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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													15	601					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637462	45637462	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:45637462C>T	ENST00000273317.4	+	1	1112	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	364					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAGCAGGGTGCGGTCCCTGGG	0.632000													5	266					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													5	166					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260917	16260917	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16260917G>A	ENST00000375759.3	+	11	8386	c.8182G>A	c.(8182-8184)Gct>Act	p.A2728T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2728	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTCAATGCCGCTGCGAGTGC	0.597000													6	360					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527078	7527078	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:7527078G>A	ENST00000313599.3	-	13	3426	c.3369C>T	c.(3367-3369)caC>caT	p.H1123H	CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1123	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCAGTCGTGCTGCCCCC	0.607000													6	332					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378000													5	146					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1259139	1259139	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:1259139C>T	ENST00000348261.5	+	17	3719	c.3471C>T	c.(3469-3471)cgC>cgT	p.R1157R	CACNA1H_ENST00000358590.4_Silent_p.R1157R|CACNA1H_ENST00000565831.1_Silent_p.R1157R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1157					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCAAGCGCCGCGGCCAGTGTG	0.741000													4	29					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398000													46	248					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3												p.T4A(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATGGCTCGCACAGGGTGGAC	0.562000													5	294					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102395738	102395738	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:102395738G>A	ENST00000260227.4	-	4	594	c.542C>T	c.(541-543)gCg>gTg	p.A181V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	181					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		TGTCCCAGGCGCAAAGGCATG	0.493000													5	276					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760241	12760241	+	Splice_Site	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2267_splice	c.e19-1	p.R757_splice	MAN2B1_ENST00000221363.4_Splice_Site_p.R756_splice	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATAATCCCGCCTGGGGTTG	0.522000													20	96					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356679	37356679	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:37356679G>A	ENST00000373091.3	-	2	150	c.134C>T	c.(133-135)gCg>gTg	p.A45V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	45					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGGCCGTCCGCATACTCGAA	0.502000													6	775					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521591	125521591	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:125521591C>T	ENST00000431078.1	+	16	2761	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	799	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATACAGAAGCCTCTTACCTCC	0.428000													5	359					0	0	1	0	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													8	555					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													6	192					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													8	821					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGTGCTCGTTGTGGAGGT	0.413000										HNSCC(12;0.0054)			90	363					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													7	693					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494005	55494005	+	Silent	SNP	G	G	A	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000391721.4_Silent_p.P289P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632000													69	263					0	0	1	0	0
ANKRD20A11P	0	broad.mit.edu	37	21	15352088	15352088	+	RNA	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15352088G>A	ENST00000344693.5	-	0	670					NR_027270.1																						CCATCTCCGCGGCGTCGCCCT	0.672000													4	181					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417815	100417815	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100417815G>A	ENST00000358173.3	-	5	1380	c.912C>T	c.(910-912)tgC>tgT	p.C304C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	304	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCCGACGCGGCACTGGCAGA	0.642000													6	807					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													9	230					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887527	9887527	+	Missense_Mutation	SNP	A	A	G	rs145411351	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr18:9887527A>G	ENST00000306084.6	+	2	1250	c.1051A>G	c.(1051-1053)Acc>Gcc	p.T351A	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.T284A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	351	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAGAAGAAACCATCCAGCC	0.572000													5	661					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					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	513					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R722W(1)		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)	GATACCACCCGCACAGGGTCT	0.607000													6	238					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000551245.1	+	10	1160	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000257909.3_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I			Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CGGCGTCTCACCGTTCAACCT	0.552000													8	833					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408000													6	149					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741700	37741700	+	Silent	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGCAAAGATACATGAAACCC	0.413000													42	201					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	571	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACTGAAACGTCGATACAC	0.348000													41	171					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507509	219507509	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:219507509G>A	ENST00000411696.2	-	7	4509	c.3730C>T	c.(3730-3732)Cgc>Tgc	p.R1244C	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1244C			P52746	ZN142_HUMAN	zinc finger protein 142	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTGCAAGCGCAGTTTCGAG	0.542000													6	779					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													6	927					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	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	1252	Acetyltransferase.|Poly-Gln.		Missing.		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.Q1252Q(3)		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	0.547000													5	258					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140228551	140228551	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000378122.3	+	1	1195	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A157A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGCGCGTCCGATGCAG	0.537000													50	255					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013557	74013557	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:74013557G>A	ENST00000331597.4	-	3	469	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	142						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCCTGCAGCCGCATCAGGGCC	0.537000													7	598					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCTCCAGAGACGCTCGATGTG	0.627000													46	190					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													5	101					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961798	41961798	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:41961798G>A	ENST00000219905.7	+	2	887	c.706G>A	c.(706-708)Gta>Ata	p.V236I	MGA_ENST00000545763.1_Missense_Mutation_p.V236I|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000570161.1_Missense_Mutation_p.V236I|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	236						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTTGCAGTAACAGCTTA	0.438000													4	154					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55063026	55063026	+	RNA	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:55063026T>G	ENST00000526016.1	-	0	611					NR_038174.2																						CCATTCTGGCTTTGCTTTCAT	0.423000													25	226					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82126039	82126039	+	Missense_Mutation	SNP	G	G	A	rs138293539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:82126039G>A	ENST00000395578.1	-	2	279	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	55					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGCTGCTCCCGCAGCTCCTTC	0.547000													5	506					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512000													6	395					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGGTGGCCCCCAGCAGA	0.642000													7	163					1.12685e-05	1.19422e-05	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20766557	20766557	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:20766557G>A	ENST00000359062.3	+	3	1232	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	398					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGTGAATCCCGTCACTTCGCT	0.483000													6	321					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25280108	25280108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400358.4	+	15	1641	c.1584C>T	c.(1582-1584)tgC>tgT	p.C528C	SGSM1_ENST00000400359.4_Silent_p.C583C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTGCCCTGCGATGCTGGAC	0.582000													29	154					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													8	1051					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTCGGCCGTAACAGCCGA	0.542000													5	443					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182781	91182781	+	Translation_Start_Site	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:91182781G>A	ENST00000370445.4	-	0	13					NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2							nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCACTCCGCCGTTCAGCAGCC	0.512000													5	352					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597000													6	309					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	493					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50298080	50298080	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:50298080G>A	ENST00000330817.5	-	8	1340	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	356					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTAGGCGGCATTCACCAC	0.537000													5	290					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577000													75	279					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467397	74467397	+	Silent	SNP	G	G	A	rs145245668	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P66P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667000													6	401					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884872	15884872	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15884872G>A	ENST00000285670.2	-	5	680	c.506C>T	c.(505-507)gCc>gTc	p.A169V	SAMSN1_ENST00000400566.1_Missense_Mutation_p.A101V|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	101	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATATGGGTGGGCATTCTCTCC	0.448000													5	422					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													9	229					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711082	195711082	+	RNA	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:195711082G>A	ENST00000427841.1	-	0	650					NR_003264.2																						GGCTGTGTCCGCCAAATGCAC	0.483000													5	383					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73047443	73047443	+	Silent	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:73047443C>A	ENST00000335350.6	+	6	1238	c.822C>A	c.(820-822)acC>acA	p.T274T	UNC5B_ENST00000373192.4_Silent_p.T274T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	274	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGACCTGCACCAACCCCGCTC	0.662000													6	463					4.096e-09	4.43733e-09	1	1	0
CPN2	1370	broad.mit.edu	37	3	194062235	194062235	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGGCAGTCGCACTGCCAGG	0.597000													67	234					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109520716	109520716	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:109520716G>A	ENST00000257548.5	+	11	1110	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	USP30_ENST00000392784.2_Silent_p.R308R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	339					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R330R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTCTGAAGCGGCATGAGCACG	0.532000													5	227					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000													5	425					0.00448238	0.00457625	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	407	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373000													5	277					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	rs116405601	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACATTTAGCCGTAAAACCTCA	0.378000													6	458					0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195295972	195295972	+	Silent	SNP	G	G	A	rs138771984		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:195295972G>A	ENST00000343267.3	-	5	730	c.369C>T	c.(367-369)acC>acT	p.T123T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	123					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTCATAGTCGGTGGCCAGGA	0.493000													5	450					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	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	p.T460A(1)		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						CAAGGAGCCTACACCCACCAC	0.657000													15	674					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	169					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38151606	38151606	+	Missense_Mutation	SNP	G	G	A	rs150426001	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38151606G>A	ENST00000406386.3	+	15	5882	c.5627G>A	c.(5626-5628)cGg>cAg	p.R1876Q	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1876	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCATCCGGCGGAACTGGATC	0.582000													4	264					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45755737	45755737	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45755737G>A	ENST00000290158.4	+	19	2718	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R	KPNB1_ENST00000540627.1_Missense_Mutation_p.G626R|KPNB1_ENST00000537679.1_Missense_Mutation_p.G555R|KPNB1_ENST00000535458.2_Missense_Mutation_p.G626R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	771					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCCTATACTGGAATCGTCCA	0.478000													5	379					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009866	184009866	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:184009866G>A	ENST00000402825.3	+	19	2492	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	831	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.R684H(1)|p.R759H(1)|p.R831H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCGGTCCGCACACCAGAG	0.662000													5	287					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188312	135188312	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135188312G>A	ENST00000274513.5	+	4	395	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000420621.1_Missense_Mutation_p.V75M|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	75					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CTACAACTCCGTGGTGTTTGG	0.617000													6	766					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488000													7	1045					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102300677	102300677	+	RNA	SNP	C	C	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102300677C>G	ENST00000561463.1	+	0	8723																											AACCTGCAGACACTTGTGGAG	0.582000													14	103					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:157528080G>A	ENST00000346085.5	+	20	5806	c.5805G>A	c.(5803-5805)gcG>gcA	p.A1935A	ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000350026.5_Silent_p.A1922A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537000													6	508					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642000													5	255					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93								p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493000													8	1188					2.17888e-05	2.29665e-05	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													7	294					0	0	1	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114296	27114296	+	Missense_Mutation	SNP	C	C	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:27114296C>G	ENST00000396891.4	-	1	323	c.282G>C	c.(280-282)gaG>gaC	p.E94D	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E94D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCGTCTGGATCTCCCTGGAGG	0.612000													5	603					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													6	378					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1256428	1256428	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:1256428G>A	ENST00000540437.1	-	4	547	c.92C>T	c.(91-93)gCg>gTg	p.A31V	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_5'UTR	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	25						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATTCTTGCCCGCAATGGAGAC	0.657000													6	580					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000													6	53					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141297778	141297778	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:141297778G>A	ENST00000389328.4	-	13	2218	c.2204C>T	c.(2203-2205)cCg>cTg	p.P735L	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P637L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	637					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGATTCAGCCGGAAGAGAAAG	0.587000													5	361					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493000													315	1295					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677000			Mis		uveal melanoma								6	557					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	T	G	rs111568648		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21731075T>G	ENST00000584755.1	+	2	774	c.377T>G	c.(376-378)cTg>cGg	p.L126R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCTGGAAGATGGC	0.537000													6	243					0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603714	28603714	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:28603714C>T	ENST00000533150.1	-	3	1662	c.546G>A	c.(544-546)ctG>ctA	p.L182L	SULT1A2_ENST00000395630.1_Silent_p.L215L|SULT1A2_ENST00000335715.4_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	483					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57224419	57224419	+	Silent	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318000													26	95					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592000													8	929					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													7	141					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148379	69148379	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69148379G>A	ENST00000306560.1	+	4	1028	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R291H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	291					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCATGTACCGCAACAGCCTC	0.597000													5	406					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000360409.3	+	10	2525	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	578	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGAGAGGTGGTCGCCGGCGG	0.582000													57	184					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000281038.5	-	10	1360	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGCTTTAAGATCTCCACTGCT	0.378000													41	207					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	231					0.0215528	0.0218895	1	1	0
WDR70	55100	broad.mit.edu	37	5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413000													6	402					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	251					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													6	523					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGGAACCGGGTAAAGCT	0.478000													26	75					0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80878728	80878728	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:80878728C>T	ENST00000545529.1	+	5	642	c.614C>T	c.(613-615)gCc>gTc	p.A205V	BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V|BCKDHB_ENST00000320393.6_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	205					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCATTTTTTGCCCATTGCCCA	0.393000													5	413					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAAAACAACCCGGAGATTCTT	0.388000													17	270					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000373965.2	-	13	1823	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4.				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)				TCTTCCCTGTCCACTGGTTGA	0.398000										HNSCC(58;0.16)			52	238					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345148	23345148	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:23345148G>A	ENST00000338121.5	+	2	205	c.128G>A	c.(127-129)cGc>cAc	p.R43H	GZF1_ENST00000377051.2_Missense_Mutation_p.R43H|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	43	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGGGTGTCCGCAAAGACTTC	0.502000													5	265					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													5	170					0.000602214	0.000631354	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296158G>A	ENST00000345847.4	-	1	581	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000													7	55					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127693473	127693473	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:127693473C>T	ENST00000368695.1	+	7	664	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FANK1_ENST00000368693.1_Missense_Mutation_p.A187V|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	187						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCGTGCTATGCGGGACACCTA	0.512000													6	539					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233466	65233466	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:65233466G>A	ENST00000389722.3	-	31	6376	c.6323C>T	c.(6322-6324)gCg>gTg	p.A2108V	SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2108					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCGGTGGCCGCATGGTGGGA	0.592000													6	892					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													11	414					6.31663e-08	6.80521e-08	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													7	505					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667000													6	618					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329757	50329757	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:50329757C>T	ENST00000336089.4	-	4	446	c.447G>A	c.(445-447)gaG>gaA	p.E149E	IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000429673.2_Silent_p.E47E			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	47							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTGTGGGCTCCAGGCCAA	0.756000													8	29					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:39735383C>T	ENST00000395670.3	-	14	2264	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000544797.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398000													4	131					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													5	150					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368000													5	237					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000													32	64					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2968267	2968267	+	Silent	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:2968267G>T	ENST00000396946.4	-	13	2122	c.1719C>A	c.(1717-1719)atC>atA	p.I573I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	573					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.I566I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCGTCTGACGATGGAGTCGT	0.642000			Mis		DLBCL								5	627					1	1	1	1	0
DRD5	0	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					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)	TGCTGGTCATGCCCTGGAAGG	0.637000													7	295					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000330966.7	-	11	1322	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	MYOM3_ENST00000374434.3_Missense_Mutation_p.R386K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGGCAGTCTCTGTTCACATC	0.647000													8	541					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGAGTCCGGCATCATTCT	0.488000													101	402					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													6	536					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263855	105263855	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:105263855G>A	ENST00000507740.1	+	22	3535	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1304H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1348					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATTATGGCCGCATGGATCAC	0.378000										HNSCC(12;0.0054)			6	530					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	C	T	rs147635537		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514							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)			AATGTGTGTGCGAGCCCCCTG	0.493000													9	1456					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97414940	97414940	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:97414940C>T	ENST00000369261.4	+	2	367	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	2								p.P2S(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTGGAAAATGCCGTCTGAACG	0.478000													4	142					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40886790	40886790	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:40886790G>A	ENST00000291823.2	-	3	1392	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	370						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCGAGAGGCGGTAGCTGCGC	0.677000													5	684					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000219919.4	+	3	656	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCTCTTTGGACGGATGAAATG	0.468000													14	805					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				4	302					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572000													5	299					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													5	486					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105568136	105568136	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:105568136C>A	ENST00000258530.3	-	21	2176	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	651					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGATTTCCATCATCGTCATCT	0.463000													4	206					0.150653	0.15143	1	1	0
GPRC5C	0	broad.mit.edu	37	17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000392627.1	+	2	2265	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	335						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGGTCAGAGCATGTTCGTG	0.577000													7	267					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41794801	41794801	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:41794801C>T	ENST00000396930.3	-	17	3868	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1109					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCTTCATCTTCTTCTTCATCT	0.403000													45	212					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19439063	19439063	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:19439063G>A	ENST00000375267.2	-	78	11759	c.11756C>T	c.(11755-11757)gCg>gTg	p.A3919V	UBR4_ENST00000375254.3_Missense_Mutation_p.A3919V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3919					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATGGCCGCAGCCCCTCG	0.597000													6	540					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488000													4	121					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558325	113558325	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:113558325G>T	ENST00000284601.3	-	1	795	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	243					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTTCCATGGTTTTACAGGC	0.313000													5	492					0.00198382	0.0020468	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			14	94					1.5739e-10	1.71458e-10	1	1	0
GGT3P	0	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:18778601C>T	ENST00000412448.1	-	0	804																											GCTTGGCATCCGCGGCCACGG	0.627000													13	26					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCCTATCGTACCGATACTTT	0.393000													67	248					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423000													6	876					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84793046	84793046	+	Silent	SNP	G	G	A	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGTGCAAAGGCCTTGTACGT	0.448000													8	261					0	0	1	0	0
GPR84	0	broad.mit.edu	37	12	54756514	54756514	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:54756514G>A	ENST00000551809.1	-	1	1757	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	374						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGAATTGGCGGTTCATGGCTG	0.542000													7	878					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168195	49168195	+	Silent	SNP	G	G	A	rs150731491		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:49168195G>A	ENST00000418109.1	-	9	1178	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	LAMB2_ENST00000305544.4_Silent_p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	338	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTATGGCCGTCCTCAGCCG	0.577000													6	687					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568354	7568354	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:7568354C>T	ENST00000340209.4	+	2	545	c.248C>T	c.(247-249)gCg>gTg	p.A83V	RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	78					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGAGCCCGGCGGACACGAGC	0.652000													165	612					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													10	936					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130																											GACATCAACATGAACACCATC	0.632000													4	120					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930823	133930823	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:133930823C>T	ENST00000298622.4	+	2	516	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617000													5	390					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350592	100350592	+	RNA	SNP	T	T	C	rs112032841		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100350592T>C	ENST00000542585.1	+	0	3012				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512000													14	619					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000436152.2	-	10	1167	c.608G>A	c.(607-609)cGc>cAc	p.R203H	IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662000													72	395					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161441	42161441	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:42161441G>A	ENST00000444063.1	+	9	1175	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.G416D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	348					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGTGGGCATGAAGCTG	0.612000													6	859					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550904	8550904	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:8550904G>A	ENST00000348943.3	+	15	1707	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCATGGAGCGCATGGTGCCC	0.687000													5	489					0	0	1	0	0
CRYGA	1418	broad.mit.edu	37	2	209025627	209025627	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:209025627C>T	ENST00000304502.4	-	3	445	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCAGATACTGCCGCCCCCGGT	0.577000													7	681					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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								5	110					0	0	1	0	0
PCDHGA10	0	broad.mit.edu	37	5	140793857	140793857	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140793857T>C	ENST00000398610.2	+	1	1115	c.1115T>C	c.(1114-1116)cTt>cCt	p.L372P	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGTAGCCCTTTTAAATGTG	0.398000													4	163					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	164										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)			CCCTACTGCGGTCAACGTGAC	0.572000													10	52					7.48243e-07	7.97308e-07	1	1	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													5	70					0.00448238	0.00457625	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5781711	5781711	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:5781711C>T	ENST00000328090.5	+	13	2203	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	526																	AAAACTCCATCGTCAACTATG	0.418000													11	497					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161696656	161696656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:161696656C>A	ENST00000367946.3	+	5	607	c.593C>A	c.(592-594)tCg>tAg	p.S198*	FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367948.2_Missense_Mutation_p.F246L|FCRLB_ENST00000336830.5_Silent_p.R212R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	309						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGCGCCGCTTCGACTGGGGCG	0.687000													12	61					0.00136819	0.00141914	1	1	0
SNHG14	0	broad.mit.edu	37	15	25310190	25310190	+	RNA	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310190T>C	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							TGATGAGTCCTCCAAAAAAAA	0.483000													7	533					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25310192	25310192	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310192C>A	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							ATGAGTCCTCCAAAAAAAACA	0.478000													6	548					0.00116845	0.00121843	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													7	215					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCCAGCTCTCTGAAAAGG	0.473000													9	474					7.48243e-07	7.97308e-07	1	1	0
NACA	4666	broad.mit.edu	37	12	57111542	57111542	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:57111542G>A	ENST00000454682.1	-	3	4053	c.3772C>T	c.(3772-3774)Cca>Tca	p.P1258S	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGGGGGGTGGGGTAGCTGGG	0.657000			T	BCL6	NHL								8	713					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													8	763					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684253	100684253	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100684253G>A	ENST00000306151.4	+	3	9620	c.9556G>A	c.(9556-9558)Gca>Aca	p.A3186T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3186	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCCTTTCAGCAACTCCTGT	0.483000													9	1350					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)cafs	p.Q1587fs	CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								7	1090	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													7	430	---	---	---	---					
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)del	p.E433del	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													7	354	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)ccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													8	337	---	---	---	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cga>c	p.RG63del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	63					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													8	386	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152086555	152086556	+	Translation_Start_Site	INS	-	-	T	rs141946179		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGGAGACATTTTTTTTTCT	0.361													7	188	---	---	---	---					
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cgg>cg	p.RQ8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552													7	634	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	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													8	1756	---	---	---	---					
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:156565503_156565504insT	ENST00000368232.4	-	8	746_747	c.614_615insA	c.(613-615)aaafs	p.K205fs	GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535													7	590	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													12	212	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													8	517	---	---	---	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:202097525_202097527delCTG	ENST00000367282.4	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gac>ga	p.DC429del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	429	Cys-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626													7	206	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caa>ca	p.HQ469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													7	944	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													11	203	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-	rs140194798		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)atfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													10	304	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													12	83	---	---	---	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tct>tc	p.SS69del	TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													7	769	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggfs	p.G335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582													7	821	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)del	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													7	291	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-756)cacfs	p.H252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693													11	1265	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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	239	---	---	---	---					
FHDC1	85462	broad.mit.edu	37	4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403													7	1882	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				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)		GCTCCACACAAAGAAGGTTTGTG	0.414													7	569	---	---	---	---					
CEP72	55722	broad.mit.edu	37	5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gag>g	p.EQ490del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	490					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621													9	338	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													7	626	---	---	---	---					
PCDHB4	0	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(904-909)ttaaaafs	p.LK302fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													10	659	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1																						TGAAAATAGGATTGGGAGAGTA	0.475													7	65	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32549374	32549393	+	Frame_Shift_Del	DEL	CACTTGGCAGGTGTAAACCT	CACTTGGCAGGTGTAAACCT	-	rs34938122		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT	ENST00000360004.5	-	3	698_717	c.593_612delAGGTTTACACCTGCCAAGTG	c.(592-612)gfs	p.EVYTCQV198fs		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTGGGTGCTCCACTTGGCAGGTGTAAACCTCTCCACTTCG	0.536										Multiple Myeloma(14;0.17)			16	1283	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													11	1098	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)ttfs	p.F269fs	BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				7	682	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-	rs142340746		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaa>ga	p.EE338del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.									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)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													7	374	---	---	---	---					
PBK	55872	broad.mit.edu	37	8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aaafs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322													22	86	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)agfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328													8	879	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tca>tc	p.SS879del		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655													7	94	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145006627	145006629	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:145006627_145006629delCCT	ENST00000322810.4	-	16	2496_2498	c.2327_2329delAGG	c.(2326-2331)gtg>g	p.EV776del	PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	776	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAAGCCCACCTCCTCCTCCTC	0.621													7	623	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													8	15	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091693	35091693	+	Frame_Shift_Del	DEL	G	G	-	rs148341577		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:35091693delG	ENST00000378617.3	-	7	2585	c.2191delC	c.(2191-2193)gtfs	p.R731fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Del_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.R731fs*17(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCCGGAGACGGGGGGGAGCC	0.662													7	683	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggt>gg	p.GG445del	ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					8	690	---	---	---	---					
DNA2	1763	broad.mit.edu	37	10	70179623	70179623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:70179623delT	ENST00000399180.2	-	18	2981	c.2982delA	c.(2980-2982)aafs	p.K994fs	DNA2_ENST00000358410.3_Frame_Shift_Del_p.K908fs|DNA2_ENST00000399179.2_Frame_Shift_Del_p.K670fs			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	908					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCACACCACCTTTTTCAACTT	0.358													7	520	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													8	158	---	---	---	---					
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)ccc>cc	p.PP171del	DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)					10	434	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													8	698	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					16	581	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				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|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													8	246	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													9	363	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													9	285	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:25525716delA	ENST00000429698.1	-	0	282																											TGGAAGAAACAAAAAAAAGAA	0.383													7	8	---	---	---	---					
ZNF219	0	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:21884031delT	ENST00000399982.2	-	5	1816	c.1752delA	c.(1750-1752)aafs	p.K584fs	CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398													7	668	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	359	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													8	227	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gag>g	p.EQ544del	TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	544					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													10	385	---	---	---	---					
IGHV3-23	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													9	358	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													7	1048	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|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													7	306	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													7	39	---	---	---	---					
TMC7	79905	broad.mit.edu	37	16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:19058506delT	ENST00000421369.3	+	12	1903	c.1345delT	c.(1345-1347)ttfs	p.F450fs	TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502													9	1688	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													13	274	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418													4	8	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)ctfs	p.P27fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTGTTTTCAGGAAGTCTGAA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	226	---	---	---	---					
CSF3	1440	broad.mit.edu	37	17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:38172769delT	ENST00000331769.2	+	3	539	c.323delT	c.(322-324)ctfs	p.L108fs	CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAGCGGCCTTTTCCTCTAC	0.627													8	1059	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													8	353	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	731	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													8	101	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs140158594	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr18:112519_112520insA	ENST00000576266.1	+	0	153_154																											CCAGCTCCCCCGGGGCCTCCGT	0.530													8	141	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													8	1040	---	---	---	---					
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)del	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.700													9	739	---	---	---	---					
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.510													10	366	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)cccfs	p.P49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		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)					GCAGGGCCTGGCCCCCCCCACT	0.728													7	255	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													10	1210	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggg>gg	p.GE381del	PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635													9	209	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													7	278	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	290	---	---	---	---