Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													11	70					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													8	223					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													13	75					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097426	85097426	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:85097426G>A	ENST00000335459.5	-	2	797	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TTCCTCAGCCGCTCAGCCTCC	0.517000													6	715					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													9	1144					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32581568	32581568	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:32581568C>T	ENST00000319778.6	-	5	973	c.671G>A	c.(670-672)cGc>cAc	p.R224H	EPC1_ENST00000263062.8_Missense_Mutation_p.R224H|EPC1_ENST00000375110.2_Missense_Mutation_p.R174H	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	224					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCATTTTTGCGATTCTGCAA	0.313000													4	242					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169446049	169446049	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1106	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGGAAAGCCACCATACCAA	0.453000													148	749					1.04528e-42	1.10941e-42	1	1	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													8	281					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363690	20363690	+	Missense_Mutation	SNP	C	C	T	rs144269928	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363690C>T	ENST00000423676.3	-	2	169	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	LGALS9B_ENST00000324290.5_Missense_Mutation_p.A36T			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	36	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGAGAACGGCCCCATTGACA	0.562000													8	283					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000535254.1	-	7	668	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	BUB1_ENST00000302759.6_Missense_Mutation_p.V221M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	221					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GATGAGTGCACAGAATATTCT	0.368000													68	347					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000393504.1	+	8	1572	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000272602.2_Missense_Mutation_p.F385L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	385					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCGTAGACTTCTTGGTGGGTG	0.498000													72	232					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	376273	376273	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000432829.2	+	19	2285	c.1969G>C	c.(1969-1971)Gaa>Caa	p.E657Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E725Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	725					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTAATATTGAAGTGCAAGC	0.408000													5	404					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36316600	36316600	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:36316600C>T	ENST00000373210.3	+	17	2668	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GCATATTATGCCCGGCTTGTA	0.448000													4	107					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													8	225					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													5	153					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522000													5	306					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	294					0	0	1	0	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													10	880					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498943	73498943	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:73498943G>A	ENST00000321617.3	-	18	2798	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	738	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTAGGGGGCCGCTCTGTGCCC	0.657000													5	532					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	389	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCGATGACCTCACCATGGTG	0.667000													39	217					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76788861	76788861	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:76788861G>A	ENST00000287239.4	+	18	4768	c.4279G>A	c.(4279-4281)Gat>Aat	p.D1427N	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1427					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCATGATGCCGATGACGAGGA	0.493000													4	232					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:123333078G>A	ENST00000360772.3	-	34	5844	c.5466C>T	c.(5464-5466)tgC>tgT	p.C1822C	MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498000													6	733					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	C	T	rs2262202		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082																											AGCCTTCCGCCGGGCCAGCAG	0.672000													10	72					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363711	20363711	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363711A>G	ENST00000423676.3	-	2	148	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.F29L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	29	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GTGATCTGAAATCCGTCCTGG	0.572000													4	262					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74115486	74115486	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	245						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATTTGATGACGCCTTTCAAT	0.353000													43	180					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													8	206					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692000													72	563					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													11	119					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAACTCATGCGCAGCAACAAG	0.423000													7	521					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	297					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721954	721954	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	350					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGCACAGTCCGCACAGAGGCC	0.692000													6	481					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000438796.2	+	9	1200	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000425562.2_Missense_Mutation_p.E386Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	386	Poly-Glu.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CGCAGAGGAAGAGGAGGCCGA	0.502000													37	402					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478000													7	534					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TAP1_ENST00000425148.2_Missense_Mutation_p.S171L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	432	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGGCATGGCCGACAGAGCCTC	0.532000													4	206					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000356711.2	+	31	4108	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000357550.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1328					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCGGCCAACGAAGGTCAGCC	0.662000													18	114					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18195833	18195833	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:18195833C>T	ENST00000380033.4	-	10	1618	c.1486G>A	c.(1486-1488)Gta>Ata	p.V496I	BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	496	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATTTTGTACGGCCAGCAAA	0.383000													7	905					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													7	107					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	93					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512000													50	221					0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55966783	55966783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:55966783C>A	ENST00000356208.5	+	1	321	c.146C>A	c.(145-147)tCg>tAg	p.S49*	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	49	RRM.				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCGACGCCTCGCTCAGGAAG	0.677000													8	32					1.12685e-05	1.18149e-05	1	1	0
COIL	8161	broad.mit.edu	37	17	55019406	55019406	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:55019406T>A	ENST00000240316.4	-	6	1671	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	546						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTGCTCTCCTGTGTCACAGC	0.468000													4	312					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562000													6	417					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								5	153					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	826					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCAGCTGTCTCCAGGCATT	0.398000													23	164					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	299	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGTACACCGTGCGCTATCGA	0.463000													138	492					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													12	134					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGACCTTATGGATGCAGTCAG	0.403000													57	286					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													6	312					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084376	99084376	+	Silent	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGGCAAACCCTTCAATCAAA	0.428000													11	452					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													5	84					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													7	485					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33419620	33419620	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:33419620A>C	ENST00000418600.2	+	19	4070	c.3969A>C	c.(3967-3969)ccA>ccC	p.P1323P	SYNGAP1_ENST00000428982.2_Silent_p.P1264P|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1323					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCCAGCCCCACCACCCCCAC	0.627000													4	21					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	190					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCAGAAGGCCGTGTAGCC	0.592000													24	112					0	0	1	0	0
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328000													7	402					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3346	LDL-receptor class A 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617000													72	215					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													7	253					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|RP11-603J24.9_ENST00000548861.1_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1301					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGACATCAGGCCCCCCAT	0.537000													6	717					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35463185	35463185	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	ISX_ENST00000404699.2_Silent_p.A35A|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCATTGAGGCGATCCTAAAGA	0.602000													11	69					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68501258	68501258	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.4	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	585					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAGAGGCCTTAGATTTGCTA	0.358000													4	326					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000408937.3	+	16	2256	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393494.2_Missense_Mutation_p.G603C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	603					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TACCAGTTTAGGCTATGGAGC	0.303000													6	397					0.000157383	0.000163038	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													10	783					2.31682e-05	2.41452e-05	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	143					0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	126	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCCTTTGCCTCAAGTAC	0.746000													3	41					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	276						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGACAGTTCTATGCCATAACA	0.507000													132	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000													4	276					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63449189	63449189	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	27					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CGCCCGGCGGCGGCGGGAGCC	0.746000													30	123					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													20	420					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													5	155					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	881					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTTGACTCTGAAAGCATGAG	0.473000													92	499					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110172959	110172959	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000393688.3_Silent_p.P631P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617000													125	538					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000													5	411					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453000													5	596					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													8	227					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662878	662878	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	597						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTGGCGGCCGCAGGCCAGGA	0.617000													4	227					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1505						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGGGTTTCTGAGGTTTCTTG	0.388000													147	777					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000314537.5	+	7	803	c.578C>T	c.(577-579)gCc>gTc	p.A193V	CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000398285.3_Missense_Mutation_p.A222V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGTGACAGCCGCCTACAAC	0.632000													5	363					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887241	12887241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:12887241G>A	ENST00000535591.1	-	3	811	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAACGTAGCGAGAGACATCC	0.493000													199	830					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17669530	17669530	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTACAGAATTCAGAGGAGAAG	0.328000													85	360					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	428					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671524	151671524	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000402676.2	+	4	2238	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000253332.1_Silent_p.P666P|AKAP12_ENST00000354675.6_Silent_p.P568P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCCAAAGCCGGAAGAACCAA	0.493000													4	223					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGATGCTGCGGGTAAAGCT	0.592000													29	332					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTACCCGGCAAAAGGATG	0.403000													5	446					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	171						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCATGCCTTCCGGGATGCCCG	0.711000													17	75					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	617					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGGAGTACAGAGATGGGGGG	0.443000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	109					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341863	121341863	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	529					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTCCCCCAGGGCAAAAGGCAA	0.498000													5	273					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													10	1224					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													14	200					0	0	1	0	0
GOLGA8DP	0	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													5	573					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473000													7	691					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160738720	160738720	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:160738720C>A	ENST00000263636.4	-	7	1188	c.1161G>T	c.(1159-1161)gcG>gcT	p.A387A	LY75_ENST00000554112.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTGCATTTCGCATGTGCCT	0.423000													121	618					2.84668e-63	3.07798e-63	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	734					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGCTCCGTCGCTGGGCTAAG	0.458000													33	103					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													6	509					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													6	240					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67303362	67303362	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:67303362T>G	ENST00000371023.3	-	10	1620	c.1612A>C	c.(1612-1614)Atc>Ctc	p.I538L	WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371026.3_Intron	NM_207014.2	NP_996897.2	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	0										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AACAGCCAGATAAAAATGCTT	0.299000													59	176					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCGGAATCTGCCTGGAGCATG	0.403000													48	485					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121115981	121115981	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:121115981C>T	ENST00000437515.1	-	0	329																											CCACGGCCAACGTTCGCATTG	0.527000													3	37					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632000													129	606					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644380	53644380	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:53644380T>C	ENST00000452676.2	-	5	2130	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.K568K|ZNF347_ENST00000334197.7_Silent_p.K567K	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGTTTTTCTCCAG	0.413000													5	844					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													4	71					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000509894.1	+	5	1385	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000369798.2_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y			P33981	TTK_HUMAN	TTK protein kinase	186					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGCCCTGCGGAATTTAAACCT	0.363000													60	426					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			66	243					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_ENST00000370329.5_Silent_p.R181R|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000531258.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517000													6	506					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	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													10	1643					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000421115.1_Missense_Mutation_p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453000													6	408					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	279					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	291					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GAAATCATGCCGGCCTCAGAA	0.512000													5	434					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	1100					0	0	1	0	0
UBALD2	283991	broad.mit.edu	37	17	74261669	74261669	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:74261669C>A	ENST00000327490.6	+	1	387	c.83C>A	c.(82-84)gCg>gAg	p.A28E		NM_182565.3	NP_872371.1			UBA-like domain containing 2																		GCCGACCAGGCGAAGCAGTTG	0.771000													4	132					1	1	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	353					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCTGGACGACCTGCTGAC	0.552000													53	236					0	0	1	0	0
ITGA6	0	broad.mit.edu	37	2	173356027	173356027	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:173356027C>T	ENST00000375221.2	+	23	3177	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R992C			P23229	ITA6_HUMAN	integrin, alpha 6	992					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTATTTTGCGCTCGAGGTT	0.493000													6	555					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	433					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCAGAAGTCAACACTCAGCTT	0.473000													44	175					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2667	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAACCGCCCTCGGTATTGGAA	0.542000													81	241					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547000													5	368					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													8	498					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552067	178552067	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:178552067G>A	ENST00000251582.7	-	19	2966	c.2865C>T	c.(2863-2865)caC>caT	p.H955H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGTGCTTGGCGTGCACGGAGC	0.692000													6	848					0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	X	15870623	15870623	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:15870623G>A	ENST00000380291.1	-	2	141	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000329235.2_Missense_Mutation_p.R9C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	9					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					tttccctgacgactaaaAAGC	0.338000													5	483					0	0	1	0	0
CCDC149	91050	broad.mit.edu	37	4	24839847	24839847	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000504487.1	-	5	426	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.I140I|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	140										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GTCGCACGCCGATTGCTTCGT	0.483000													5	468					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356232	37356232	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	176					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647000													48	191					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690527	96690527	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	474					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTACCTTCTGATGCTTGAAGA	0.652000													25	675					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107546792	107546792	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000437604.2_Silent_p.A173A|DLD_ENST00000440410.1_Silent_p.A198A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	221					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TTATTGGTGCAGGAGTAATAG	0.348000													11	161					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000537465.1	-	13	2045	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K624N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	629										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTTGCTCTTCTTCAACTGCT	0.468000													320	951					0	0	1	0	0
IGLV1-51	0	broad.mit.edu	37	22	22677064	22677064	+	RNA	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:22677064C>T	ENST00000390290.2	+	0	128				LL22NC03-80A10.6_ENST00000426066.1_RNA																							TCAGTGTCTGCGGCCCCAGGA	0.572000													5	428					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000536433.1	-	1	3734	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000272223.2_Nonsense_Mutation_p.C208*			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	208					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGCTTTGTGGCAGATGTCAC	0.597000													6	334					0.217242	0.218505	1	1	0
SDHAP3	0	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													5	224					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567000													5	426					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819577	42819577	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:42819577G>A	ENST00000598766.1	+	8	703	c.703G>A	c.(703-705)Gca>Aca	p.A235T	TMEM145_ENST00000301204.3_Missense_Mutation_p.A211T			Q8NBT3	TM145_HUMAN	transmembrane protein 145	211						integral to membrane		p.A211T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTTCATGGCCGCAGCAggagt	0.532000													5	242					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gaaafs	p.EK24fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	24					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													12	650	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													12	287	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													12	354	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													7	47	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								7	565	---	---	---	---					
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													8	275	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													9	368	---	---	---	---					
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				7	381	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)cttfs	p.L1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401													8	646	---	---	---	---					
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)atfs	p.N1003fs	CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353													10	332	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)cat>ca	p.HH759del		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													7	320	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													8	754	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													7	905	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													11	332	---	---	---	---					
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	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													9	297	---	---	---	---					
GRM7	2917	broad.mit.edu	37	3	7621013	7621013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:7621013delT	ENST00000486284.1	+	8	2694	c.2420delT	c.(2419-2421)atfs	p.I807fs	GRM7_ENST00000402647.2_Frame_Shift_Del_p.I807fs|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Frame_Shift_Del_p.I807fs|GRM7_ENST00000389336.4_Frame_Shift_Del_p.I807fs|GRM7_ENST00000357716.4_Frame_Shift_Del_p.I807fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	807					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCATTCCAATTTTTTTTGGC	0.383													8	208	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77657038	77657038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:77657038delC	ENST00000461745.1	+	21	4126	c.3226delC	c.(3226-3228)ccfs	p.P1078fs	ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1078					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(1)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCTCTACCTCCCCCCCCAGT	0.433													7	346	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869089	122869089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:122869089delC	ENST00000316218.7	+	14	1246	c.1151delC	c.(1150-1152)gcfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGCCCTGAGGCCCCCCCGCCC	0.602													7	531	---	---	---	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)del	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								7	280	---	---	---	---					
ANTXR2	118429	broad.mit.edu	37	4	80905990	80905990	+	Frame_Shift_Del	DEL	C	C	-	rs12647691	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:80905990delC	ENST00000403729.2	-	13	1594	c.1069delG	c.(1069-1071)ccfs	p.A357fs	ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	357	Poly-Pro.		A -> P (in dbSNP:rs12647691).			endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTGCAGGGGCGGGTGGTGGT	0.348									Juvenile Hyaline Fibromatosis				8	84	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													8	401	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)					7	594	---	---	---	---					
BTN3A1	0	broad.mit.edu	37	6	26413416	26413416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:26413416delA	ENST00000289361.6	+	10	1406	c.1038delA	c.(1036-1038)ccfs	p.P346fs	BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Frame_Shift_Del_p.P294fs	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	346	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTGGATCCAAAAACAGCAA	0.517													8	476	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)cfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													9	271	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													10	844	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													10	212	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													10	719	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:102503431_102503432insA	ENST00000369138.1	+	15	3028_3029	c.2538_2539insA	c.(2536-2541)tcaaaafs	p.SK846fs	GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351													10	434	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108214755	108214755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:108214755delT	ENST00000369002.4	-	16	1784	c.1605delA	c.(1603-1605)aafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTA	0.343													16	525	---	---	---	---					
TRAF3IP2	10758	broad.mit.edu	37	6	111880693	111880693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:111880693delT	ENST00000368761.5	-	9	2091	c.1613delA	c.(1612-1614)acfs	p.N538fs	TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Del_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000359831.4_Frame_Shift_Del_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Del_p.N126fs|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000340026.6_Frame_Shift_Del_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	547	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGCAGGATGTTTTTTTTATT	0.547													11	568	---	---	---	---					
WISP3	8838	broad.mit.edu	37	6	112389434	112389434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:112389434delA	ENST00000361714.1	+	4	715	c.670delA	c.(670-672)aafs	p.K226fs	WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	208	TSP type-1.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACTTATTTGGAAAAAAAAATG	0.333													10	216	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)gafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_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	1268	---	---	---	---					
BCLAF1	9774	broad.mit.edu	37	6	136599515	136599515	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:136599515delT	ENST00000531224.1	-	4	756	c.504delA	c.(502-504)aafs	p.K168fs	BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K168fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K166fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K166fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	168					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCCTTCAGCTTTTTTGGTTT	0.423													7	1481	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													9	402	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													11	716	---	---	---	---					
C7orf57	136288	broad.mit.edu	37	7	48092369	48092371	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:48092369_48092371delGCA	ENST00000348904.3	+	7	890_892	c.678_680delGCA	c.(676-681)ttg>tt	p.LQ226del	C7orf57_ENST00000420324.1_In_Frame_Del_p.LQ255del|C7orf57_ENST00000430738.1_In_Frame_Del_p.LQ271del|C7orf57_ENST00000435376.1_In_Frame_Del_p.LQ88del|C7orf57_ENST00000539619.1_In_Frame_Del_p.LQ226del	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	226										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ATGAGTGGTTGCAGCAGCAGCAG	0.473													7	434	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													8	427	---	---	---	---					
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)ttfs	p.F227fs	STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393													9	491	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92760738	92760738	+	Frame_Shift_Del	DEL	T	T	-	rs10282508	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:92760738delT	ENST00000318238.4	-	5	5763	c.4547delA	c.(4546-4548)atfs	p.N1516fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.N1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).							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)			TTTGACTTCATTTTTTTTCCA	0.393													7	628	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													7	495	---	---	---	---					
TNFRSF10A	8797	broad.mit.edu	37	8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	344					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556													20	376	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	272	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)agfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													8	948	---	---	---	---					
ASPH	444	broad.mit.edu	37	8	62588724	62588726	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:62588724_62588726delTTC	ENST00000379449.6	-	5	694_696	c.520_522delGAA	c.(520-522)del	p.E174del	ASPH_ENST00000518068.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	0	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369													9	289	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													12	364	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													7	324	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													7	403	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974727	21974744	+	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	ENST00000304494.5	-	1	353_370	c.83_100delTGCGGGCGCTGCTGGAGG	c.(82-102)gcg>g	p.VRALLEA28del	CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLEA28del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLEA28del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCTAC	0.739		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			61	312	---	---	---	---					
PALM2-AKAP2	0	broad.mit.edu	37	9	112899370	112899372	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:112899370_112899372delCAG	ENST00000374530.3	+	8	1726_1728	c.1546_1548delCAG	c.(1546-1548)del	p.Q521del	PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del|AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		290							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						gaagcagttacagcagcagcagc	0.552													7	104	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													9	217	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													12	243	---	---	---	---					
PLAU	5328	broad.mit.edu	37	10	75673298	75673298	+	Splice_Site	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													8	1488	---	---	---	---					
PIPSL	0	broad.mit.edu	37	10	95719691	95719692	+	RNA	DEL	AA	AA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:95719691_95719692delAA	ENST00000480546.1	-	0	1605_1606					NR_002319.2																						TAGCATTTGCAAAGTCTCTTCA	0.495													37	194	---	---	---	---					
ZNF518A	9849	broad.mit.edu	37	10	97918855	97918856	+	RNA	INS	-	-	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:97918855_97918856insA	ENST00000534948.1	+	0	3633_3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATTCAGAACAAAAAAAAACT	0.347													7	222	---	---	---	---					
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)ccc>cc	p.PP171del	DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)					9	343	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													9	670	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													7	764	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													11	631	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19955389	19955389	+	Frame_Shift_Del	DEL	A	A	-	rs141566825	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:19955389delA	ENST00000396085.1	+	7	1960	c.1599delA	c.(1597-1599)ccfs	p.P533fs	NAV2_ENST00000349880.4_Frame_Shift_Del_p.P533fs|NAV2_ENST00000396087.3_Frame_Shift_Del_p.P556fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.P485fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.P469fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.P487fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	556						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCGAGATGCCAAAAAAGTCCT	0.557													9	471	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													17	586	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303													8	123	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													13	831	---	---	---	---					
DIP2B	57609	broad.mit.edu	37	12	51121500	51121500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:51121500delA	ENST00000301180.5	+	29	3449	c.3415delA	c.(3415-3417)aafs	p.K1139fs		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1139						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTACCCAGGAAAAGGTTACC	0.428													7	1335	---	---	---	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)del	p.E55del	HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													7	267	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:23912864delT	ENST00000382298.3	-	10	5739	c.5151delA	c.(5149-5151)aafs	p.K1717fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1717					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358													7	262	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262564	25262564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:25262564delG	ENST00000218548.6	+	4	669	c.336delG	c.(334-336)gtfs	p.V112fs	ATP12A_ENST00000381946.3_Frame_Shift_Del_p.V112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGCAGATGGTGGGGGGGTTCT	0.587													7	1612	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)del	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													7	285	---	---	---	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:31715381_31715382insT	ENST00000320027.5	-	13	2075_2076	c.1731_1732insA	c.(1729-1734)aattgafs	p.N*577fs	HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													9	543	---	---	---	---					
TRAV9-2	0	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													12	29	---	---	---	---					
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)tafs	p.L376fs	HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488													7	300	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr14:36194270delT	ENST00000258840.6	-	14	2216	c.1826delA	c.(1825-1827)atfs	p.N609fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378													14	630	---	---	---	---					
Z97634.5	0	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													8	113	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													9	251	---	---	---	---					
AP1G1	164	broad.mit.edu	37	16	71803440	71803440	+	Splice_Site	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:71803440delA	ENST00000423132.2	-	7	921		c.e7-1		AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000299980.4_Intron			O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTGCTTTCAAAAAAAAATA	0.378													7	162	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:77356311delA	ENST00000282849.5	-	14	2503	c.2085delT	c.(2083-2085)ttfs	p.F695fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403													11	455	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					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						TTTGGTTTCTTTCTTCTTCTTCT	0.350													8	408	---	---	---	---					
RP11-156P1.3	0	broad.mit.edu	37	17	45128638	45128638	+	RNA	DEL	G	G	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:45128638delG	ENST00000575173.1	-	0	418																											Gtttttttttgttttgttttt	0.323													7	343	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)ggfs	p.R549fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323													8	186	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													7	321	---	---	---	---					
C18orf8	29919	broad.mit.edu	37	18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000269221.3	+	8	795_797	c.685_687delCAT	c.(685-687)del	p.H230del	C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	230										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTCTTGAGGCATCATTCTCGGA	0.424													89	226	---	---	---	---					
SERPINB10	5273	broad.mit.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gafs	p.E73fs		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284													9	134	---	---	---	---					
ZNF426	79088	broad.mit.edu	37	19	9639888	9639888	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9639888delT	ENST00000593003.1	-	6	1196	c.719delA	c.(718-720)agfs	p.K240fs	ZNF426_ENST00000535489.1_Frame_Shift_Del_p.K278fs|ZNF426_ENST00000253115.2_Frame_Shift_Del_p.K278fs			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGTAGGGCTTTTTTGCATT	0.418													7	614	---	---	---	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	218	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)del	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													14	700	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													7	38	---	---	---	---					
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aafs	p.K691fs	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488													8	445	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													8	1610	---	---	---	---					
KRTAP10-2	386679	broad.mit.edu	37	21	45970839	45970839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr21:45970839delC	ENST00000391621.1	-	1	549	c.503delG	c.(502-504)tcfs	p.C168fs	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	168	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGCCGGCTGGCAGCTAGACTG	0.607													62	397	---	---	---	---					
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)ttfs	p.F162fs	NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000347330.5_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				7	677	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	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													9	516	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	331	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.650													7	695	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggc>g	p.GS68del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	68	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													16	455	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													15	180	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	880	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs144357389	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agc>ag	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							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)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			7	919	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)aca>ac	p.TT52del	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	753	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040	by1000genomes	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418													9	71	---	---	---	---