTACTCTCCACGTG	0.433000													11	363					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148875180	148875180	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:148875180G>A	ENST00000296051.2	+	9	1693	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	518						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCAGAGCTGCATTCACCTT	0.448000									Hermansky-Pudlak syndrome				5	319					0	0	1	0	0
TSEN34	79042	broad.mit.edu	37	19	54696142	54696142	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TSEN34_ENST00000302937.4_Silent_p.Y221Y|TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	221					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGCGCTACAGTATCTACA	0.642000													51	240					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													9	430					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586444	20586444	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCTTCGGCAACCACT	0.418000													72	104					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													8	508					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371604	240371604	+	Silent	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:240371604A>T	ENST00000319653.9	+	5	3722	c.3492A>T	c.(3490-3492)ccA>ccT	p.P1164P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1164	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.687000													4	43					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389402	1389402	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1389402C>T	ENST00000324803.4	+	1	4063	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	368	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACACGTGCCCATGTGGAG	0.657000													14	3766					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33234430	33234430	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	395					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGGTATTCGCGGCAGGAAT	0.512000													8	248					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21897296	21897296	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	267	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTACTGTTTCCTATACCATG	0.313000													189	251					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391144	107391144	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000429433.2	-	5	1900	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000369042.1_Silent_p.R417R	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	417	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGGAAGAGCCGGTGGAGGA	0.632000													4	167					0	0	1	0	0
ZNF266	0	broad.mit.edu	37	19	9526402	9526402	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000590306.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTTAAGTTGCACTTTCCATT	0.418000													9	232					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1067					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATGCTAATCTACTCGTGAA	0.323000													112	314					0	0	1	0	0
C16orf74	404550	broad.mit.edu	37	16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000602583.1	-	1	623	c.73G>A	c.(73-75)Gac>Aac	p.D25N	C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_Missense_Mutation_p.D37N|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602675.1_5'UTR			Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662000													20	33					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	780	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGATATGTTTCTGCAAAAGCC	0.383000													88	238					1.4597e-55	1.60471e-55	1	1	0
FN1	2335	broad.mit.edu	37	2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000354785.4	-	14	2369	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000359671.1_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1	667	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTTTGATGGTGTAGGAGTT	0.488000													107	103					0	0	1	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T	rs144252881	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:20170029C>T	ENST00000338912.5	-	0	242																											CCTGGAACTTCTGTGCATAGC	0.547000													5	490					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:82784471A>G	ENST00000423517.2	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													12	567					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.711000													19	330					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000377532.3	+	17	2847	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S	PER3_ENST00000361923.2_Missense_Mutation_p.P867S			P56645	PER3_HUMAN	period circadian clock 3	867	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTTTTGCCATGTCCATT	0.537000													7	761					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95513820	95513820	+	RNA	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:95513820C>T	ENST00000432432.2	-	0	791					NR_040113.1																						ATGTCTTGAGCGAAGACATCA	0.358000													12	1297					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													6	245					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	437					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000541778.1	-	8	1267	c.779C>T	c.(778-780)tCt>tTt	p.S260F	NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	33					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207749012	207749012	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000400960.2_Silent_p.P1058P|CR1_ENST00000367051.1_Silent_p.P1058P|CR1_ENST00000367052.1_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448000													6	963					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	253						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTTATGACTTCTGTCTGG	0.458000													4	241					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	125					0.184627	0.185746	1	1	0
TPPP3	51673	broad.mit.edu	37	16	67424140	67424140	+	Silent	SNP	G	G	A	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	156					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGCCACTGTCGTCCAGGATGT	0.627000													90	223					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			9	1439					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	297					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGCCTTCATGGACCACATCCG	0.657000													48	252					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637000													5	291					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000293349.6	-	6	1088	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	220					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCTGGGTCCCCGCAACTTTCC	0.597000													96	137					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	303	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTCATCAAAGCATTTAATAAA	0.363000													65	305					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													6	288					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000589042.1	-	326	72898	c.72674C>T	c.(72673-72675)cCg>cTg	p.P24225L	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22584L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22584	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTGGGCGGATCAGGGGG	0.438000													5	472					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523505	49523505	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.3_splice	c.e2-1	p.R2_splice	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	2					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGCACTCACGCTGCGGGAAG	0.468000													65	86					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	202	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTCAGTGCTCACCCTCATC	0.657000													5	359					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140222650	140222650	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140222650C>T	ENST00000531613.1	+	1	1744	c.1744C>T	c.(1744-1746)Ccg>Tcg	p.P582S	PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGGTGCCGCGGTCTGT	0.682000													5	341					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	112					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813192	41813192	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1064	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGGCTGGCGAGCAATGAG	0.662000													60	177					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													6	150					0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5833606	5833606	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	251					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA 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|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAACCACCGCACCAGCAGC	0.657000													10	28					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724041	244724041	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000366533.4_Silent_p.K367K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						integral to membrane		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408000													11	386					0	0	1	0	0
GOLGA8DP	0	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													5	601					0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	296					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCGAGACCCGCAGCATGCGG	0.667000													47	126					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													26	353					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R135*(4)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328000													9	120					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088597	50088597	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:50088597C>T	ENST00000305386.2	+	1	1109	c.611C>T	c.(610-612)gCc>gTc	p.A204V	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	204					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCGAAGAATGCCGCTTTGAAA	0.502000													6	461					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144804265	144804265	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	493					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTCCTCCGGAGGCCCGGC	0.652000													141	298					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H|CTA-286B10.7_ENST00000417343.1_RNA	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647000													5	281					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572000										HNSCC(15;0.026)			9	1208					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69713266	69713266	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:69713266G>A	ENST00000374355.3	+	7	1120	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	DLG3_ENST00000194900.4_Intron|DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000374360.3_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	592	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGCCTCTCTCGAAAGTTTCCA	0.448000													40	99					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								8	115					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463601	100463601	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100463601C>T	ENST00000354161.3	+	14	2244	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	707						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGGGCCTTGCCCCCTGAGCG	0.711000													5	439					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358000													7	1089					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1642976A>G	ENST00000399682.1	-	1	392	c.348T>C	c.(346-348)ggT>ggC	p.G116G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	116	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000													13	277					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1256										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGGCCGGGCGTCTAGGACTC	0.607000													68	112					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	113					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGATGTTGGCCTGGATCTT	0.517000													9	166					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602000													6	469					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	990							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAATGTTGTTGGCTTCTCC	0.488000													4	228					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420121	152420121	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000397345.3	-	119	18894	c.18693_splice	c.e119+1	p.A6231_splice	NEB_ENST00000427231.2_Splice_Site_p.A6231_splice|NEB_ENST00000409198.1_Splice_Site_p.A4530_splice|NEB_ENST00000603639.1_Splice_Site_p.A6231_splice|NEB_ENST00000172853.10_Splice_Site_p.A4530_splice|NEB_ENST00000604864.1_Splice_Site_p.A6231_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A4530E(1)|p.A6231E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACCGCACTCCTCAT	0.473000													193	595					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11398786	11398786	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:11398786C>T	ENST00000227756.4	-	5	1331	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		ATTTAGGTAGCGGCACCACAG	0.532000													94	239					0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291164	126291164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:126291164G>T	ENST00000383572.2	-	3	701	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.L75M	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	75										endometrium(1)|large_intestine(2)|skin(2)	5						ctggcttgcagtgccctggAG	0.542000													58	162					1.4709e-25	1.56519e-25	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			50	156					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697000													4	149					0	0	1	0	0
AC007040.8	0	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527000													3	45					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1076										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTTGTGATGCATGTAAGTA	0.413000													59	319					7.89702e-26	8.45746e-26	1	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	234					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CGTTTCAATGCTTTGTAGATG	0.279000													89	343					1.39521e-32	1.50393e-32	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15666164	15666164	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:15666164C>T	ENST00000380701.3	+	9	1247	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CCDC171_ENST00000297641.3_Missense_Mutation_p.R307W	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	307	Glu-rich.																CCGGTAGTTACGGATTCGAGA	0.368000													6	222					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388722	1388722	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1388722C>T	ENST00000324803.4	+	1	3383	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	141					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCCATGCGGAG	0.697000													15	2672					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000346562.2	+	11	2556	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S	NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000356141.4_Missense_Mutation_p.G860S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACAGCCCCGGCTTTGGCCT	0.652000													13	24					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1022	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGCCAGAGCGCAGCTGCTG	0.627000													5	163					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000439576.2	+	3	792	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000561243.1_Missense_Mutation_p.E140K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	140					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATGGCATCGAGGACAGCGA	0.612000													145	282					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348000													5	531					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													6	212					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33771812	33771812	+	Silent	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	296						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTACGATTTTGGTGCTGTACT	0.413000													144	689					1.19641e-65	1.33292e-65	1	1	0
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000595948.1	-	5	896	c.276C>T	c.(274-276)gcC>gcT	p.A92A	IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCACCAGCCCGGCCACACCAG	0.627000													31	655					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	298	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TACAGATGCTACGGTGCACAC	0.672000										HNSCC(37;0.09)			4	276					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:153907303C>T	ENST00000361217.4	-	18	3124	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	902	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642000													5	260					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													6	291					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000420246.2	-	7	908	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACCTGGAGTCTTCCAGTGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	63					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													5	150					0.014758	0.014938	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													6	311					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000392429.1	+	2	2517	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	47						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCCGGGCAGATGTTGTGGT	0.507000													154	158					4.58859e-59	5.07804e-59	1	1	0
GPHN	10243	broad.mit.edu	37	14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000478722.1	+	19	3015	c.1894G>T	c.(1894-1896)Gtt>Ttt	p.V632F	GPHN_ENST00000543237.1_Missense_Mutation_p.V645F|GPHN_ENST00000315266.5_Missense_Mutation_p.V599F|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	599	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTTTGGCAGGGTTTTTATGAA	0.333000			T	MLL	AL								5	464					0.000602214	0.000617084	1	1	0
KSR2	283455	broad.mit.edu	37	12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000425217.1	-	10	1591	c.1537C>T	c.(1537-1539)Ccg>Tcg	p.P513S	KSR2_ENST00000339824.5_Missense_Mutation_p.P542S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGCGGCGTGGCACTA	0.647000													61	84					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													6	38					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	191					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299000													5	174					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	216					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.A216T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAATTGCCAGCAGATTTAGA	0.313000													110	258					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	260					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	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													5	128					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction			p.V358I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTATTTTGGCGTTTCTAATAA	0.458000													94	250					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155148314	155148314	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:155148314C>T	ENST00000367178.3	+	18	2656	c.2080C>T	c.(2080-2082)Ccg>Tcg	p.P694S	SCAF8_ENST00000417268.1_Missense_Mutation_p.P694S|SCAF8_ENST00000367186.4_Missense_Mutation_p.P760S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	694	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGTTTCATGCCGCCTCCAGT	0.368000													5	307					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.181_splice	c.e3-1	p.G61_splice		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTTGCAGGCCCCCCCGTGA	0.647													7	913	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													7	609	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													12	621	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:57537235delT	ENST00000371236.2	-	6	781	c.518delA	c.(517-519)agfs	p.K173fs	DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393													8	332	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													13	298	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													7	76	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													9	28	---	---	---	---					
RPRD2	23248	broad.mit.edu	37	1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000401000.4	+	10	2339	c.2274delT	c.(2272-2274)aafs	p.N758fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Frame_Shift_Del_p.N784fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	784	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTCTCCAATTCTGTATCTA	0.507													106	100	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gac>ga	p.ED171del	MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													9	409	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													13	745	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													11	524	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													9	388	---	---	---	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:202097525_202097527delCTG	ENST00000367282.4	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gac>ga	p.DC429del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	429	Cys-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626													8	118	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aac>aa	p.KN93del	SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													7	389	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													13	399	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	560	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)ttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													9	1679	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	42	---	---	---	---					
CRYGA	1418	broad.mit.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggcfs	p.G159fs		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.530													7	783	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cct>c	p.QP659del	TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.660													8	107	---	---	---	---					
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:234394236_234394237insT	ENST00000251722.6	-	30	3558_3559	c.3441_3442insA	c.(3439-3444)aaaagafs	p.R1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337													8	239	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													8	454	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:113380090delT	ENST00000316407.4	-	7	849	c.439delA	c.(439-441)ttfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													7	398	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	364	---	---	---	---					
ZNF876P	0	broad.mit.edu	37	4	217874	217874	+	RNA	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:217874delG	ENST00000356347.3	+	0	172					NR_027481.1																						ggctgcttcagggagcacagc	0.537													11	551	---	---	---	---					
GAK	2580	broad.mit.edu	37	4	845556	845556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:845556delC	ENST00000314167.4	-	25	3600	c.3490delG	c.(3490-3492)tcfs	p.V1164fs	GAK_ENST00000511163.1_Frame_Shift_Del_p.V1085fs|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1164					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGTGCGCGGACCCCCCGCTCC	0.592													8	3116	---	---	---	---					
DGKQ	1609	broad.mit.edu	37	4	956369	956369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:956369delC	ENST00000273814.3	-	18	2141	c.2068delG	c.(2068-2070)cgfs	p.A690fs		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	690	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGTAGCCCGCCCCCCAGCGG	0.657													8	2126	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1936885	1936885	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1936885delA	ENST00000503128.1	+	7	1777	c.1570delA	c.(1570-1572)aafs	p.K525fs	WHSC1_ENST00000420906.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000514045.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000382895.3_Frame_Shift_Del_p.K525fs|WHSC1_ENST00000398261.1_Frame_Shift_Del_p.K525fs			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	525					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTAAATGGGAAAAAAAGAAA	0.463			T	IGH@	MM								9	902	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4018-4023)aaccccfs	p.NP1340fs	WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.NP688fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.NP1340fs|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1340					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM								7	573	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													8	277	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								15	215	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggfs	p.G907fs	ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	1346	---	---	---	---					
CD14	929	broad.mit.edu	37	5	140012532	140012534	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140012532_140012534delGCA	ENST00000302014.6	-	2	664_666	c.35_37delTGC	c.(34-39)ccg>c	p.LP12del	CD14_ENST00000401743.2_In_Frame_Del_p.LP12del	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	12					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	p.P13S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCAGCGGCAGCAGCAGCAG	0.635													7	173	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													7	1124	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													9	653	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													14	1288	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													7	602	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													8	354	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8198251	8198251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:8198251delT	ENST00000402384.3	-	7	877	c.611delA	c.(610-612)acfs	p.N204fs	ICA1_ENST00000396675.3_Frame_Shift_Del_p.N204fs|ICA1_ENST00000407906.1_Frame_Shift_Del_p.N204fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000265577.7_Frame_Shift_Del_p.N203fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.N204fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.N192fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTGTCAAAGTTTTTTTTTGC	0.378													8	313	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													8	465	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72685489	72685489	+	RNA	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:72685489delA	ENST00000425256.1	-	0	120					NR_002164.1																						actccatctcaaaaaaaaaaa	0.443													10	102	---	---	---	---					
PRSS1	5644	broad.mit.edu	37	7	142458419	142458421	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142458419_142458421delTGA	ENST00000486171.1	+	2	71_73	c.54_56delTGA	c.(52-57)ttt>tt	p.FD18del	PRSS1_ENST00000311737.7_In_Frame_Del_p.FD18del			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	18					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTGCCCCCTTTGATGATGATGAC	0.527													148	956	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													9	37	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:151874148delT	ENST00000355193.2	-	38	8608	c.8390delA	c.(8389-8391)agfs	p.K2797fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs					lysine (K)-specific methyltransferase 2C									p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348													16	297	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													13	132	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													10	527	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	680	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													11	545	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													8	484	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													9	226	---	---	---	---					
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs150805048		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:37424907_37424908insG	ENST00000607784.1	+	2	154_155	c.149_150insG	c.(148-150)gggfs	p.G50fs	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658													7	257	---	---	---	---					
HABP4	22927	broad.mit.edu	37	9	99250415	99250416	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:99250415_99250416insC	ENST00000375249.4	+	7	1119_1120	c.1044_1045insC	c.(1042-1047)aaccgcfs	p.R349fs	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	349					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				TTTTCCGGAAACCCGCCAATGA	0.530													9	546	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)ggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													9	695	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													12	255	---	---	---	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607													7	453	---	---	---	---					
PNLIP	5406	broad.mit.edu	37	10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)tagfs	p.*329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	329					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401													124	270	---	---	---	---					
INPP5F	22876	broad.mit.edu	37	10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-585)gagfs	p.E195fs	INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.E99fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.E195fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	195	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCACTGGGGAGAGGGACGGTC	0.500													129	444	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													8	657	---	---	---	---					
TSPAN4	0	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													11	453	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)acfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								11	914	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:61183765_61183767delAGG	ENST00000340437.4	-	6	984_986	c.904_906delCCT	c.(904-906)del	p.P302del	CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611													8	206	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													7	679	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													7	360	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													7	295	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)cggfs	p.R203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609													7	420	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													7	322	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													7	1159	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097																											CTTCCCAATGAGAATCTCTGAA	0.426													7	108	---	---	---	---					
ADAL	161823	broad.mit.edu	37	15	43641114	43641115	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:43641114_43641115insA	ENST00000422466.2	+	11	1217_1218	c.643_644insA	c.(643-645)aaafs	p.K215fs	ADAL_ENST00000389651.4_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000562188.1_Frame_Shift_Ins_p.K215fs|ADAL_ENST00000428046.3_Frame_Shift_Ins_p.K188fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455													8	215	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	80	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)aafs	p.Q814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGGAGGTTGGGGGGGTGGG	0.577													7	653	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)del	p.Q113del	RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													7	208	---	---	---	---					
ITGAL	0	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													13	874	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													7	244	---	---	---	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67693646_67693648delGCA	ENST00000219251.8	-	3	873_875	c.542_544delTGC	c.(541-546)cag>c	p.LQ181del	ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													9	534	---	---	---	---					
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1773)caafs	p.Q591fs	ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411													10	743	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													8	1233	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													7	198	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													8	259	---	---	---	---					
TAF1C	9013	broad.mit.edu	37	16	84213941	84213942	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:84213941_84213942delAG	ENST00000567759.1	-	12	1577_1578	c.1395_1396delCT	c.(1393-1398)ctacfs	p.LY465fs	TAF1C_ENST00000378541.4_Frame_Shift_Del_p.LY465fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.LY372fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.LY439fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.LY133fs	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	465					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCACTAGGTAGAGAGAGAACT	0.668													2	4	---	---	---	---					
UPF3AP2	0	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													12	8	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													8	887	---	---	---	---					
PSMD11	5717	broad.mit.edu	37	17	30806379	30806379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:30806379delT	ENST00000261712.3	+	10	1286	c.1023delT	c.(1021-1023)ccfs	p.P341fs	PSMD11_ENST00000457654.2_Frame_Shift_Del_p.P341fs	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	341	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TCATTGAGCCTTTTTCCAGAG	0.507													8	1040	---	---	---	---					
RP11-156P1.3	0	broad.mit.edu	37	17	45128629	45128629	+	RNA	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45128629delT	ENST00000575173.1	-	0	418																											TTCTGGTGTGtttttttttgt	0.333													9	201	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													17	454	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56056605_56056607delTGC	ENST00000584396.1	-	5	1105_1107	c.1017_1019delGCA	c.(1015-1020)caa>ca	p.QQ343del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	352	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													7	580	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56060674	56060674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56060674delA	ENST00000584396.1	-	2	175	c.87delT	c.(85-87)ccfs	p.P29fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.P38fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473													17	381	---	---	---	---					
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:76993313delT	ENST00000302345.2	-	2	886	c.392delA	c.(391-393)agfs	p.K131fs	CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs|CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								7	1361	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGGGGGACGGAAAAAAAAGGT	0.632													7	334	---	---	---	---					
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)ctfs	p.P164fs	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													7	219	---	---	---	---					
ZNF799	90576	broad.mit.edu	37	19	12502590	12502590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:12502590delA	ENST00000419318.1	-	4	1275	c.526delT	c.(526-528)ggfs	p.W176fs	ZNF799_ENST00000430385.3_Frame_Shift_Del_p.W208fs|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAACTGGGCCAAAAAAACGCT	0.413													9	464	---	---	---	---					
RAB3A	5864	broad.mit.edu	37	19	18311123	18311151	+	Splice_Site	DEL	TGGGGTACACTCACCAGTCCTGCACTGCA	TGGGGTACACTCACCAGTCCTGCACTGCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:18311123_18311151delTGGGGTACACTCACCAGTCCTGCACTGCA	ENST00000222256.4	-	3	511_526	c.347_splice	c.e3+1	p.111_splice	RAB3A_ENST00000464076.2_Splice_Site_p.16_splice	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	111					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						aaagaGCAAGTGGGGTACACTCACCAGTCCTGCACTGCATTGAAGGATT	0.528													21	209	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)tafs	p.I255fs	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													12	623	---	---	---	---					
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:22002025_22002026insA	ENST00000594012.1	-	5	500		c.e5-2		ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386													7	319	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													7	536	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													12	411	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													8	246	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													9	273	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-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			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						CATCATTtgttgctgctgctgct	0.576													10	349	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33588844	33588844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33588844delG	ENST00000262873.7	+	39	5576	c.5484delG	c.(5482-5484)ctfs	p.L1828fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1786						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGCACACCTGGAACGGATGA	0.652													91	210	---	---	---	---					
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)aca>ac	p.TT279del	APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													7	156	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885876	29885877	+	In_Frame_Ins	INS	-	-	GAAGAA	rs59890097		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:29885876_29885877insGAAGAA	ENST00000310624.6	+	4	2280_2281	c.2247_2248insGAAGAA	c.(2245-2250)aaccaa>aaGAAGAAccaa	p.748_749insKK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	754	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGCCAAGTCCCC	0.550													9	348	---	---	---	---					
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299													13	231	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													7	143	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176_splice	c.e28+1	p.1392_splice	KDM6A_ENST00000536777.1_Splice_Site_p.1347_splice|KDM6A_ENST00000543216.1_Splice_Site_p.1313_splice|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.1399_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1392					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTTACATTAGTAAGTCAAATCAACATGT	0.376			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								41	185	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													10	346	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	153	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													11	670	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													7	1763	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													9	197	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													8	476	---	---	---	---