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
IL3RA	3563	broad.mit.edu	37	X	1471384	1471384	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	201						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAAGTTTGTCGTCTTTTCACA	0.582000													22	279					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	264	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAATATCAGCAGAAGCCAG	0.408000													10	354					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000602198.1	+	8	1029	c.587C>A	c.(586-588)tCg>tAg	p.S196*	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Nonsense_Mutation_p.S178*|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	178						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCATTGAGTCGTCTGTGGAG	0.522000													22	508					1.55469e-16	1.64368e-16	1	1	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													11	576					0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000228843.9	+	9	950	c.900G>C	c.(898-900)aaG>aaC	p.K300N	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000544927.1_Intron	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	300					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CTGAAAGCAAGAAACCTAAAT	0.393000													131	1413					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000316878.6	-	11	2379	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	793	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGAGCTTGTCCATCTCCTCC	0.642000													41	39					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	190					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622000													8	1134					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75523278	75523278	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:75523278C>T	ENST00000339365.2	+	8	1180	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	340					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAACAACCGGGGTACAGA	0.493000													4	299					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1199	Beta/gamma crystallin 'Greek key' 4.						sugar binding	p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443000													173	321					0	0	1	0	0
TAS1R1	0	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532000													5	486					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507000													6	728					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1068622	1068622	+	Silent	SNP	G	G	A	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000313093.2	+	2	531	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000586866.1_Silent_p.P104P|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000536472.1_Intron	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	100					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCAGCCCGGGCGAGCTGC	0.721000													7	170					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000269095.4	-	13	1892	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C|MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGAGCTCGCGGAAGGTCCTC	0.607000													189	257					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96635385	96635385	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:96635385G>A	ENST00000007660.5	+	1	95		c.e1+1		DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000518156.2_Silent_p.Q32Q|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA	NM_005222.3	NP_005213.3	P56179	DLX6_HUMAN	distal-less homeobox 6						nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					agcagcagcagcaacagcagc	0.657000													5	55					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023635	32023635	+	Silent	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:32023635A>G	ENST00000375244.3	-	24	8661	c.8460T>C	c.(8458-8460)ggT>ggC	p.G2820G	TNXB_ENST00000375247.2_Silent_p.G2820G			P22105	TENX_HUMAN	tenascin XB	2878	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2820G(1)|p.G2907G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACACCCACGGTGG	0.582000													10	396					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	170					0	0	1	0	0
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294000													8	696					0	0	1	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62788497	62788497	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:62788497C>T	ENST00000582986.1	-	0	2112					NR_024386.1																						GGCGCCACTCCGGCACAGGCC	0.577000													22	329					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													6	223					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	446					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTAGGCTTCTCTACAGTTT	0.318000													18	441					2.37509e-13	2.49424e-13	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000447098.2	-	3	315	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000372192.3_Missense_Mutation_p.E102K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	102					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGCTTCTCCTTGGTGTAA	0.602000									Basal Cell Nevus syndrome				10	1317					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88375514	88375514	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:88375514A>G	ENST00000392844.3	+	19	2041	c.1993A>G	c.(1993-1995)Aat>Gat	p.N665D	ORC3_ENST00000546266.1_Missense_Mutation_p.N522D|ORC3_ENST00000257789.4_Missense_Mutation_p.N666D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	665					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGGATGCAAATTCTGCAAC	0.308000													28	98					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	rs138678209	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000271153.4	+	12	1453	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	473					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTGCTTGCTCCGCTTTGAGTT	0.557000													377	325					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	63					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTGCTTCCTTCTGCGAAA	0.532000													18	391					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	IMP3_ENST00000403490.1_Missense_Mutation_p.P90A			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	90					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CCGCGCGTGGGCACCAAGCCG	0.711000													11	119					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													26	271					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52667657	52667657	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2420_splice	c.e20-1	p.C807_splice	MYO5A_ENST00000358212.6_Splice_Site_p.C807_splice|MYO5A_ENST00000553916.1_Splice_Site_p.C807_splice|MYO5A_ENST00000356338.6_Splice_Site_p.C807_splice|MYO5A_ENST00000399233.2_Splice_Site_p.C807_splice	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	807	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTAGCATAGCTGGCCAAAG	0.398000													5	245					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													15	1224					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338057	39338057	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:39338057C>T	ENST00000221419.5	-	2	651	c.285G>A	c.(283-285)ccG>ccA	p.P95P	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	95					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P95P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGTTTTGTGCGGGTCATCGT	0.522000													5	447					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													10	214					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19715919	19715919	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:19715919G>C	ENST00000284885.3	-	12	1365	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	444	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCATATTTTGGTCATTGCTGA	0.308000													6	435					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000400427.1	+	10	1744	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	UMODL1_ENST00000400424.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A522T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	522	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCTCACCGGCTGCCTGGTG	0.627000													6	637					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418000													82	463					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000383440.2	+	11	6165	c.5908G>A	c.(5908-5910)Gtg>Atg	p.V1970M	ANKRD12_ENST00000262126.3_Missense_Mutation_p.V1993M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1993						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTACAAGATGTGGATGATAA	0.313000													14	595					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	55					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACATGAACACGATCCGCACG	0.572000													12	157					0	0	1	0	0
PCDHB13	0	broad.mit.edu	37	5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCGCTGGTGCGCGTGGT	0.711000													100	430					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016461	25016461	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Silent_p.T183T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677000													5	404					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145843226	145843226	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:145843226G>A	ENST00000296702.5	+	5	1043	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	TCERG1_ENST00000394421.2_Silent_p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	335	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCAGCCGCACCCTCAGA	0.517000													6	871					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	586					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCTCAGTGCCGACTGCCGGG	0.706000													35	83					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879250	39879250	+	Missense_Mutation	SNP	A	A	G	rs783822	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:39879250A>G	ENST00000530275.1	+	1	3100	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	969	Ala-rich.		T -> A (in dbSNP:rs783822).							central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCACCTCCCCAGC	0.726000													6	174					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6264820	6264820	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Silent_p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	362	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTGCTCAGTCCTACCAGGACC	0.667000													67	77					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000355481.4	+	29	4371	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1414M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1414	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCACGACGTGGTGCCTGC	0.612000													35	148					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1																						ATCTGCGCACCCGGAGGTGGG	0.607000													3	45					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													6	412					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	163					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CACTCTTTGCTTGGCTTTGCT	0.358000													203	180					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	289						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCCCTGTTTGAGAAAGTGAG	0.408000													24	173					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													8	228					0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351								p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562000													9	726					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													8	555					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432083	45432083	+	Silent	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:45432083G>T	ENST00000361462.2	+	1	642	c.459G>T	c.(457-459)cgG>cgT	p.R153R	FAM179B_ENST00000361577.3_Silent_p.R153R|FAM179B_ENST00000382233.2_Silent_p.R153R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	153							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGAGAAGCGGCTCTGCTTGC	0.597000													6	804					1	1	1	1	0
C6	729	broad.mit.edu	37	5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V416M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	416	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTATGTTCCACTTTTGTTTTC	0.433000													151	208					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	191	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAATTGGTAAGCAAAGAACA	0.443000													73	168					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93672863	93672863	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:93672863G>A	ENST00000343253.7	+	9	1619	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	373										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGTGTTGCAGCACAGAATGA	0.343000													5	410					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTCCATGGCCGGAAGAATTTC	0.597000													10	749					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10673457	10673457	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:10673457G>A	ENST00000312962.6	-	4	368	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.R113W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	117	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TACATGGGCCGCACTTTCTTC	0.557000													8	855					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							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						GTTCATGAAACTGTGAGGAGC	0.433000													5	312					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522000													7	780					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773787	100773787	+	Silent	SNP	G	G	A	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000223095.4	+	3	514	c.357G>A	c.(355-357)gcG>gcA	p.A119A	SERPINE1_ENST00000445463.2_Silent_p.A104A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597000													207	1192					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													4	337					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99687011	99687011	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99687011C>T	ENST00000303904.3	+	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	59	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATCCGCATGCGCTCCCAGGA	0.597000													7	931					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000403131.2_Missense_Mutation_p.R412C|PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCAGCCGCCCCTACCT	0.687000													23	102					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	290	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GATGTAAGCACTGCTGTCCAG	0.438000													150	121					2.73285e-76	3.01092e-76	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443000													143	633					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.A192T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTTCCCTTCGCGCGACTCCGC	0.657000													83	126					0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	434					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTAAACTGCTCAGCTTAGA	0.413000													106	340					2.48367e-54	2.71732e-54	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACTGCGAGGTGGTGC	0.488000													16	310					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939637	72939637	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000553530.1	+	9	801	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000553525.1_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	198					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAACGAGCCTTTTGGGATG	0.368000													43	887					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000007969.8	+	5	834	c.614T>A	c.(613-615)cTc>cAc	p.L205H	LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	205										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGAAGAACCTCTACCTGGTA	0.562000													28	1500					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373000													10	1111					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	534					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10094325	10094325	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	695	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGTGACTCCGCAGCTGCAGG	0.537000													42	331					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	390					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572000													37	189					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96049770	96049770	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:96049770C>T	ENST00000295225.5	+	9	879	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KCNIP3_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	248	Interaction with KCND2 (By similarity).				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCATGAGCTCCATGCAGCTGT	0.582000													87	452					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000263765.4	+	8	1670	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L|PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	474										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGAGCCCCCCGTATTGCCA	0.522000													19	1041					0	0	1	0	0
IGLC3	0	broad.mit.edu	37	22	23248723	23248723	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:23248723C>T	ENST00000390325.2	+	0	212																											CCAGCAGCTACCTGAGCCTGA	0.592000													4	170					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000300283.6	+	7	1257	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000441322.1_Missense_Mutation_p.G289R	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	289	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443000													205	45					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000265148.3	-	10	840	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000380026.3_Missense_Mutation_p.R251W	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	251	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTTGAGCCGCACACCTGAA	0.333000													5	255					0	0	1	0	0
MIR525	0	broad.mit.edu	37	19	54200806	54200806	+	RNA	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:54200806G>C	ENST00000384978.1	+	0	20					NR_030192.1																						TGACTCTCCAGAGGGATGCAC	0.423000													20	246					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944258	41944258	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:41944258G>A	ENST00000221943.9	-	2	85	c.80C>T	c.(79-81)gCg>gTg	p.A27V	ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	27										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCCACTGCCGCACCCAGGCG	0.587000													6	348					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952216	952216	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K|TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	483						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCGGCCCGAACACCCCCC	0.741000													43	65					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635334	32635334	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:32635334C>T	ENST00000242310.4	-	1	333	c.244G>A	c.(244-246)Gca>Aca	p.A82T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	82					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATTTGCCGTGAGTTCA	0.517000													6	778					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000218548.6	+	7	1111	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000381946.3_Missense_Mutation_p.Y260N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	260					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			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)	CATCTGCTTCTATTCCACAAC	0.547000													55	1095					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3207651	3207651	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:3207651G>A	ENST00000246117.4	+	15	2088	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	NCLN_ENST00000591062.1_3'UTR|NCLN_ENST00000590671.1_Missense_Mutation_p.V479I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	553					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAAGACCGTCCAGAGGCT	0.657000													4	220					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1																						CCCTATCTGCGCACCCGGAGG	0.612000													10	41					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	577					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCCTGGCGCGACTTCGTGC	0.642000													67	377					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	236					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52676446	52676446	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52676446C>T	ENST00000399231.3	-	15	2069	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	609	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R609H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGGGTGTGCGCCCTGAGGA	0.483000													6	541					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	146						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACCTTCATCACCTCATTATTC	0.542000													49	1201					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000368909.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2341	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCATTGCCCGCTTCCGGTTC	0.582000													96	285					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121867911	121867911	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121867911G>A	ENST00000392464.2	+	7	1207	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	0					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCAAAGGAAAGTGTCGGCTCA	0.493000													18	446					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136680484	136680484	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	227					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328000													24	210					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000413728.2	-	3	929	c.386G>A	c.(385-387)cGt>cAt	p.R129H	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	123	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACCTCCTGACGTTTGATTTC	0.537000													31	489					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667000													4	161					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGGCCCGTCCGAGATGA	0.418000													5	407					0	0	1	0	0
SNX29P2	0	broad.mit.edu	37	16	29370570	29370570	+	RNA	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:29370570C>A	ENST00000398878.3	+	0	1115				SNX29P2_ENST00000507381.1_RNA																							ATTTCCTTTTCTCTTTCAATC	0.483000													7	139					0.000157383	0.000157886	1	1	0
TSR3	115939	broad.mit.edu	37	16	1399510	1399510	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1399510C>T	ENST00000007390.2	-	6	973	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CCCGTCCCTGCGTCTGCTCCT	0.622000													48	1150					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55223794	55223794	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542000													347	313					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	958					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTGGGAAGCAATGGGTAGG	0.403000													27	431					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606564	174606564	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:174606564G>A	ENST00000251507.4	+	14	1936	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	588	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.A588T(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACATTTCCCGCACATGATTA	0.358000													5	473					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013926	149013926	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000535454.1	+	4	1429	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000542674.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	294	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCATGTGGTCAGGGTCAA	0.572000													82	415					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000403390.1	+	6	691	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	PFKL_ENST00000349048.4_Missense_Mutation_p.R184C|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	184					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCCCTCCACCGCATCATGGA	0.672000													29	535					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	850					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTCAGGATGAATTTGGTCA	0.358000													126	2259					0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	219						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AAGGCGTTGAAATATACGTTG	0.483000													116	131					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	rs139403054	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGCACGCCGCATCTCCGCA	0.522000													9	1294					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000392299.2	+	3	1384	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					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)	GCCATGCGGCGCCTTGGCGTC	0.557000													17	255					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15534959	15534959	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:15534959G>T	ENST00000455584.2	-	5	1128	c.1085C>A	c.(1084-1086)cCc>cAc	p.P362H	TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H|TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H|TRIM16_ENST00000578237.1_Missense_Mutation_p.P362H																							CCTGGTGCTGGGCTCAGGTTT	0.478000													81	275					3.77759e-48	4.09022e-48	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													6	275					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58562472	58562472	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2120					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTGGGATCACATCACAGA	0.403000													65	319					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	591	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCAAGATTGGCAATGAC	0.602000													104	418					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45487057	45487057	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45487057G>A	ENST00000331493.2	+	21	2689	c.2278_splice	c.e21+1	p.E760_splice	CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site_p.E664_splice	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AAAGGTAAACGGTGAGTAAGA	0.323000													44	708					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507000													7	549					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458872	26458872	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:26458872C>T	ENST00000429381.1	+	2	220	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	3					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622000													7	617					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:130025029G>A	ENST00000011292.3	+	8	980	c.830G>A	c.(829-831)gGc>gAc	p.G277D	CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	277					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTACCACGGCAAGTTTGCC	0.562000													5	431					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					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			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						TTTAGCTTTTATCTCTTCTTT	0.269000													15	91					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27868361	27868361	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000409980.1_Silent_p.S785S|TAX1BP1_ENST00000543117.1_Silent_p.S719S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	761					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.S761S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CGATGTGCAGCGAGCAGTTCC	0.418000													12	629					0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	257					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCGGCAGTCACAAAGCCCTTG	0.572000													42	262					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208113	100208113	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	51					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TAACCACGTGGTCATCTGTGC	0.478000													42	746					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1094	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATATGCCCGGTCCAGGTTT	0.498000			T	?	ALCL								3	53					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368148.3	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1224Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1224					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCTCATGCCGTCGCTGAAG	0.502000													218	245					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169444	113169444	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000401783.2	-	38	8772	c.8436G>A	c.(8434-8436)agG>agA	p.R2812R	SVEP1_ENST00000374469.1_Silent_p.R2789R|SVEP1_ENST00000297826.5_Silent_p.R738R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2812	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCATGTTCTCCTCTCAGTGC	0.502000													9	717					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000278616.4	+	27	4425	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000452508.2_Nonsense_Mutation_p.L1347*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1347					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGTGGAGTTATTGATGACG	0.348000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			182	29					0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	121011434	121011434	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:121011434G>A	ENST00000359943.3	-	5	405	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	64					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCTTCTCAGGGCAAGCTTTTG	0.413000													6	710					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													5	452					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000407242.2	-	3	1407	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	389						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCGTCCGCAGAGACCCC	0.652000													20	79					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603714	28603714	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:28603714C>T	ENST00000533150.1	-	3	1662	c.546G>A	c.(544-546)ctG>ctA	p.L182L	SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000395630.1_Silent_p.L215L			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	215					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTCTGGCAGGGAGCGCC	0.547000													7	584					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTGTAGAGAATGTCATTT	0.512000													62	539					7.41606e-26	7.92055e-26	1	1	0
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692000													82	431					1.07134e-49	1.16401e-49	1	1	0
TOMM20	9804	broad.mit.edu	37	1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	rs1130507		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597000													8	909					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000355774.2	-	2	3241	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1009					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGCATCTTCTACCGGATTCAT	0.398000								Mismatch excision repair (MMR)					117	557					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213529	122213529	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000540377.1	+	6	427	c.31G>A	c.(31-33)Gtt>Att	p.V11I	TMEM120B_ENST00000449592.2_Silent_p.A307A			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGTACTGGCGTTCACCTTCC	0.607000													116	154					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L			P49789	FHIT_HUMAN	fragile histidine triad	69	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TGTTTTTCCACCACTGTCCCG	0.512000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				56	279					1.54043e-34	1.66219e-34	1	1	0
PDGFC	56034	broad.mit.edu	37	4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	276					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGTTTAACCAGGAGACAACCT	0.448000													41	677					4.14481e-20	4.41176e-20	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	221						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACAAGGCCGGAGAGCCCCC	0.701000													5	352					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106002866	106002866	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:106002866G>A	ENST00000409177.1	-	2	577	c.456C>T	c.(454-456)ttC>ttT	p.F152F	FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000409807.1_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	36	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGTGTTGGCGAACAGGGTCT	0.612000													4	311					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													7	435					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	204					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCATGTGCGTTCACAGCAT	0.552000													4	204					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547881	100547881	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	51					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCCTTCGTCGCCAGCAATGT	0.562000													189	426					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557000													10	325					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													4	135					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:16285497A>G	ENST00000302182.3	+	2	668	c.276A>G	c.(274-276)gaA>gaG	p.E92E	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000													6	535					0	0	1	0	0
C11orf52	91894	broad.mit.edu	37	11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	104										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGTATGCGACCCTTCGC	0.547000													4	220					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000301365.4	-	10	1402	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000576742.1_Missense_Mutation_p.P424L|TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTGTGCAGCGGCTCCAGGGT	0.522000													315	384					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103907024	103907024	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCGAGGCCGCAACAGCCGTT	0.622000													35	389					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90718567	90718567	+	Translation_Start_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:90718567G>A	ENST00000257749.4	-	0	704				BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame|BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2							nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGACATGCCGTTCACACCCT	0.478000													5	266					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373103.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000373106.1_Missense_Mutation_p.A593T|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	593	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGACTGGCGGGCTCCAGG	0.617000													5	434					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000379551.2	+	3	993	c.636T>A	c.(634-636)agT>agA	p.S212R	PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	235	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACTTACACAGTGAACCTGTCC	0.498000													18	256					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													9	278					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								12	369					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	362						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTCCCCAATCTGCGTGAGA	0.493000													10	362					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													7	327					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21332002	21332002	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000405089.1_Silent_p.A438A	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTGCCCGCCACAGGCTTCC	0.622000													7	457					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507526	155507526	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:155507526G>T	ENST00000302053.3	-	5	1133	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	FGA_ENST00000403106.3_Missense_Mutation_p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	352					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGGTCTAGGGCTCCCAGG	0.557000													7	961					3.59834e-05	3.6214e-05	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	545					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5372038	5372038	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:5372038C>A	ENST00000225296.3	-	1	342	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	DHX33_ENST00000433302.3_Missense_Mutation_p.G48C	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	48						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCCTCCGGCCTCCTCCTCCT	0.721000													14	180					3.52763e-06	3.58471e-06	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617000													6	482					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127673720	127673720	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000262464.4_Silent_p.H1189H			P35556	FBN2_HUMAN	fibrillin 2	1189	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGACAGCTCGTGTCCCAGTG	0.522000													7	211					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	170					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCAGCAGCTGCGGCAACAGCA	0.637000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	54					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	403					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGTGCTCTGGTTAGTCACTAG	0.398000													44	385					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCATGTCGGCCTCAGCGGC	0.662000													4	159					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1																						TGCTCCCTATCTGCGCACCCG	0.607000													5	48					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000540372.1	+	6	916	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	PLD4_ENST00000392593.4_Missense_Mutation_p.R235W			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CATGGACTGGCGGTCTCTGAC	0.607000													16	272					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	221					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	449						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGCCCAAATTCTACCCACCC	0.557000													124	570					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846113	18846113	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612000													9	122					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000													13	315					2.37509e-13	2.49424e-13	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCACTGAAGCGTGGGCTGTGA	0.607000													19	465					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000218548.6	+	12	1934	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	ATP12A_ENST00000381946.3_Missense_Mutation_p.R528H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R528H(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)	GCCCCTGAGCGCATCCTAGAG	0.572000													288	262					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195706732	195706732	+	RNA	SNP	A	A	C	rs143142420	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:195706732A>C	ENST00000427841.1	-	0	904					NR_003264.2																						TAGTTGCGCCAGTAGCCTATG	0.607000													8	208					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	359					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													8	789					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662000													4	158					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905894	5905894	+	Silent	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTATGACCGCTTTGTTGCCA	0.443000													27	658					6.32553e-13	6.62072e-13	1	1	0
C5orf54	63920	broad.mit.edu	37	5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gtagcgaacatagtcatcatc	0.423000													264	315					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.5	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	763					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTATAGTAGTTGGCATATTC	0.323000			Mis		myelodysplastic syndrome								139	270					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000274576.4	-	8	1337	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000455880.2_Missense_Mutation_p.R349W	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	349					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463000													27	941					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													5	110					0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30124708	30124708	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:30124708G>A	ENST00000406256.3	-	1	469	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	31					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGCCCTGGGCGTGTGCAGCAG	0.632000													7	1180					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	283					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCAGGAATTCGTAGCCATCT	0.502000													39	200					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607000													46	995					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218609475	218609475	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366929.4	+	6	1469	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.A306A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTTGGATGCGGCCTATTGCT	0.438000													17	398					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			203	143					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	328	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGCTCAGATCAAAATCGCCAA	0.522000													53	388					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51767330	51767330	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51767330C>A	ENST00000316401.7	+	2	385	c.4C>A	c.(4-6)Ctt>Att	p.L2I	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I	NM_173635.1	NP_775906.1			SIGLEC family like 1																		GGAAGTGATGCTTCCACTGCT	0.527000													31	476					2.42023e-17	2.56741e-17	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R	OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393000													15	556					2.32078e-09	2.38927e-09	1	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859904	67859904	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67859904C>T	ENST00000388833.3	+	9	1284	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	303					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCTGAAGGAACGGGACCAATT	0.612000													90	144					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													5	528					0	0	1	0	0
PGGT1B	5229	broad.mit.edu	37	5	114598513	114598513	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	PGGT1B_ENST00000379615.3_Silent_p.S12S|CTC-428G20.6_ENST00000606615.1_RNA	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	12					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTCCCTCACCGCTCCCTGCTA	0.617000													4	210					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							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)					AACAGGCACAGTTTCTCTCTC	0.463000													8	964					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	382					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTTGCGCAGCGCGTCC	0.692000													55	91					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597000													9	1157					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34241398	34241398	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000536252.1	+	5	773	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000297661.4_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	125						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCAGCTTGCAGCACAACAGCA	0.517000													6	382					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59365	59365	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATTCTCCCCTGAAGAGTGGAA	0.423000													23	1558					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000244625.2	-	2	1201	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000372876.1_Missense_Mutation_p.N213S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	213	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GACCGTGCAGTTGCTCAGTTC	0.577000													5	206					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGAAGCCGGTGGTAAGC	0.542000													8	586					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393000													5	336					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													6	307					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000395474.3	+	2	756	c.476T>C	c.(475-477)aTa>aCa	p.I159T	WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	129					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGGAAATATAGCCTTGGCC	0.557000													8	379					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398000								Direct reversal of damage;Homologous recombination					9	1199					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													12	381					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31673895	31673895	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:31673895G>A	ENST00000375483.3	+	5	851	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	284						cytoplasm|extracellular region	lipid binding										ACCATGGACCGCACGGGTTAT	0.592000													9	1413					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000446148.2	-	7	1698	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCATACGGCTTCTCTCC	0.448000													8	397					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336205	101336205	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392979.3	+	4	604	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ANO4_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.K116K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	116						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGGAAAGTGTCGAATTG	0.388000										HNSCC(74;0.22)			283	329					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32229984	32229984	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:32229984A>G	ENST00000536766.1	+	22	2041	c.1870A>G	c.(1870-1872)Act>Gct	p.T624A	DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.1_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGGCAGCTGACTGGGGAAAG	0.502000													6	871					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575548	12575548	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:12575548C>T	ENST00000397732.3	-	4	1359	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q396Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403000													6	512					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1221474	1221474	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:1221474G>A	ENST00000536573.2	+	4	332		c.e4+1		ERC1_ENST00000355446.5_Intron|ERC1_ENST00000360905.4_Intron|ERC1_ENST00000397203.2_Intron|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000546231.2_Intron			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGTCTTTGCCGTAAGATTTAC	0.502000													10	1473					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552000													4	294					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1229	Ser-rich.						calcium ion binding|structural molecule activity			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)			AACTGTGGATCCTGACTCTAC	0.483000													21	805					7.45023e-12	7.772e-12	1	1	0
ZAN	7455	broad.mit.edu	37	7	100361458	100361458	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000542585.1	+	0	4164				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAATTCCCCGTCTTGTGAT	0.562000													55	778					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135878	51135878	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	113						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGTGGTGCCCGCCTCCGCCTA	0.726000													12	204					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													12	422					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	511					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCGAGCATGCGCTGCTTGAG	0.637000													139	201					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													5	388					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACCTTCCCCTTCCGTGGA	0.498000													8	995					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGCGCCGCCTGGATGTGC	0.692000													5	86					5.9392e-07	6.0549e-07	1	1	0
SALL2	6297	broad.mit.edu	37	14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	33							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACAGACTTGGGGGTGATCCTC	0.532000													4	263					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021944	51021944	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	342	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGGCGGGCGCATGACAGC	0.652000													56	307					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	1224					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCATGTCCAAGTAGGAGGGC	0.657000													74	201					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3214843G>A	ENST00000380059.3	-	5	639	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLC4A11_ENST00000539553.1_Missense_Mutation_p.R137W|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153W	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	153					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCATGGTCCGCAGCACGTTA	0.627000													6	692					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205274	81205274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:81205274C>T	ENST00000552864.1	-	5	874	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	224	Poly-Gln.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGTTtgttgctgctgctgct	0.408000													6	58					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433000													28	656					7.01153e-11	7.26608e-11	1	1	0
CHN2	1124	broad.mit.edu	37	7	29552295	29552295	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:29552295C>T	ENST00000222792.6	+	13	1881	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000410098.1_3'UTR	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	451	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCATGATATGCGGTACCAAAA	0.463000													4	322					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182597407	182597407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:182597407C>A	ENST00000323116.5	+	20	2636	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	792					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTGTATTATGCTGTCGTATGG	0.363000													6	345					5.18039e-06	5.23036e-06	1	1	0
ANO5	203859	broad.mit.edu	37	11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	832						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGCTGCCAAGATGACCTTC	0.363000													26	319					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	128						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATGGCGCCGGCCATGGCCAG	0.642000													5	444					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9599742	9599742	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:9599742G>A	ENST00000460593.1	+	15	2808	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Missense_Mutation_p.R594K			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	594					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCCAAAATAAGAAAAGGTAAG	0.373000													8	123					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57333282	57333282	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.77_splice	c.e2-1	p.Q26_splice		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	26					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTCTTTAGGAGAGTAAGAC	0.458000													53	299					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675080	21675080	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	276										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTGGGGGCTCCGGATGCTGGT	0.706000													13	115					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838674	145838674	+	Silent	SNP	A	A	G	rs111879925		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:145838674A>G	ENST00000296702.5	+	4	704	c.666A>G	c.(664-666)caA>caG	p.Q222Q	TCERG1_ENST00000394421.2_Silent_p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	222	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaagcccaagccc	0.716000													27	162					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000332972.5	+	7	928	c.769A>G	c.(769-771)Att>Gtt	p.I257V	ADSSL1_ENST00000330877.2_Missense_Mutation_p.I214V	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	214					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGAAATAGACATTGAAGGCCA	0.582000													45	1070					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567000													11	1172					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATATCCAGCGCCTGATAGC	0.463000													16	478					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	114					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTCAGTCTTCGGCTGAGGTT	0.607000													30	278					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78280984	78280984	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.751000													3	38					0	0	1	0	0
TMEM9B	56674	broad.mit.edu	37	11	8969885	8969885	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:8969885C>T	ENST00000534025.1	-	5	1038	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_ENST00000309134.5_Silent_p.R119R|TMEM9B_ENST00000525069.1_Silent_p.R119R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	p.R193R(1)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488000													6	895					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	826						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCGCTGCCCCGGTTGCCA	0.567000													12	280					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169197237	169197237	+	Missense_Mutation	SNP	G	G	A	rs140580597		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:169197237G>A	ENST00000393743.3	-	15	2365	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	692							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGAGTTGCCGATCATCTTCT	0.368000													6	371					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000541757.1	+	13	1185	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	MARCO_ENST00000327097.4_Missense_Mutation_p.L347M			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGCCACAGGCCTGAAAGGAAG	0.562000													132	660					4.83839e-50	5.27519e-50	1	1	0
CYTH2	9266	broad.mit.edu	37	19	48981402	48981402	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000427476.1	+	9	1188	c.888_splice	c.e9+1	p.T296_splice	CYTH2_ENST00000452733.2_Splice_Site_p.T295_splice	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	296	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGTACACCACGGTGAGCGTGA	0.652000													22	316					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119509336	119509336	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000539306.1_Silent_p.R181R|ATP1B4_ENST00000361319.3_Silent_p.R220R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AATTTAAGCGCTCCTTCCTAA	0.478000													150	260					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567000													6	720					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240056274	240056274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:240056274C>T	ENST00000345617.3	-	10	1835	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S317S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCAAGGATGGCGATGTGTAGA	0.632000													4	189					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887527	12887527	+	Silent	SNP	A	A	G	rs2486716		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:12887527A>G	ENST00000535591.1	-	3	525	c.330T>C	c.(328-330)ttT>ttC	p.F110F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	110								p.F110F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAAGTTCTACAAACACAGTCA	0.498000													8	1321					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377069.4	-	20	3771	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.M1191T|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1191					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGATCCCGCATCTGGGCATC	0.632000													61	256					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	931					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCTCCCTCTCTGCTCCCG	0.572000													22	463					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													9	129					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16953827	16953828	+	RNA	INS	-	-	C	rs57007114		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477																											TCACTTTCCTGCCCGAACCTCC	0.609													7	184	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													16	1223	---	---	---	---					
ADC	113451	broad.mit.edu	37	1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)ccafs	p.P401fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	401					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CTTTTGGGGGACCCAGGCCTGC	0.624													7	666	---	---	---	---					
ZMYM6	9204	broad.mit.edu	37	1	35484912	35484912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:35484912delA	ENST00000317538.5	-	4	634	c.470delT	c.(469-471)tafs	p.L157fs	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Del_p.L157fs			O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TATACACACTAAAAAAAAGGT	0.343													7	455	---	---	---	---					
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1279-1284)ctaaaafs	p.LK427fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	427					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342													9	538	---	---	---	---					
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)del	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384													9	635	---	---	---	---					
IPO13	9670	broad.mit.edu	37	1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_splice	c.e12-1	p.P676_splice		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	676					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562													8	1744	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													18	446	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													9	349	---	---	---	---					
RPE65	6121	broad.mit.edu	37	1	68903931	68903931	+	Frame_Shift_Del	DEL	T	T	-	rs62642586		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:68903931delT	ENST00000262340.5	-	10	1120	c.1067delA	c.(1066-1068)atfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTTTCTGGCATTTTTTTTCAC	0.348													7	357	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													12	1246	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													10	580	---	---	---	---					
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:112524444_112524445insG	ENST00000369697.1	-	1	973_974	c.904_905insC	c.(904-906)ccafs	p.P302fs	KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGAGTGGCGGGAAAACTTG	0.579													7	493	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:144863324delG	ENST00000369359.4	-	40	6525	c.6487delC	c.(6487-6489)tgfs	p.L2163fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2027					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD								12	1279	---	---	---	---					
RP11-458D21.1	0	broad.mit.edu	37	1	145378949	145378950	+	RNA	INS	-	-	G	rs138005187	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:145378949_145378950insG	ENST00000419817.1	-	0	307																											ATGAAACGCGCCATTAGTACTG	0.460													2	4	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(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)			CTGGCTTGGCTGTGTGTGTGTC	0.515													11	1368	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413													7	1818	---	---	---	---					
PAQR6	79957	broad.mit.edu	37	1	156215327	156215327	+	Splice_Site	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156215327delG	ENST00000335852.1	-	4	808	c.194_splice	c.e4+1	p.R65_splice	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Splice_Site_p.R65_splice|PAQR6_ENST00000368270.1_Splice_Site_p.R147_splice|PAQR6_ENST00000292291.5_Splice_Site_p.R171_splice|PAQR6_ENST00000360733.2_Splice_Site_p.R65_splice|PAQR6_ENST00000540423.1_Splice_Site_p.R168_splice	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	171						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGAACCCACCGGGAGTAGCAG	0.662													138	242	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													14	683	---	---	---	---					
PEAR1	375033	broad.mit.edu	37	1	156877507	156877507	+	Frame_Shift_Del	DEL	C	C	-	rs77456537		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156877507delC	ENST00000338302.3	+	8	975	c.750delC	c.(748-750)tgfs	p.C250fs	PEAR1_ENST00000292357.7_Frame_Shift_Del_p.C250fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	250	EGF-like 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCAGCTGCCCCCCTGGCT	0.612													7	1204	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													7	365	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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	356	---	---	---	---					
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)del	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					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						TGCCCATGGGGATGATGATGATG	0.424													8	595	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000589042.1	-	360	107315_107323	c.107091_107099delACTCTCAGA	c.(107089-107100)gat>ga	p.ELSD35697del	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.ELSD34056del|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELSD26757del|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELSD26632del|TTN_ENST00000342992.6_In_Frame_Del_p.ELSD33129del|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELSD26824del|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431													26	78	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													7	755	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													10	23	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													10	659	---	---	---	---					
DZIP3	9666	broad.mit.edu	37	3	108363319	108363319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:108363319delA	ENST00000361582.3	+	14	1680	c.1450delA	c.(1450-1452)aafs	p.K485fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	485					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCCTGCACCCAAAAAAGGATG	0.408													7	637	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													9	505	---	---	---	---					
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:195595229delG	ENST00000333602.6	-	12	2512	c.1895delC	c.(1894-1896)cgfs	p.P633fs	TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	633	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATAGGCGGGCGGGGGGGGCAG	0.726													7	524	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													7	70	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													11	612	---	---	---	---					
DRD5	0	broad.mit.edu	37	4	9784726	9784726	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:9784726delT	ENST00000304374.2	+	1	1469	c.1073delT	c.(1072-1074)acfs	p.I358fs		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	358					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACCCCGTCATCTATGCCTTC	0.617													8	600	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													7	289	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													13	451	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													8	306	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													13	440	---	---	---	---					
CLCN3	0	broad.mit.edu	37	4	170618538	170618538	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:170618538delT	ENST00000513761.1	+	9	1775	c.1216delT	c.(1216-1218)ttfs	p.F407fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	407					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438													7	1064	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	276	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													9	269	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			7	1134	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)del	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													10	881	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													18	1223	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2032-2037)aaaaaafs	p.KK678fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	678					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													10	1000	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													12	1017	---	---	---	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)gafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													7	307	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													7	868	---	---	---	---					
PCDHB2	0	broad.mit.edu	37	5	140474589	140474590	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140474589_140474590insA	ENST00000194155.4	+	1	363_364	c.215_216insA	c.(214-216)gaafs	p.E72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATGC	0.525													30	457	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:154173389_154173390insC	ENST00000336314.4	+	6	691_692	c.667_668insC	c.(667-669)cccfs	p.P223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300							protein binding|RNA binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													12	1111	---	---	---	---					
ZNF184	7738	broad.mit.edu	37	6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													7	1440	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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													8	480	---	---	---	---					
GABBR1	0	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													12	503	---	---	---	---					
CDSN	1041	broad.mit.edu	37	6	31084964	31084966	+	In_Frame_Del	DEL	TTT	TTT	-	rs3130984	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:31084964_31084966delTTT	ENST00000376288.2	-	2	452_454	c.426_428delAAA	c.(424-429)ggc>gg	p.GN142del	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	142	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAGCCGCTGTTTCCCGAGTGAG	0.586													7	249	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	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													8	997	---	---	---	---					
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)tcafs	p.S871fs	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	871					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGCTCCTGAGTTTTCTTTGCA	0.584													8	855	---	---	---	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(334-339)ctttttfs	p.LF112fs	ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													14	994	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6771674	6771675	+	RNA	INS	-	-	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:6771674_6771675insT	ENST00000486256.1	+	0	619					NR_002217.1																						ttttttttttctttttttttgg	0.421													7	236	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26225083	26225084	+	Frame_Shift_Ins	INS	-	-	AAGTT			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:26225083_26225084insAAGTT	ENST00000056233.3	+	4	2024_2025	c.1765_1766insAAGTT	c.(1765-1767)agtfs	p.S589fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	589					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGGGAAAAATAAAGTTGCTGCG	0.376													10	313	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													14	2187	---	---	---	---					
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)tcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642													8	1391	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													12	520	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													8	436	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100479332delG	ENST00000388793.4	+	4	524	c.304delG	c.(304-306)ggfs	p.G106fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	106				G -> GG (in Ref. 3; CAB46374).	cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607													7	410	---	---	---	---					
TRBV7-1	0	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													7	96	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:61769038_61769040delGGA	ENST00000423902.2	+	34	7678_7680	c.7199_7201delGGA	c.(7198-7203)cgg>c	p.RR2404del	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2404	Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512													8	198	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992721	68992721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:68992721delT	ENST00000288368.4	+	16	1963	c.1686delT	c.(1684-1686)cgfs	p.R562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACTTTTCCGTTTTTTTTCGG	0.328													9	344	---	---	---	---					
SLC39A4	55630	broad.mit.edu	37	8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:145637952_145637954delCAG	ENST00000276833.5	-	11	2140_2142	c.1837_1839delCTG	c.(1837-1839)del	p.L613del	SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601													8	1007	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	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													12	796	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								8	1153	---	---	---	---					
NR4A3	0	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)del	p.H119del	NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								10	310	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)cag>c	p.PQ2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	329	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													7	204	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			8	382	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	565	---	---	---	---					
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aafs	p.K57fs	AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488													7	942	---	---	---	---					
TSSC2	0	broad.mit.edu	37	11	3424761	3424761	+	RNA	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:3424761delA	ENST00000529482.1	+	0	845																											gtctgtcaggaaaaaaaaaaa	0.413													21	173	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													9	2095	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	1061	---	---	---	---					
TMEM41B	440026	broad.mit.edu	37	11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)ttttggfs	p.W231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACTT	0.361													8	770	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cca>cc	p.PP916del		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	916	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458													7	91	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_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													9	549	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				9	273	---	---	---	---					
RHNO1	83695	broad.mit.edu	37	12	2994544	2994544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:2994544delA	ENST00000489288.2	+	2	164	c.12delA	c.(10-12)agfs	p.R4fs	RHNO1_ENST00000461997.2_Frame_Shift_Del_p.R4fs|RHNO1_ENST00000464682.2_Intron	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		TGCCTCCCAGAAAAAAACGCC	0.542													8	2116	---	---	---	---					
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aafs	p.K354fs	DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	354	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAACAGGGGGAAAAAAAGATA	0.398													9	1821	---	---	---	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)cca>cc	p.PP238del	IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													12	1810	---	---	---	---					
CLSTN3	9746	broad.mit.edu	37	12	7288060	7288060	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7288060delC	ENST00000537408.1	+	3	1095	c.557delC	c.(556-558)tcfs	p.S186fs	CLSTN3_ENST00000266546.6_Frame_Shift_Del_p.S174fs			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	174	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGTGACTGCTCCCCCCAGTAC	0.572													7	2317	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:56559113delG	ENST00000394023.3	-	27	3326	c.3221delC	c.(3220-3222)ctfs	p.P1074fs	SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577													8	612	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													7	1023	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:103695960delG	ENST00000548048.1	-	9	1304	c.808delC	c.(808-810)gcfs	p.R270fs	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													7	692	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													8	717	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													8	353	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													7	457	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-	rs80359307		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:32907421delA	ENST00000544455.1	+	10	2033	c.1806delA	c.(1804-1806)ggfs	p.G602fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			8	326	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)cag>ca	p.QQ508del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	508	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													8	787	---	---	---	---					
TRAV24	0	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs112427980	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55																											TGACTCTTTTTTAAAAAAACAG	0.450													9	108	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													16	769	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)gtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373													23	609	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													9	194	---	---	---	---					
GPR65	0	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(361-366)aattttfs	p.NF121fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	121					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426													7	1006	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													8	187	---	---	---	---					
IGHV3-11	0	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341																											ATATGGTACTACCACTACTACTA	0.522													8	596	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													8	270	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338													13	253	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)del	p.E890del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562													7	194	---	---	---	---					
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)del	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616													8	467	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)del	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													10	28	---	---	---	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gat>ga	p.ED214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522													8	905	---	---	---	---					
ZC3H7A	29066	broad.mit.edu	37	16	11855848	11855848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)tgfs	p.V711fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	711						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGGGCGCACACAAACTTTATC	0.333													15	211	---	---	---	---					
AC004381.6	0	broad.mit.edu	37	16	20851146	20851146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:20851146delT	ENST00000261377.6	+	14	1662	c.1453delT	c.(1453-1455)ttfs	p.F485fs	AC004381.6_ENST00000348433.6_Frame_Shift_Del_p.F485fs|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Frame_Shift_Del_p.F485fs	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTTAAGGCCTTTTCACCTGT	0.428													7	1004	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)del	p.L974del	TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-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						CCTGCCCCTCCTGCTGCTGCTGC	0.709													9	579	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													8	746	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													14	530	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													11	704	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs11296516		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465													8	31	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													9	1376	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7796803	7796804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:7796803_7796804insC	ENST00000380358.4	+	5	887_888	c.886_887insC	c.(886-888)cggfs	p.R296fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.R237fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.R237fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	237					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATAGCACCCTCCGGACCCCCC	0.653													7	184	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:12647692_12647694delCAG	ENST00000425538.1	+	8	1110_1112	c.910_912delCAG	c.(910-912)del	p.Q310del	MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													7	214	---	---	---	---					
UPF3AP2	0	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													14	20	---	---	---	---					
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)agfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577													8	312	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48940610_48940612delGTG	ENST00000499247.2	-	2	1200_1202	c.767_769delCAC	c.(766-771)cag>c	p.PQ256del	TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													7	279	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													15	1386	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agc>ag	p.ST2348del	BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2348	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542													11	851	---	---	---	---					
CD300C	10871	broad.mit.edu	37	17	72541049	72541050	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:72541049_72541050insGC	ENST00000330793.1	-	2	458_459	c.98_99insGC	c.(97-99)gccfs	p.A33fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	33	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCCACGGGGCCCGCCACGGT	0.564													9	941	---	---	---	---					
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtfs	p.QC561fs	ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	561	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGGGCCAGTGTGTGTGTGA	0.604													7	1340	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													8	518	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													11	839	---	---	---	---					
LAMA1	284217	broad.mit.edu	37	18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)acfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCCGGGGGTTTTTTTCCTT	0.532													7	798	---	---	---	---					
NPIPB1P	0	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621																											CTCTTCCCCCGAAAAATGACAA	0.401													7	24	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67697249	67697249	+	Splice_Site	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:67697249delT	ENST00000255674.6	-	42	6030	c.5745_splice	c.e42+1	p.K1915_splice	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATGTTACCTTTTTTTTCAA	0.398													8	502	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													14	677	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													9	702	---	---	---	---					
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:18887993delC	ENST00000338797.6	+	15	1779	c.1754delC	c.(1753-1755)tcfs	p.S585fs	CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637													7	664	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													9	1432	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													8	163	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													7	1594	---	---	---	---					
LIPE-AS1	0	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						TGAGTATGTATGTGTGTGTGTG	0.505													8	146	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591													8	172	---	---	---	---					
SIGLEC7	27036	broad.mit.edu	37	19	51645628	51645630	+	Translation_Start_Site	DEL	TGC	TGC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51645628_51645630delTGC	ENST00000317643.6	+	0	71_73				SIGLEC7_ENST00000600577.1_Start_Codon_Del|SIGLEC7_ENST00000305628.7_Start_Codon_Del	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7						cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCCAGATAtgctgctgctgct	0.596													9	272	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	1247	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)gtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478													11	727	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													11	915	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													16	168	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													15	486	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													12	237	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs144357389	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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)			8	875	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													9	413	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:152087570_152087572delGAG	ENST00000535861.1	+	7	523_525	c.475_477delGAG	c.(475-477)del	p.E165del	ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													8	107	---	---	---	---