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
PLXNA1	5361	broad.mit.edu	37	3	126708251	126708251	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:126708251C>T	ENST00000251772.4	+	1	815	c.746C>T	c.(745-747)gCc>gTc	p.A249V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.A272V			Q9UIW2	PLXA1_HUMAN	plexin A1	272	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCTGATGCCGCCGGCGAG	0.572000													6	513					0	0	1	0	0
CROCCP3	0	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1																						CCCGGCACCTTCTCAGGAGCT	0.632000													4	44					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCATGCGGCCCCTGGC	0.493000													6	261					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192582	62192582	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:62192582C>T	ENST00000467148.1	-	14	7068	c.6999G>A	c.(6997-6999)cgG>cgA	p.R2333R	HELZ2_ENST00000427522.2_Silent_p.R1764R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGACCTCATGCCGGTCCAGCT	0.627000													5	343					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132466657G>A	ENST00000333577.4	+	6	1780	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000330386.6_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592000													6	1013					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977594	13977594	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:13977594C>T	ENST00000488300.1	+	3	767	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	RNF182_ENST00000544682.1_Missense_Mutation_p.P82S|RNF182_ENST00000537663.1_Missense_Mutation_p.P82S|RNF182_ENST00000537388.1_Missense_Mutation_p.P82S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	82						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TAGTAGCCTGCCCGATGACAA	0.512000													6	416					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597000													5	222					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													9	150					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:150444176G>A	ENST00000401000.4	+	10	2739	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	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						TGCCTTCAGCGTAAGAGGGAA	0.507000													6	828					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494548	45494548	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45494548C>T	ENST00000541297.2	+	12	1895	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V|CLPTM1_ENST00000337392.5_Missense_Mutation_p.A491V			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	491					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCTGCTATGCCGTCTACAGT	0.637000													6	825					0	0	1	0	0
FEN1	2237	broad.mit.edu	37	11	61563230	61563230	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61563230G>A	ENST00000305885.2	+	2	810	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	133	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGGTGAAGGTCACTAAGCA	0.587000								Editing and processing nucleases					5	355					0	0	1	0	0
PI4KAP2	0	broad.mit.edu	37	22	21829555	21829555	+	RNA	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:21829555T>G	ENST00000450651.1	-	0	1783																		p.I530L(4)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000													3	33					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158672580	158672580	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158672580G>A	ENST00000407559.3	+	5	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAGAAAAGCGACACAAAGAA	0.398000													5	169					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602000													6	247					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843029	112843029	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:112843029T>C	ENST00000424576.2	-	7	1051	c.866A>G	c.(865-867)tAa>tGa	p.*289*	RPL6_ENST00000202773.9_Silent_p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	0					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TTAAGACATTTAGAACACCAA	0.333000													4	162					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													16	368					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361883	140361883	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:140361883G>A	ENST00000406427.1	-	26	3261	c.2925C>T	c.(2923-2925)tgC>tgT	p.C975C	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.C556C|PNPLA7_ENST00000277531.4_Silent_p.C950C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	950	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAGGGATGCCGCACTCCGCCA	0.657000													5	285					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75665392	75665392	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:75665392G>A	ENST00000319410.5	-	10	1379	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R392W	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	392					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTGATTCGCCGGAAGGGTGGG	0.522000													6	405					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:3188908T>C	ENST00000400569.3	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000356443.4_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T			P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532000													5	384					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V		NM_172139.2	NP_742151.2			interferon, lambda 3																		CAGAAGCGACTCTTCCTAGAC	0.617000													4	75					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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													9	1158					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular region	protein binding	p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													52	164					0	0	1	0	0
ABHD12B	145447	broad.mit.edu	37	14	51370808	51370808	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:51370808G>A	ENST00000337334.2	+	12	974	c.959G>A	c.(958-960)cGc>cAc	p.R320H	ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	320							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAAATTGCACGCAATGCATAC	0.428000													5	551					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													8	393					6.72482e-11	7.15669e-11	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151921149	151921149	+	Nonsense_Mutation	SNP	G	G	A	rs4024370		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:151921149G>A	ENST00000355193.2	-	20	3492	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1092*					lysine (K)-specific methyltransferase 2C																		CTATAGTTTCGATAGCAGACT	0.388000													5	250					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779374	52779374	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:52779374C>T	ENST00000396947.3	+	3	484	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000256759.3_Silent_p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	106	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537000													4	176					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29646028	29646028	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:29646028G>A	ENST00000247270.3	-	3	409	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.P2S|EVI2A_ENST00000462804.2_Missense_Mutation_p.P2S|NF1_ENST00000581113.2_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	2						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		ATGTCCGTGGGCATGCTTGGC	0.378000													6	772					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234606951	234606951	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:234606951G>A	ENST00000040877.1	-	3	1081	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	361					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCTGACACCGCATATTCAAA	0.279000													4	195					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67163738	67163738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:67163738G>A	ENST00000307980.2	+	9	832	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	247					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCAGGCCCGCCATCTTCAC	0.632000								Other conserved DNA damage response genes					8	898					0	0	1	0	0
AP005901.1	0	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:15323347T>C	ENST00000455308.2	-	0	501					NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303000													5	32					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	780576	780576	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:780576G>A	ENST00000540986.1	-	10	2401	c.966C>T	c.(964-966)taC>taT	p.Y322Y	NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000251588.2_Silent_p.Y424Y			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	424					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGACCATGCCGTACAGTCTCT	0.682000													6	401					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	44					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:31091658G>A	ENST00000394979.2	+	1	4436	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1338H			O15015	ZN646_HUMAN	zinc finger protein 646	1338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTCCAACCGCATGGCCCTG	0.697000													4	240					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348992	150348992	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTATGCGGCACCCTAT	0.542000													6	767					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146563588	146563588	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146563588G>A	ENST00000281317.5	+	3	1723	c.513G>A	c.(511-513)ggG>ggA	p.G171G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	171						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAGAGAGGGCACAAATTAT	0.428000													6	778					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V|DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTTCTCCGGCATGTTTGAA	0.582000													6	833					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109807082	109807082	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109807082C>T	ENST00000271332.3	+	11	5357	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1766	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGGGTGTGCGGGTGAGCGA	0.652000													5	252					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17861218	17861218	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:17861218G>A	ENST00000409389.1	-	18	1964	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	SNX13_ENST00000428135.3_Missense_Mutation_p.R587W|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	598	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGGTTGCGCCGGTGTACAGTG	0.403000													5	326					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56918048	56918048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:56918048G>A	ENST00000438926.2	+	14	1786	c.1757G>A	c.(1756-1758)tGg>tAg	p.W586*	SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.W585*|SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.W586*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.W585*	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	586					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCCTCACCTGGTGGGCGGCC	0.602000													5	256					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76358920	76358920	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:76358920G>A	ENST00000312916.7	+	14	2370	c.1988G>A	c.(1987-1989)gGc>gAc	p.G663D		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	663	G-patch.				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTGGGGACAGGCAAACCATCC	0.428000													8	1038					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39009888	39009888	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39009888G>A	ENST00000355481.4	+	67	10184	c.10053G>A	c.(10051-10053)ccG>ccA	p.P3351P	RYR1_ENST00000360985.3_Silent_p.P3351P|RYR1_ENST00000359596.3_Silent_p.P3351P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3351					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGCACGGCCGGAGCTCCTGC	0.662000													5	439					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													6	612					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	480					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031791	27031791	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:27031791G>A	ENST00000301039.2	-	2	355	c.162C>T	c.(160-162)ttC>ttT	p.F54F	PROCA1_ENST00000439862.3_Silent_p.F56F|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	82					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGTCAGAGGCGAAAGGGTAGA	0.587000													5	337					0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99982344	99982344	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:99982344C>T	ENST00000296411.6	+	11	1171	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	METAP1_ENST00000544031.1_Missense_Mutation_p.A296V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	346					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GGTTGGACTGCGGTGACAAGA	0.488000													5	540					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115152024	115152024	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:115152024G>A	ENST00000250535.4	-	1	627	c.71C>T	c.(70-72)gCc>gTc	p.A24V	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	24					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTCATCGCCGGCAAAGAGCTG	0.612000													6	793					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71012702	71012702	+	Translation_Start_Site	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:71012702C>T	ENST00000357250.6	-	0	84				COL9A1_ENST00000370496.3_De_novo_Start_InFrame	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTCCCCTCACGACCCCTTCA	0.522000													7	190					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287774	16287774	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:16287774T>C	ENST00000343518.6	-	1	163	c.112A>G	c.(112-114)Agc>Ggc	p.S38G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	38										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTCTTGCCGCTCCCCCTGCAC	0.592000													8	1308					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25056996	25056996	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:25056996C>T	ENST00000376709.4	-	5	1262	c.999G>A	c.(997-999)cgG>cgA	p.R333R	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	333					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGTCTCCTGCCGGGCAGAGC	0.592000													5	278					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45133064	45133064	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:45133064C>T	ENST00000403581.1	+	10	1782	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.G368G|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TTGACTTTGGCCGGGGCCGGG	0.632000													5	464					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													8	331					0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522000													8	1007					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908580	24908580	+	Silent	SNP	C	C	T	rs61758698	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:24908580C>T	ENST00000396432.2	-	9	2730	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	ARHGAP21_ENST00000320481.6_Silent_p.P535P	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	747					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTAAAGGCTGCGGTGTCTGGC	0.473000													5	465					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													4	294					0.000602214	0.000607451	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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)			11	1847					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:55089019G>A	ENST00000302250.2	-	1	210	c.50C>T	c.(49-51)gCc>gTc	p.A17V	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	17						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGTAATGCCGGCAAACACCCA	0.602000													5	592					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226182980	226182980	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:226182980G>A	ENST00000366817.1	-	2	234	c.71C>T	c.(70-72)gCg>gTg	p.A24V	SDE2_ENST00000272091.7_Silent_p.C75C					SDE2 telomere maintenance homolog (S. pombe)																		CTTTTCCACCGCAAAGTCTGG	0.403000													5	433					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418000													6	813					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784422	42784422	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:42784422C>T	ENST00000310232.6	-	8	1036	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	318										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCCAGGCTGCGGATCCTCAG	0.577000													5	714					0	0	1	0	0
AP005901.1	0	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:15323336G>A	ENST00000455308.2	-	0	512					NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289000													6	31					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35376164	35376164	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:35376164G>A	ENST00000378495.3	+	14	1730	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R515Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R503Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	503					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.R503Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGCATTGCCCGGCAGGGCATG	0.582000													5	390					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463000													7	994					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													6	362					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74943482	74943482	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:74943482G>A	ENST00000262144.6	-	16	1689	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	520										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGTCACCCGCGCAAACGTCGG	0.552000													5	562					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45996481	45996481	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45996481C>T	ENST00000590526.1	-	5	1274	c.148G>A	c.(148-150)Gca>Aca	p.A50T	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|RTN2_ENST00000430715.2_5'UTR			O75298	RTN2_HUMAN	reticulon 2	324						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGGATTTTGCCCACTTCAGT	0.617000													6	763					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									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)		TACATCTTTCAGGAGCTTGGT	0.388000													5	401					0	0	1	0	0
AP005901.1	0	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:15323340A>G	ENST00000455308.2	-	0	508					NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299000													6	31					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													7	651					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2077712	2077712	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:2077712C>T	ENST00000382203.1	+	14	2329	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	SMARCA2_ENST00000357248.2_Missense_Mutation_p.A707V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A707V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A707V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	707					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTGGCTCATGCCATCTCGGAG	0.498000													4	151					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978521	54978521	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:54978521G>A	ENST00000375006.3	-	8	733	c.663C>T	c.(661-663)ttC>ttT	p.F221F	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	221	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGCCCACGTCGAAGATCTTGA	0.567000													4	173					0	0	1	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779957	12779957	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:12779957G>A	ENST00000596731.1	-	2	2093	c.141C>T	c.(139-141)tgC>tgT	p.C47C	WDR83_ENST00000418543.3_Intron|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83OS_ENST00000222190.5_Silent_p.C47C	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	47						integral to membrane											GCATGAGGCCGCACATGCTGA	0.612000													5	326					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													7	1210					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17172170	17172170	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:17172170C>T	ENST00000265970.7	-	3	1201	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	401					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R401H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGGGTTTGTGCGGTGATTGGT	0.373000													4	254					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													5	179					8.12818e-05	8.27078e-05	1	1	0
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:63206625C>T	ENST00000449996.3	+	17	1372	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	RGS9_ENST00000443584.3_Missense_Mutation_p.R434W|RGS9_ENST00000262406.9_Missense_Mutation_p.R437W	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572000													8	501					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113652987	113652987	+	Missense_Mutation	SNP	G	G	A	rs145758987		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:113652987G>A	ENST00000361127.4	+	13	1799	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	534	Ig-like C2-type 1.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACTGTGTGGCGCAAAGACAGT	0.448000													5	527					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885739	29885739	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:29885739T>A	ENST00000310624.6	+	4	2143	c.2110T>A	c.(2110-2112)Tcc>Acc	p.S704T		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	710	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						AGAAGCAAAGTCCCCTGAGAA	0.557000													5	472					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													13	154					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	rs1047054	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438000													4	177					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266371	68266371	+	Missense_Mutation	SNP	C	C	T	rs146812395		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:68266371C>T	ENST00000473183.2	-	8	1395	c.857G>A	c.(856-858)cGc>cAc	p.R286H	ESRP2_ENST00000565858.1_Missense_Mutation_p.R296H			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	296	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCATTTCTGCGGCCCTGGGC	0.632000													5	289					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													10	71					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78285426	78285426	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:78285426C>T	ENST00000238561.5	+	2	204	c.105C>T	c.(103-105)ggC>ggT	p.G35G	ADCK1_ENST00000341211.5_Silent_p.G35G	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	35						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGACTTTGGCGCTGTCAGGG	0.512000													5	343					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													7	363					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16794820	16794820	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:16794820G>A	ENST00000513610.1	-	4	856	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	134	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGCGATGGCGAAGATGTGCG	0.652000													4	119					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473000													7	1182					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													4	90					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:47207828C>A	ENST00000355232.3	-	5	3467	c.455G>T	c.(454-456)aGc>aTc	p.S152I	AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264000													4	123					0.217242	0.217242	1	1	0
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:17942265A>C	ENST00000474627.3	-	1	217	c.63T>G	c.(61-63)ggT>ggG	p.G21G	ATPAF2_ENST00000585101.1_Silent_p.G21G	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672000													13	63					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													5	582					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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	205					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5664054	5664054	+	Silent	SNP	G	G	A	rs145778900		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:5664054G>A	ENST00000292123.5	+	16	2282	c.2175G>A	c.(2173-2175)ccG>ccA	p.P725P	SAFB_ENST00000454510.1_Silent_p.P656P|SAFB_ENST00000433404.1_Silent_p.P555P|SAFB_ENST00000538656.1_Silent_p.P567P|SAFB_ENST00000588852.1_Silent_p.P725P|SAFB_ENST00000592224.1_Silent_p.P724P	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	725	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCTATTGGCCGGAAGCCAAGC	0.602000													4	330					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	150					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	497	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													15	244	---	---	---	---					
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:191161629delT	ENST00000392332.3	-	3	268	c.129delA	c.(127-129)aafs	p.K43fs	HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													8	204	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													7	547	---	---	---	---					
TREX1	11277	broad.mit.edu	37	3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:48508192delC	ENST00000296443.9	+	3	1025	c.138delC	c.(136-138)agfs	p.S46fs	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000422277.2_Frame_Shift_Del_p.S101fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000433541.1_5'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	101					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCTGGAGAGCCCCCCCACCT	0.647													8	780	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	GCC	-	rs56041243		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:49395674_49395676delGCC	ENST00000419783.1	-	1	357_359	c.36_38delGGC	c.(34-39)gcc>gc	p.AA12del	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	12					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	p.A12_A13delAA(1)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													10	12	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	480	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	200	---	---	---	---					
CCHCR1	54535	broad.mit.edu	37	6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-	rs140560656		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31110764_31110766delCTG	ENST00000396268.3	-	17	2653_2655	c.2465_2467delCAG	c.(2464-2469)gtg>g	p.AV822del	CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532													7	1652	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	748	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31973891	31973891	+	RNA	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31973891delT	ENST00000342991.6	+	0	479					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										cttaaacaaattttttttttg	0.493													8	101	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													8	191	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)gafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398													7	1148	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													7	402	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)taafs	p.*299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML								10	407	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs147429736	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330																											gtgtgtgtgtctgagtgtgtctgt	0.392													13	123	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:72667747delT	ENST00000425256.1	-	0	633					NR_002164.1																						tttttttttcttttttttttt	0.388													7	76	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													16	438	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aafs	p.K1408fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCGGAGTTGTTTTTTTAGCG	0.408													7	922	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:124384892_124384893insT	ENST00000287394.5	-	3	461_462	c.354_355insA	c.(352-357)aaaagafs	p.R119fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		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)			CTGTGCTCTTCTTTTTTTTTAT	0.267													7	433	---	---	---	---					
CYP11B2	1585	broad.mit.edu	37	8	143993951	143993953	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:143993951_143993953delGCA	ENST00000323110.2	-	8	1393_1395	c.1391_1393delTGC	c.(1390-1395)cac>c	p.LH464del		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	464					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I				8	335	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)agfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478													8	447	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gag>ga	p.EL1155del		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1155	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616													7	716	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													9	221	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													9	476	---	---	---	---					
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)atfs	p.N110fs	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423													7	928	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					18	501	---	---	---	---					
RP11-248G5.8	0	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							cgctattgctccccacccatc	0.537													10	59	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													9	577	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													8	49	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													8	191	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													13	334	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													7	416	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	287	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	702	---	---	---	---					
AMZ2P1	0	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1																						TTGGTTGGAATTTTTTTCCCT	0.333													10	176	---	---	---	---					
HELZ	9931	broad.mit.edu	37	17	65134199	65134199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:65134199delA	ENST00000358691.5	-	22	2967	c.2801delT	c.(2800-2802)tafs	p.L934fs	HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTTCCTTCTTAACTCTTCTAC	0.388													7	437	---	---	---	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)del	p.Q161del	CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													8	221	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:50156709_50156711delGGA	ENST00000360565.3	+	7	3187_3189	c.3063_3065delGGA	c.(3061-3066)gcg>gc	p.AE1021del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1021	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGGTGGGGCggaggaggaggag	0.655													7	52	---	---	---	---					
MIR3648	0	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													6	8	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													9	284	---	---	---	---					
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)ctg>c	p.QL412del	HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581													8	234	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24129357	24129359	+	Translation_Start_Site	DEL	ATG	ATG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:24129357_24129359delATG	ENST00000344921.6	+	0	208_210				SMARCB1_ENST00000263121.7_Start_Codon_Del|SMARCB1_ENST00000407422.3_Start_Codon_Del|SMARCB1_ENST00000407082.3_Start_Codon_Del			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1						cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TGCCGCCGCAATGATGATGATGG	0.695			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							7	220	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													14	580	---	---	---	---					
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs			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													7	225	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													10	320	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)agfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532													7	1137	---	---	---	---					
