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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZC2HC1C	79696	broad.mit.edu	37	14	75537764	75537764	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:75537764T>G	uc001xrh.3	+	1	661	c.488T>G	c.(487-489)gTc>gGc	p.V163G	ZC2HC1C_uc001xri.3_Missense_Mutation_p.V163G	NM_024643	NP_078919	Q53FD0	F164C_HUMAN	Homo sapiens family with sequence similarity 164, member C (FAM164C), transcript variant 1, mRNA.	163																	GACCATAATGTCTACCCAAGG	0.537000														811			66		0	0	0.870114	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														57			4		0	0	0.278610	0	0
P2RY8	286530	broad.mit.edu	37	X	1584907	1584907	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:1584907G>A	uc022brv.1	-	0	545	c.545C>T	c.(544-546)aCg>aTg	p.T182M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T182M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGAGCATCGTCCACTTGAG	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""									247			16		0	0	0.500413	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	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).		Ras protein signal transduction|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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(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)				128			10		3.45872e-05	3.63806e-05	0.500413	1	0
MDGA1	266727	broad.mit.edu	37	6	37631799	37631799	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:37631799G>A	uc003onu.1	-	1	1330	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	51	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCCCCTCCCGGATGGTGTAG	0.637000														424			48		0	0	0.870114	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090615	238090615	+	RNA	SNP	T	C	C	rs2790341	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:238090615T>C	uc010pyc.2	+	11		c.2121T>C								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TCAGGGTCACTCACACGGTGC	0.622000														178			6		0	0	0.217242	0	0
FBN2	2201	broad.mit.edu	37	5	127866347	127866347	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:127866347C>T	uc003kuu.3	-	2	816	c.377G>A	c.(376-378)cGt>cAt	p.R126H	FBN2_uc003kuv.2_Intron|FBN2_uc003kuw.4_Missense_Mutation_p.R126H	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	126	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGTTAGGACGGGAACAAAA	0.338000														308			25		0	0	0.740014	0	0
FOXD4	2298	broad.mit.edu	37	9	117417	117417	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:117417C>G	uc003zfz.3	-	0	1001	c.703G>C	c.(703-705)Gcc>Ccc	p.A235P		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	235	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGGCAGGGGCCCCAAGCAGA	0.736000														169			16		0	0	0.870114	0	0
LAMC1	3915	broad.mit.edu	37	1	182992997	182992997	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:182992997G>T	uc001gpy.4	+	0	403	c.146G>T	c.(145-147)cGc>cTc	p.R49L	LAMC1_uc001gpx.3_Missense_Mutation_p.R49L	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	49	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGCAGCGCTGCATGCCC	0.721000														175			15		2.35188e-11	2.60912e-11	0.539581	1	0
MST1P2	11209	broad.mit.edu	37	1	16974955	16974955	+	RNA	SNP	A	G	G	rs149751487	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:16974955A>G	uc010och.2	+	6		c.1415A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCATGCTTTGATGTCTGGGAC	0.657000														256			7		0	0	0.608945	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:155887399T>G	uc001fmi.1	-	10	1355	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	444	Pro-rich.							p.Q444P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562000														214			29		0	0	0.870114	0	0
STXBP1	6812	broad.mit.edu	37	9	130442473	130442473	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:130442473C>G	uc004brk.2	+	16	1696	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R	STXBP1_uc004brl.2_Missense_Mutation_p.P500R	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	500					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAACACTACCCTTATATCTCT	0.488000														734			65		0	0	0.870114	0	0
ODZ4	26011	broad.mit.edu	37	11	78369429	78369429	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:78369429G>A	uc001ozl.4	-	33	8447	c.7984C>T	c.(7984-7986)Cgc>Tgc	p.R2662C	ODZ4_uc001ozk.4_Missense_Mutation_p.R887C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2662					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCTGTGTAGCGTCTAGTCCTG	0.602000														228			8		0	0	0.278610	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138078	138078	+	RNA	SNP	T	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrGL000195.1:138078T>C	uc003won.1	+	0		c.112T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGTTGCCCTGTGATCTGTAGG	0.597000														25			6		0	0	0.435327	0	0
TTN	7273	broad.mit.edu	37	2	179574354	179574354	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:179574354G>T	uc021vsy.1	-	95	25185	c.24960C>A	c.(24958-24960)taC>taA	p.Y8320*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Y4981*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9247	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCATGTGTACAAACCAG	0.438000														329			24		2.39556e-15	2.69976e-15	0.639603	1	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														74			7		0	0	0.307466	0	0
KLRC2	3822	broad.mit.edu	37	12	10569320	10569320	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:10569320C>T	uc001qyi.1	-	4	578	c.533G>A	c.(532-534)cGt>cAt	p.R178H	KLRC2_uc001qyf.3_Missense_Mutation_p.R178H|KLRC2_uc021qvc.1_Missense_Mutation_p.R178H|KLRC2_uc001qyh.3_Missense_Mutation_p.R178H|KLRC2_uc021qvd.1_Missense_Mutation_p.R178H	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTGCTGTTACGAAACACACC	0.294000														249			23		0	0	0.693898	0	0
CNPY2	10330	broad.mit.edu	37	12	56705037	56705037	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:56705037G>A	uc001sku.2	-	3	915	c.366C>T	c.(364-366)ggC>ggT	p.G122G		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	122	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CGATTCGGATGCCTTGTAGGT	0.502000														795			52		0	0	0.870114	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000														57			8		0	0	0.361761	0	0
SNX20	124460	broad.mit.edu	37	16	50711341	50711341	+	Missense_Mutation	SNP	C	T	T	rs34428900		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:50711341C>T	uc002egk.2	-	1	270	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SNX20_uc010vgp.1_Missense_Mutation_p.D33N|SNX20_uc002egi.3_Missense_Mutation_p.D33N|SNX20_uc021thz.1_Non-coding_Transcript	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	33					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.P32H(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGCGGGAGGTCGGGGCCAGTG	0.617000														506			52		0	0	0.870114	0	0
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:29976959G>A	uc002wvu.1	-	1	256	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458000														592			49		0	0	0.870114	0	0
LHX5	64211	broad.mit.edu	37	12	113905137	113905137	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:113905137C>T	uc001tvj.1	-	3	1339	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCATGCGCCGCGGACTCCGGA	0.657000														60			4		0	0	0.150653	0	0
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:17415843G>A	uc001mnc.3	-	36	4641	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1505	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577000														577			24		0	0	0.639603	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338459	28338459	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:28338459G>A	uc002ymg.3	-	0	981	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	84					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACCTTGCCGCCGCCGGAGT	0.697000														506			23		0	0	0.667858	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896273	151896273	+	RNA	SNP	C	T	T	rs2471768	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:151896273C>T	uc004fgb.3	-	3		c.506G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAAGCGGCGGTCTTTTAG	0.502000														343			11		0	0	0.387290	0	0
ACTG2	72	broad.mit.edu	37	2	74135852	74135852	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:74135852C>T	uc002sjw.3	+	3	430	c.308C>T	c.(307-309)cCc>cTc	p.P103L	ACTG2_uc010yrn.2_Missense_Mutation_p.P60L|ACTG2_uc010fey.3_Missense_Mutation_p.P103L	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	103					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCACCCCACCCTGCTC	0.527000														300			10		0	0	0.411799	0	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	T	T	rs141880038	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:6785797C>T	uc003squ.3	+	10		c.1943C>T			PMS2CL_uc003sqv.1_Non-coding_Transcript					Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA.																		AGAATGGCTTCGATTTTGTTA	0.398000														73			5		0	0	0.184627	0	0
PTGIS	5740	broad.mit.edu	37	20	48130848	48130848	+	Missense_Mutation	SNP	C	T	T	rs13306027		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:48130848C>T	uc002xut.3	-	6	994	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PTGIS_uc010zyi.2_Missense_Mutation_p.E175K	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	314					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGGATACTCTCGAGCTCTCCG	0.587000														343			38		0	0	0.819951	0	0
NUP205	23165	broad.mit.edu	37	7	135258466	135258466	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:135258466G>T	uc003vsw.3	+	2	267	c.236G>T	c.(235-237)gGt>gTt	p.G79V	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	79					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCATTCAGGGTCAACAGGGA	0.398000														332			11		6.40141e-05	6.68383e-05	0.387290	1	0
ZFHX3	463	broad.mit.edu	37	16	72830446	72830446	+	Silent	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:72830446T>G	uc002fck.3	-	8	6808	c.6135A>C	c.(6133-6135)ccA>ccC	p.P2045P	ZFHX3_uc002fcl.3_Silent_p.P1131P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2045	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P2044P(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGGAGGGGGTGGAGGGGGAG	0.632000														458			45		0	0	0.870114	0	0
NRK	203447	broad.mit.edu	37	X	105153065	105153065	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:105153065C>T	uc004emd.3	+	12	1735	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	NRK_uc010npc.1_Missense_Mutation_p.L146F	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	478	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGCCAGGGTGCTCATGCCACT	0.547000										HNSCC(51;0.14)				141			42		0	0	0.834066	0	0
OR5L2	26338	broad.mit.edu	37	11	55595169	55595169	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:55595169C>A	uc001nhy.1	+	0	475	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483000										HNSCC(27;0.073)				879			72		1.4533e-46	1.69155e-46	0.870114	1	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000														120			26		0	0	0.750413	0	0
SIM1	6492	broad.mit.edu	37	6	100896021	100896021	+	Splice_Site	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:100896021C>T	uc003pqj.4	-	7	1317	c.850_splice	c.e7+1	p.L284_splice	SIM1_uc021zdg.1_Splice_Site_p.L284_splice|SIM1_uc010kcu.3_Splice_Site_p.L284_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	284	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGCGCCTTACGCAAATGGTG	0.617000														94			5		0	0	0.184627	0	0
TLR6	10333	broad.mit.edu	37	4	38830874	38830874	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:38830874A>G	uc010ifg.2	-	1	342	c.221T>C	c.(220-222)tTt>tCt	p.F74S	TLR6_uc003gtm.3_Missense_Mutation_p.F74S	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	74					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGATAGAAAGCTCATGTC	0.378000														265			21		0	0	0.624587	0	0
ATR	545	broad.mit.edu	37	3	142185227	142185227	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:142185227T>G	uc003eux.4	-	39	6958	c.6836A>C	c.(6835-6837)aAc>aCc	p.N2279T	ATR_uc003euy.1_Missense_Mutation_p.N165T	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2279					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTAGCATGGTTAGCATGGGT	0.368000								Other conserved DNA damage response genes						400			44		0	0	0.870114	0	0
LOC341056	341056	broad.mit.edu	37	11	122888482	122888482	+	RNA	SNP	A	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:122888482A>C	uc010rzt.2	+	0		c.209A>C								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		CAGGCATGAAAGGACTCGGGG	0.572000														353			31		0	0	0.796494	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326405	15326405	+	RNA	SNP	C	T	T	rs8127713	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:15326405C>T	uc002yji.2	-	1		c.810G>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TTTCCATTGACTATTCTGTTT	0.423000														470			8		0	0	0.278610	0	0
RP1L1	94137	broad.mit.edu	37	8	10468915	10468915	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:10468915G>A	uc003wtc.3	-	3	2922	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	898					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGGACGGCGTGGGGCCTGG	0.701000														71			4		0	0	0.150653	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711866	40711866	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:40711866C>T	uc002ona.3	+	4	1525	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	413					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACAGGAGCAGCGCTTCCAGGA	0.672000														55			4		0	0	0.150653	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)				350			32		0	0	0.796494	0	0
FSHR	2492	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:49190896G>T	uc002rww.3	-	9	1174	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	FSHR_uc010fbn.3_Missense_Mutation_p.P329Q|FSHR_uc002rwx.3_Missense_Mutation_p.P293Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453000									Gonadal Dysgenesis, 46 XX					417			41		7.05121e-23	8.01018e-23	0.853193	1	0
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:27106228C>T	uc001bmv.1	+	19	6212	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1730*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q793*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q275*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q189*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									832			35		0	0	0.740014	0	0
CRB2	286204	broad.mit.edu	37	9	126129592	126129592	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:126129592G>A	uc004bnx.1	+	4	988	c.896G>A	c.(895-897)cGc>cAc	p.R299H	CRB2_uc004bnw.1_Missense_Mutation_p.R299H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	299	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTCAGCTTCCGCCATGCTGCG	0.687000														219			12		0	0	0.387290	0	0
GPI	2821	broad.mit.edu	37	19	34868485	34868485	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:34868485C>T	uc002nvf.3	+	5	767	c.597C>T	c.(595-597)tcC>tcT	p.S199S	GPI_uc010xrv.2_Intron|GPI_uc002nvg.2_Silent_p.S160S|GPI_uc010xrw.2_Intron	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	160					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCGGCTCCGACCTGGTGA	0.597000														447			24		0	0	0.667858	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696673	112696673	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:112696673A>G	uc010qrh.1	-	0	341	c.319T>C	c.(319-321)Tgc>Cgc	p.C107R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.																		GGTGGGATGCAGTCAAACACC	0.592000														155			5		0	0	0.278610	0	0
PGM2	55276	broad.mit.edu	37	4	37863199	37863199	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:37863199C>A	uc011byb.1	+	13	1878	c.1805C>A	c.(1804-1806)cCa>cAa	p.P602Q	PGM2_uc011byc.1_Missense_Mutation_p.P442Q	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	602					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTTTCCAGCCACAGAAGTAC	0.403000														548			49		6.3091e-27	7.28368e-27	0.870114	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926868	22926868	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:22926868C>A	uc002dli.3	+	1	1161	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	363						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGGGCAGGACTTCAGGTGGG	0.463000														598			21		3.01185e-09	3.31537e-09	0.667858	1	0
BAI2	576	broad.mit.edu	37	1	32222194	32222194	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32222194G>C	uc001btn.3	-	3	598	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BAI2_uc010ogp.2_Missense_Mutation_p.R70G|BAI2_uc010ogq.2_Missense_Mutation_p.R82G|BAI2_uc001bto.3_Missense_Mutation_p.R82G|BAI2_uc001btq.1_Missense_Mutation_p.R70G|BAI2_uc010ogr.1_Missense_Mutation_p.R70G	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	82					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGTTGAAGCGCAGGTAGAGG	0.647000														97			9		0	0	0.361761	0	0
PNPLA7	375775	broad.mit.edu	37	9	140357967	140357967	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:140357967G>A	uc010ncj.1	-	28	3580	c.3243C>T	c.(3241-3243)taC>taT	p.Y1081Y	PNPLA7_uc004cnd.1_Silent_p.Y322Y|PNPLA7_uc004cne.1_Silent_p.Y322Y|PNPLA7_uc011mfa.1_Silent_p.Y464Y|PNPLA7_uc004cnf.2_Silent_p.Y1056Y	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1056	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGCACGCACGTACCACCACA	0.657000														33			3		0	0	0.115264	0	0
CCDC28B	79140	broad.mit.edu	37	1	32669888	32669888	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32669888G>A	uc021okt.1	+	3	565	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CCDC28B_uc001bul.1_Missense_Mutation_p.D145N|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	145										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAGGAGGACGATGAAGAGGA	0.577000														418			23		0	0	0.667858	0	0
OBSCN	84033	broad.mit.edu	37	1	228467880	228467880	+	Splice_Site	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:228467880C>T	uc009xez.1	+	29	7708	c.7664_splice	c.e29-1	p.A2555_splice	OBSCN_uc001hsn.3_Splice_Site_p.A2555_splice|OBSCN_uc001hsp.1_Splice_Site_p.A254_splice|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2555	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTTGCAGCGCGGGAGGTG	0.642000														412			43		0	0	0.870114	0	0
BTBD6	90135	broad.mit.edu	37	14	105716868	105716868	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:105716868C>T	uc010tyq.2	+	4	1425	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	439						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TGGACGGCAGCGAACTCAGCT	0.592000														619			64		0	0	0.870114	0	0
CASC5	57082	broad.mit.edu	37	15	40898600	40898600	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:40898600C>G	uc010bbs.1	+	3	246	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Missense_Mutation_p.P29A|CASC5_uc010bbt.1_Missense_Mutation_p.P29A	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	29	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATATTGAAACCCCCAAGGAG	0.318000														248			8		0	0	0.335167	0	0
DNAH10	196385	broad.mit.edu	37	12	124352474	124352474	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124352474G>T	uc001uft.4	+	41	6998	c.6973G>T	c.(6973-6975)Gat>Tat	p.D2325Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2325					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGATGTTGGATGCGTTGCT	0.512000														133			8		5.4927e-09	5.99972e-09	0.307466	1	0
MED12L	116931	broad.mit.edu	37	3	151129293	151129293	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:151129293G>A	uc003eyp.3	+	38	6162	c.6033G>A	c.(6031-6033)caG>caA	p.Q2011Q	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2011	Gln-rich.				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)			CTGGCTCTCAGAGGTGATACA	0.478000														394			37		0	0	0.779181	0	0
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:75579249C>T	uc002fek.3	-	3	708	c.669_splice	c.e3+1	p.N223_splice	CHST5_uc002fej.1_Intron|TMEM231_uc002fel.3_Splice_Site_p.N78_splice|TMEM231_uc002fem.3_Splice_Site_p.N194_splice|TMEM231_uc010vne.1_Intron	NM_001077416	NP_001070887	Q9H6L2	TM231_HUMAN	Homo sapiens transmembrane protein 231 (TMEM231), transcript variant 1, mRNA.	194						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507000														856			21		0	0	0.624587	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														268			41		0	0	0.870114	0	0
TRIM37	4591	broad.mit.edu	37	17	57093064	57093064	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:57093064C>T	uc002iwy.4	-	20	2927	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	TRIM37_uc002iwz.4_Missense_Mutation_p.R828Q|TRIM37_uc002ixa.4_Missense_Mutation_p.R706Q|TRIM37_uc010woc.2_Missense_Mutation_p.R794Q	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	828						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACACTGCCGGTCTTCAGT	0.502000									Mulibrey Nanism					697			27		0	0	0.717897	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896334	151896334	+	RNA	SNP	G	A	A	rs2515828	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:151896334G>A	uc004fgb.3	-	3		c.445C>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.									p.P26P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCTTCCGGGTTGTCTTG	0.527000														284			10		0	0	0.335167	0	0
GPR179	440435	broad.mit.edu	37	17	36499508	36499508	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:36499508C>T	uc002hpz.3	-	0	186	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCCTCGGCCCCCTCTAGGG	0.637000														407			14		0	0	0.500413	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														67			5		0	0	0.335167	0	0
C4orf40	401137	broad.mit.edu	37	4	71024100	71024100	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71024100T>C	uc003hfa.4	+	3	204	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C4orf40_uc003hfb.4_Missense_Mutation_p.I44T	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	44			I -> L (in dbSNP:rs1612460).	I -> V (in Ref. 1; CAE45962).		extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTATGGCATACGGAATTTA	0.438000														778			47		0	0	0.870114	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		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									248			6		0	0	0.335167	0	0
LRRN2	10446	broad.mit.edu	37	1	204588995	204588995	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:204588995C>T	uc021phy.1	-	0	126	c.126G>A	c.(124-126)acG>acA	p.T42T	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.T42T|LRRN2_uc001hbf.1_Silent_p.T42T|LRRN2_uc009xbf.1_Silent_p.T42T|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	42	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACGAGCGGGGCGTATACCAGG	0.667000														225			13		0	0	0.411799	0	0
SFRP2	6423	broad.mit.edu	37	4	154709592	154709592	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:154709592G>A	uc003inv.1	-	0	637	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	132	FZ.			Missing (in Ref. 7; AAB70792).	brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGGGAAGCCGAAGGCGGACA	0.662000														666			28		0	0	0.706142	0	0
HELQ	113510	broad.mit.edu	37	4	84375061	84375061	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:84375061T>C	uc003hom.3	-	1	514	c.335A>G	c.(334-336)gAt>gGt	p.D112G	HELQ_uc010ikb.3_Missense_Mutation_p.D112G|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.D6G|HELQ_uc003hoo.1_Missense_Mutation_p.D75G|HELQ_uc003hop.1_Missense_Mutation_p.D6G|HELQ_uc003hoq.1_Missense_Mutation_p.D112G|MRPS18C_uc003hor.4_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTAAAGCTATCATAGTCACC	0.378000								Other identified genes with known or suspected DNA repair function						744			36		0	0	0.870114	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718456	103718456	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:103718456G>A	uc001vpy.4	-	0	741	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	48					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.F47F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCCCATGGAGAACATCA	0.493000														822			32		0	0	0.779181	0	0
TRIP12	9320	broad.mit.edu	37	2	230660000	230660000	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:230660000G>A	uc002vpx.1	-	25	3891	c.3782C>T	c.(3781-3783)gCa>gTa	p.A1261V	TRIP12_uc021vxw.1_Missense_Mutation_p.A1246V|TRIP12_uc002vpy.1_Missense_Mutation_p.A943V|TRIP12_uc002vpw.1_Missense_Mutation_p.A1213V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAACAAAGGTGCATTACCCAC	0.408000														300			25		0	0	0.681144	0	0
GALNT14	79623	broad.mit.edu	37	2	31178784	31178784	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:31178784G>A	uc002rns.3	-	5	1181	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	GALNT14_uc002rnq.3_Missense_Mutation_p.R156W|GALNT14_uc010ymr.2_Missense_Mutation_p.R141W|GALNT14_uc002rnr.3_Missense_Mutation_p.R176W|GALNT14_uc010ezo.2_Missense_Mutation_p.R143W|GALNT14_uc010ezp.1_Missense_Mutation_p.R147W	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	176	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTACCTTGCCGTTCATTATTG	0.522000														761			68		0	0	0.870114	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000														130			4		0	0	0.278610	0	0
MECP2	4204	broad.mit.edu	37	X	153297998	153297998	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:153297998A>G	uc004fjv.2	-	2	263	c.37T>C	c.(37-39)Tca>Cca	p.S13P	MECP2_uc004fjw.2_Missense_Mutation_p.S25P	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	13					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCTTCTGACTTTTCTTCC	0.473000														368			9		0	0	0.335167	0	0
RECK	8434	broad.mit.edu	37	9	36058869	36058869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:36058869C>T	uc003zyv.3	+	2	291	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RECK_uc003zyu.4_Nonsense_Mutation_p.R69*|RECK_uc003zyw.3_5'UTR|RECK_uc010mle.1_Non-coding_Transcript|RECK_uc003zyx.3_5'Flank	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	69	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTGTTGCAGCGAGCCCCAGA	0.333000														221			35		0	0	0.804634	0	0
GPX1	2876	broad.mit.edu	37	3	49395586	49395586	+	Silent	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:49395586G>T	uc021wxw.1	-	0	206	c.126C>A	c.(124-126)atC>atA	p.I42I	GPX1_uc021wxx.1_Silent_p.I42I	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	42					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCACATTCTCGATAAGTAGTA	0.711000														85			5		2.0095e-06	2.14548e-06	0.248553	1	0
PRR23B	389151	broad.mit.edu	37	3	138738751	138738751	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:138738751C>T	uc003esy.1	-	0	1018	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667000														182			12		0	0	0.435327	0	0
MDGA2	161357	broad.mit.edu	37	14	47343307	47343307	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:47343307C>T	uc001wwj.4	-	12	2692	c.2534G>A	c.(2533-2535)aGa>aAa	p.R845K	MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.R547K|MDGA2_uc010ani.3_Missense_Mutation_p.R336K	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	776	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTGTATTTCTTGTTGCTGT	0.373000														542			23		0	0	0.639603	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792702	38792702	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:38792702C>T	uc002hux.2	-	5	438	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SMARCE1_uc010wff.1_Missense_Mutation_p.R70Q|SMARCE1_uc010wfg.1_Missense_Mutation_p.R35Q|SMARCE1_uc002huy.2_Missense_Mutation_p.R70Q|SMARCE1_uc010wfh.1_Missense_Mutation_p.R35Q|SMARCE1_uc010wfi.1_Missense_Mutation_p.R87Q|SMARCE1_uc010wfj.1_Missense_Mutation_p.R87Q	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	105					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				AGTGAGATCTCGCCACATGCC	0.408000														477			41		0	0	0.870114	0	0
COL13A1	1305	broad.mit.edu	37	10	71683572	71683572	+	Silent	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:71683572C>T	uc001jql.3	+	22	1748	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	COL13A1_uc021prz.1_Silent_p.V382V|COL13A1_uc021psa.1_Silent_p.V347V|COL13A1_uc021psb.1_Silent_p.V353V|COL13A1_uc001jqk.2_Silent_p.V382V|COL13A1_uc021psc.1_Silent_p.V385V|COL13A1_uc021psd.1_Silent_p.V382V|COL13A1_uc010qjf.2_Silent_p.V347V|COL13A1_uc021pse.1_Silent_p.V353V|COL13A1_uc021psf.1_Silent_p.V404V|COL13A1_uc021psg.1_Silent_p.V382V|COL13A1_uc021psh.1_Silent_p.V385V	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	404	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCAGGTGTCGATGGCCAGG	0.592000														101			6		0	0	0.278610	0	0
ENAM	10117	broad.mit.edu	37	4	71510452	71510452	+	Silent	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71510452A>G	uc011caw.1	+	8	3590	c.3309A>G	c.(3307-3309)gaA>gaG	p.E1103E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1103					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACTGAGGAACAATTTAAGA	0.428000														419			42		0	0	0.847076	0	0
PTPRD	5789	broad.mit.edu	37	9	8492935	8492935	+	Silent	SNP	G	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:8492935G>A	uc003zkk.3	-	26	3137	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	798	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTGACGGTGAGGGAGTAGG	0.493000										TSP Lung(15;0.13)				629			75		0	0	0.870114	0	0
V_alpha_immunoglobulin	0	broad.mit.edu	37	14	22676006	22676006	+	Silent	SNP	C	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:22676006C>A	uc001wdk.2	+	1	330	c.318C>A	c.(316-318)atC>atA	p.I106I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 34, partial cds, clone: SEB 406.																		ATGCAGGCATCTACCTCTGTG	0.517000														393			40		3.43241e-23	3.93067e-23	0.847076	1	0
ABCA11P	79963	broad.mit.edu	37	4	435583	435583	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:435583T>G	uc003gaf.4	-	2	2995	c.2769A>C	c.(2767-2769)aaA>aaC	p.K923N	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.K891N|ABCA11P_uc010ibe.3_Missense_Mutation_p.K879N	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		ACGTGTAGGGTTTCTCTCCAG	0.383000														178			8		0	0	0.278610	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:1266085C>G	uc001lta.3	+	30	8034	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|P -> A (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000														245			5		0	0	0.278610	0	0
ATPAF1	64756	broad.mit.edu	37	1	47123857	47123857	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:47123857A>T	uc001cqh.3	-	3	536	c.431T>A	c.(430-432)cTc>cAc	p.L144H	ATPAF1_uc009vyk.3_5'UTR|ATPAF1_uc010omg.2_Missense_Mutation_p.L56H|ATPAF1_uc001cqi.3_Missense_Mutation_p.L144H	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GATTGAACTGAGAGTCTTGAA	0.323000														187			17		0	0	0.520397	0	0
MYT1	4661	broad.mit.edu	37	20	62839374	62839374	+	Silent	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:62839374A>G	uc002yii.3	+	6	1189	c.825A>G	c.(823-825)gaA>gaG	p.E275E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	275	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D274_E275delDE(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggatgaagaagaggaag	0.572000														96			4		0	0	0.184627	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														536			24		0	0	0.717897	0	0
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	T	T	rs115035120	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:103124188C>T	uc022ajr.1	-	61	10253	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RELN_uc022ajq.1_Missense_Mutation_p.V3365I|RELN_uc010liz.3_Missense_Mutation_p.V3365I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3365					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552000														827			50		0	0	0.870114	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					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)			TTCTTCACATTTGTAGGGTCT	0.453000														358			8		0	0	0.335167	0	0
IRF7	3665	broad.mit.edu	37	11	613476	613476	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:613476C>T	uc001lqg.3	-	6	1416	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	IRF7_uc009ycb.3_Missense_Mutation_p.A217T|IRF7_uc010qwf.2_Missense_Mutation_p.A322T|IRF7_uc001lqf.3_Missense_Mutation_p.A30T|IRF7_uc010qwg.2_Missense_Mutation_p.A30T|IRF7_uc001lqh.3_Missense_Mutation_p.A323T|IRF7_uc001lqi.3_Missense_Mutation_p.A294T|IRF7_uc010qwh.2_Missense_Mutation_p.A30T	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	323					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCTGTGGCCCGGACAGCT	0.672000														495			30		0	0	0.760397	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														172			15		0	0	0.557998	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:45848224G>T	uc001zvn.1	+	3		c.978G>T			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TGCAGATTTTGTTTAGCTTTT	0.318000														95			17		8.34094e-07	8.97282e-07	0.575678	1	0
NLRP5	126206	broad.mit.edu	37	19	56545008	56545008	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56545008A>C	uc002qmj.3	+	8	2548	c.2548A>C	c.(2548-2550)Aag>Cag	p.K850Q	NLRP5_uc002qmi.3_Missense_Mutation_p.K831Q	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	850						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACCCACCTGAAGGAAGAGGA	0.478000														834			78		0	0	0.870114	0	0
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	-	-	rs141981296	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:4772583_4772585delCCA	uc001alm.1	+	1	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_uc001aln.3_In_Frame_Del_p.T225del	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(2)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635													---	151	---	---	11	---					
TAS1R1	80835	broad.mit.edu	37	1	6638843	6638845	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:6638843_6638845delGCT	uc001ant.3	+	5	1821_1823	c.1725_1727delGCT	c.(1723-1728)acgctg>acg	p.L582del	TAS1R1_uc001anu.3_In_Frame_Del_p.L328del|TAS1R1_uc021ofp.1_In_Frame_Del_p.C392del|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	582					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCTAACACgctgctgctgctg	0.611													---	262	---	---	7	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													---	1077	---	---	20	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:12785492_12785493insT	uc009vnn.1	+	3	815_816	c.582_583insT	c.(580-585)tactgtfs	p.Y194fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.Y124fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													---	1183	---	---	7	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:26349533_26349535delCCT	uc001blf.3	+	0	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	137					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													---	448	---	---	12	---					
MAP7D1	55700	broad.mit.edu	37	1	36644054	36644055	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:36644054_36644055insC	uc001bzz.3	+	9	1959_1960	c.1743_1744insC	c.(1741-1746)gctcccfs	p.A581fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A549fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A544fs|MAP7D1_uc001cac.3_Frame_Shift_Ins_p.A281fs|MAP7D1_uc001cad.3_Frame_Shift_Ins_p.A118fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	581	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CAGCCCCTGCTCCCCCGGTGAC	0.683													---	209	---	---	7	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:38078467_38078469delTGC	uc001cbl.2	-	7	1642_1644	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_uc009vvf.2_In_Frame_Del_p.223_224QQ>Q|RSPO1_uc001cbm.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_uc009vvg.2_In_Frame_Del_p.187_188QQ>Q	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													---	995	---	---	11	---					
MACF1	23499	broad.mit.edu	37	1	39788668	39788670	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:39788668_39788670delGGA	uc021olt.1	+	31	4291_4293	c.4239_4241delGGA	c.(4237-4242)ctggag>ctg	p.E1417del	MACF1_uc021ols.1_In_Frame_Del_p.E1417del|MACF1_uc001cdc.2_In_Frame_Del_p.E1417del|MACF1_uc001cda.1_In_Frame_Del_p.E1325del|MACF1_uc009vvq.1_In_Frame_Del_p.E474del|MACF1_uc001cdb.1_In_Frame_Del_p.E504del	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1417	Poly-Glu.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCGGCGTCTGGAGGAGGAGGAG	0.493													---	788	---	---	7	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:39799059_39799060insG	uc021olw.1	+	0	2119_2120	c.2119_2120insG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													---	461	---	---	7	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	CTG	rs35574083		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:55505552_55505553insCTG	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													---	9	---	---	7	---					
C1orf87	127795	broad.mit.edu	37	1	60503718	60503718	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:60503718delT	uc001czs.2	-	5	917	c.809delA	c.(808-810)aatfs	p.N270fs		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	270							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGCTTTATTTTGCTGTGG	0.373													---	285	---	---	13	---					
ANKRD13C	81573	broad.mit.edu	37	1	70819873	70819873	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:70819873delG	uc001dex.4	-	0	545	c.219delC	c.(217-219)cccfs	p.P73fs	ANKRD13C_uc009wbk.3_Frame_Shift_Del_p.P73fs|ANKRD13C_uc001dey.4_Frame_Shift_Del_p.P73fs|HHLA3_uc010oqp.2_5'Flank|HHLA3_uc001dfb.3_5'Flank|HHLA3_uc001dfa.3_5'Flank|HHLA3_uc001dfc.3_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	73					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCGGGGCGCCGGGGGGATTGG	0.637													---	1303	---	---	8	---					
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:74957824_74957826delCTT	uc001dge.2	+	24	2595_2597	c.2528_2530delCTT	c.(2527-2532)ccttct>cct	p.S847del	FPGT-TNNI3K_uc001dgf.2_In_Frame_Del_p.S746del	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	746						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCTCTCACCTTCTTCTTCTTC	0.473													---	1281	---	---	14	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:85736511delT	uc021opd.1	-	1	688	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	46	CARD.				T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(2)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								---	490	---	---	9	---					
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:103355065delT	uc001dum.3	-	58	4764	c.4446delA	c.(4444-4446)aaafs	p.K1482fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.K666fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.K1470fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.K1431fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.K1354fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													---	696	---	---	7	---					
SYCP1	6847	broad.mit.edu	37	1	115527420	115527421	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:115527420_115527421insA	uc001efr.3	+	29	2843_2844	c.2634_2635insA	c.(2632-2637)agtaaafs	p.S878fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.S878fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.S853fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	878					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAAGAAAGTAAAAAAAAGAG	0.262													---	566	---	---	7	---					
CCT3	7203	broad.mit.edu	37	1	156290648	156290648	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:156290648delT	uc001fol.2	-	6	822	c.591delA	c.(589-591)aaafs	p.K197fs	CCT3_uc010phj.2_Frame_Shift_Del_p.K151fs|CCT3_uc010phk.2_Frame_Shift_Del_p.K151fs|CCT3_uc001fon.2_Frame_Shift_Del_p.K159fs|CCT3_uc010phl.2_Frame_Shift_Del_p.K151fs	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	197					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCTTGCATATTTTTTTATGT	0.393													---	987	---	---	8	---					
CD1B	910	broad.mit.edu	37	1	158299661	158299661	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:158299661delT	uc001frx.3	-	2	696	c.588delA	c.(586-588)aaafs	p.K196fs	CD1B_uc001frw.3_Frame_Shift_Del_p.K196fs	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	196	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCAGATCTGCTTTTCCTGCAT	0.428													---	1036	---	---	7	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:161059028_161059030delAGC	uc001fxo.2	-	0	356_358	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	19					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													---	888	---	---	14	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:161254154_161254156delGGA	uc001gad.3	+	2	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	35								p.E35delE(2)|p.A30A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													---	573	---	---	9	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:167385016_167385018delCCA	uc001gec.3	+	16	2440_2442	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_uc001gee.3_In_Frame_Del_p.T761del|POU2F1_uc010plh.2_In_Frame_Del_p.T698del|POU2F1_uc001ged.3_In_Frame_Del_p.T736del|POU2F1_uc001gef.3_In_Frame_Del_p.T750del|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													---	1305	---	---	11	---					
PRG4	10216	broad.mit.edu	37	1	186273952	186273954	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:186273952_186273954delTCC	uc001gru.4	+	5	547_549	c.496_498delTCC	c.(496-498)tccdel	p.S177del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.S136del|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	177	Ser-rich.				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						AAATCAAGAGtcctcctcctcct	0.355													---	202	---	---	8	---					
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:202097525_202097527delCTG	uc001gxj.3	+	1	1350_1352	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	436	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													---	226	---	---	15	---					
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:230839055delA	uc001hty.4	-	4	1798	c.1290delT	c.(1288-1290)tttfs	p.F430fs	AGT_uc009xff.3_Frame_Shift_Del_p.F402fs	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTTCAAGCTCAAAAAAAATGC	0.562													---	504	---	---	8	---					
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:20482977_20482979delGCT	uc002rds.1	-	10	1467_1469	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_uc002rdt.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdr.2_In_Frame_Del_p.422_423AA>A|PUM2_uc010yjy.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdu.1_In_Frame_Del_p.483_484AA>A|PUM2_uc010yjz.1_In_Frame_Del_p.422_423AA>A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	483	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424													---	594	---	---	8	---					
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:26534413delC	uc002rhe.4	-	10	2183	c.2183delG	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGACCAACCCCCCCTGCC	0.612													---	821	---	---	10	---					
DHX57	90957	broad.mit.edu	37	2	39074185	39074185	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:39074185delA	uc002rrf.3	-	10	2294	c.2195delT	c.(2194-2196)ttgfs	p.L732fs	DHX57_uc002rrd.4_Frame_Shift_Del_p.L116fs|DHX57_uc002rre.3_Frame_Shift_Del_p.L165fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	732							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGCATCTTCCAAAAAAAATTG	0.363													---	270	---	---	8	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:54167139_54167140insG	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													---	916	---	---	11	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:61575023_61575025delTGG	uc002sbe.3	-	14	2287_2289	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	755					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													---	470	---	---	9	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:96919781_96919783delTGC	uc002svq.3	-	3	756_758	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_uc002svr.3_In_Frame_Del_p.Q160del	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	160					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													---	741	---	---	12	---					
SLC9A2	6549	broad.mit.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:103324746delC	uc002tca.3	+	11	2379	c.2237delC	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATGCCCAGCACCCCCCCAACA	0.527													---	1321	---	---	8	---					
RBM43	375287	broad.mit.edu	37	2	152112047	152112048	+	Splice_Site	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:152112047_152112048insT	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCTT	0.287													---	483	---	---	7	---					
CDCA7	83879	broad.mit.edu	37	2	174229648	174229650	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:174229648_174229650delGGA	uc002uic.1	+	5	956_958	c.825_827delGGA	c.(823-828)atggag>atg	p.E281del	CDCA7_uc002uid.1_In_Frame_Del_p.E202del|CDCA7_uc010zej.1_In_Frame_Del_p.E237del|CDCA7_uc010zek.1_In_Frame_Del_p.E160del	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	202	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTCTACCCATGGAGGAGGAGGAG	0.537													---	479	---	---	7	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	-	-	rs140194798		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:196788374delT	uc002utj.4	-	22	3871	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	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													---	462	---	---	13	---					
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:202352352delT	uc002uyf.3	-	15	5498	c.5446delA	c.(5446-5448)attfs	p.I1816fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.I619fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													---	374	---	---	7	---					
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:220496799_220496801delGAA	uc002vmo.4	+	6	1211_1213	c.1002_1004delGAA	c.(1000-1005)aggaag>agg	p.K340del	SLC4A3_uc002vmn.2_In_Frame_Del_p.K340del|SLC4A3_uc002vmp.4_In_Frame_Del_p.K313del|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	313					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.650													---	424	---	---	7	---					
SLC4A3	6508	broad.mit.edu	37	2	220502413	220502413	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:220502413delC	uc002vmo.4	+	16	2936	c.2727delC	c.(2725-2727)ggcfs	p.G909fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.G882fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.G432fs|SLC4A3_uc010fwn.1_Frame_Shift_Del_p.G391fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	882	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCGAGGGCCCCCCCAGCC	0.642													---	438	---	---	7	---					
COPS7B	64708	broad.mit.edu	37	2	232672287	232672288	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:232672287_232672288insA	uc002vsh.1	+	7	883_884	c.780_781insA	c.(778-783)ctcacgfs	p.L260fs	COPS7B_uc010fxy.1_Frame_Shift_Ins_p.H209fs|COPS7B_uc002vsg.1_Frame_Shift_Ins_p.H243fs|COPS7B_uc002vsi.1_Frame_Shift_Ins_p.H136fs|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Frame_Shift_Ins_p.H136fs			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	0					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGTCCCCCTCACGCTGAGCAG	0.614													---	97	---	---	15	---					
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:45636543_45636545delCAG	uc003coq.3	+	0	221_223	c.172_174delCAG	c.(172-174)cagdel	p.Q63del		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	63	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	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)		AATCCACCTCCAGCAGCAGCAGC	0.626													---	300	---	---	8	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:71247357_71247359delTGC	uc003dol.3	-	1	497_499	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_uc003dom.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doo.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dop.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc021xao.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doq.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dos.3_In_Frame_Del_p.58_59QQ>Q	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	58	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								---	682	---	---	12	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													---	306	---	---	12	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	1398	---	---	20	---					
PARP14	54625	broad.mit.edu	37	3	122433231	122433232	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:122433231_122433232insA	uc003efq.4	+	11	4014_4015	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs	PARP14_uc021xdc.1_Frame_Shift_Ins_p.E1183fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Ins_p.E1036fs|PARP14_uc003efs.1_Frame_Shift_Ins_p.E1036fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1319	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421													---	245	---	---	16	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:149260194_149260196delCTG	uc003exf.3	-	3	1037_1039	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_uc003exe.3_In_Frame_Del_p.Q233del|WWTR1_uc021xfm.1_In_Frame_Del_p.Q233del|WWTR1_uc003exh.3_In_Frame_Del_p.Q233del	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								---	415	---	---	12	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:150877786delC	uc003eyp.3	+	6	1134	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Frame_Shift_Del_p.G335fs|MED12L_uc003eyo.3_Frame_Shift_Del_p.G335fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	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													---	1121	---	---	8	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:184039744_184039746delGAA	uc003fnp.3	+	9	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_uc003fno.2_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnt.3_In_Frame_Del_p.E176del|EIF4G1_uc010hxy.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnq.3_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.3_In_Frame_Del_p.E301del|EIF4G1_uc003fns.3_In_Frame_Del_p.E425del|EIF4G1_uc003fnv.4_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.3_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.3_In_Frame_Del_p.E269del	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													---	585	---	---	12	---					
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	A	A	rs150885877	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:185212517_185212518insA	uc003fpj.2	-	3	563_564	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													---	792	---	---	7	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:661763_661765delAGG	uc003gap.3	+	20	2524_2526	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_uc003gao.4_In_Frame_Del_p.E828del|PDE6B_uc011buy.2_In_Frame_Del_p.E549del|PDE6B_uc011buz.2_In_Frame_Del_p.E260del	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	828					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													---	929	---	---	11	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	815	---	---	9	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	683	---	---	16	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:46060358delA	uc003gxb.3	-	6	944	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													---	336	---	---	7	---					
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	-	-	rs141105019		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:69202891_69202893delTCC	uc003hdx.3	-	3	1088_1090	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_uc003hdy.3_In_Frame_Del_p.245_246EE>E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	245	Glu-rich.							p.E245E(2)|p.E246E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473													---	301	---	---	8	---					
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:83745800delT	uc003hnh.3	-	24	3499	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_uc003hnd.3_Frame_Shift_Del_p.I276fs|SEC31A_uc003hne.3_Frame_Shift_Del_p.I856fs|SEC31A_uc011ccl.2_Frame_Shift_Del_p.I1053fs|SEC31A_uc003hnl.3_Frame_Shift_Del_p.I954fs|SEC31A_uc003hng.3_Frame_Shift_Del_p.I1092fs|SEC31A_uc011ccm.2_Frame_Shift_Del_p.I1087fs|SEC31A_uc003hni.3_Frame_Shift_Del_p.I993fs|SEC31A_uc003hnk.3_Frame_Shift_Del_p.I1068fs|SEC31A_uc003hnf.3_Frame_Shift_Del_p.I1107fs|SEC31A_uc011ccn.2_Frame_Shift_Del_p.I1092fs|SEC31A_uc003hnm.3_Frame_Shift_Del_p.I1107fs	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1107	Interaction with PDCD6.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388													---	263	---	---	8	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:88986559delA	uc003hre.3	+	10	2239	c.2152delA	c.(2152-2154)aaafs	p.K718fs	PKD2_uc011cdf.2_Frame_Shift_Del_p.K136fs|PKD2_uc011cdg.2_Frame_Shift_Del_p.K44fs|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	718	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													---	669	---	---	11	---					
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	-	-	rs146939312		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:105412094_105412096delGAG	uc003hxg.3	-	0	372_374	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	119	Poly-Ser.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.S120A(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606													---	589	---	---	12	---					
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:110756541delT	uc003hzv.3	+	2	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393													---	494	---	---	11	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:123302211delA	uc003ieo.3	+	3	469	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Del_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Del_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													---	385	---	---	10	---					
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:128564917delA	uc003ifk.2	+	1	491	c.388delA	c.(388-390)aaafs	p.K130fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	130										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358													---	331	---	---	7	---					
PCDH10	57575	broad.mit.edu	37	4	134072600	134072601	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:134072600_134072601insC	uc003iha.3	+	0	2131_2132	c.1305_1306insC	c.(1303-1308)gctcggfs	p.A435fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.A435fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A435A(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGTAGTGGCTCGGGACCGGGG	0.594													---	1620	---	---	8	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:134073569_134073571delCTG	uc003iha.3	+	0	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del	PCDH10_uc003igz.3_In_Frame_Del_p.C763del	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	763	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													---	375	---	---	8	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:140810639_140810641delGCT	uc021xsg.1	-	1	2701_2703	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	646	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)					GGAGGTGGCGgctgctgctgctg	0.586													---	350	---	---	18	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													---	463	---	---	20	---					
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:146823381_146823383delGTG	uc003ikn.3	-	1	1076_1078	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_uc003ikm.3_In_Frame_Del_p.P343del|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512													---	277	---	---	11	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:159091487_159091489delGCT	uc003ipq.4	-	2	1328_1330	c.921_923delAGC	c.(919-924)gcagcg>gcg	p.307_308AA>A	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													---	296	---	---	11	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:174253277_174253279delTCC	uc011ckc.1	-	3	702_704	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_uc003ita.3_In_Frame_Del_p.194_195EE>E|HMGB2_uc003itb.2_In_Frame_Del_p.194_195EE>E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	194	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													---	465	---	---	8	---					
TRIML2	205860	broad.mit.edu	37	4	189012906	189012906	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:189012906delT	uc011cle.1	-	7	1232	c.1010delA	c.(1009-1011)aagfs	p.K337fs	TRIML2_uc003izj.1_Frame_Shift_Del_p.K90fs|TRIML2_uc003izk.1_Frame_Shift_Del_p.K70fs|TRIML2_uc003izl.2_Frame_Shift_Del_p.K262fs	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	262	B30.2/SPRY.						ligase activity	p.T337T(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCTGGTTGCCTTTTCCACGTC	0.602													---	1828	---	---	7	---					
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:13919383delT	uc003jfd.2	-	6	919	c.877delA	c.(877-879)agafs	p.R293fs	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome				---	1508	---	---	8	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	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													---	957	---	---	11	---					
WDR70	55100	broad.mit.edu	37	5	37396622	37396624	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:37396622_37396624delGAA	uc003jkv.3	+	4	500_502	c.442_444delGAA	c.(442-444)gaadel	p.E152del	WDR70_uc010iva.1_In_Frame_Del_p.E152del	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	152	Glu-rich.									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)			ACCTCTTAATgaagaagaagaag	0.394													---	226	---	---	8	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	520	---	---	8	---					
IPO11	51194	broad.mit.edu	37	5	61847114	61847115	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:61847114_61847115insT	uc011cqr.2	+	25	2661_2662	c.2531_2532insT	c.(2530-2532)agtfs	p.S844fs	IPO11_uc003jtc.3_Frame_Shift_Ins_p.S804fs|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	804						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAAAACACTAGTTTTTTTTCTT	0.302													---	695	---	---	11	---					
CMYA5	202333	broad.mit.edu	37	5	79041149	79041151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:79041149_79041151delGAA	uc003kgc.3	+	3	10911_10913	c.10839_10841delGAA	c.(10837-10842)gtgaag>gtg	p.K3617del		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3617	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGAGGAAGTGAAGAAGAAGAAG	0.448													---	263	---	---	7	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:79372774_79372776delTGA	uc021yaw.1	+	15	2180_2182	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	668					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													---	1642	---	---	16	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:124079813_124079815delCTC	uc003ktq.1	-	0	1051_1053	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													---	1393	---	---	12	---					
TCERG1	10915	broad.mit.edu	37	5	145886723	145886723	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:145886723delA	uc003lob.3	+	18	2903	c.2863delA	c.(2863-2865)aaafs	p.K955fs	TCERG1_uc003loc.3_Frame_Shift_Del_p.K934fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	955					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACTTACCAAAAAAAAGAG	0.373													---	555	---	---	7	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:149216457_149216459delGGA	uc003lrc.3	+	7	2530_2532	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.E818del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.E779del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.E754del|PPARGC1B_uc003lre.1_In_Frame_Del_p.E797del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.E797del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	818	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.E818G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606													---	560	---	---	11	---					
CSF1R	1436	broad.mit.edu	37	5	149447806	149447808	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:149447806_149447808delAGC	uc003lrl.3	-	9	1791_1793	c.1596_1598delGCT	c.(1594-1599)ctgctc>ctc	p.532_533LL>L	CSF1R_uc011dcd.2_In_Frame_Del_p.384_385LL>L|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_In_Frame_Del_p.532_533LL>L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	532					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	Tagcagcaggagcagcagcagca	0.596													---	562	---	---	11	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:172578611delT	uc003mci.4	+	2	324	c.220delT	c.(220-222)tttfs	p.F74fs	BNIP1_uc003mcj.4_Intron|BNIP1_uc003mck.4_Frame_Shift_Del_p.F74fs|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Intron	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													---	338	---	---	23	---					
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	-	-	rs76969408		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:176863219_176863221delGAA	uc021yit.1	+	11	1363_1365	c.1203_1205delGAA	c.(1201-1206)gtgaag>gtg	p.K402del	GRK6_uc003mgq.2_In_Frame_Del_p.K402del|GRK6_uc021yiu.1_In_Frame_Del_p.K402del|GRK6_uc003mgs.1_In_Frame_Del_p.K372del	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	402	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.K402delK(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645													---	683	---	---	14	---					
CDSN	1041	broad.mit.edu	37	6	31084620	31084622	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:31084620_31084622delCCA	uc003nsm.2	-	1	826_828	c.770_772delTGG	c.(769-774)gtggac>gac	p.V257del	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	257	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGTGCTGGTCCACCACCACCAC	0.635													---	302	---	---	10	---					
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:31597456_31597457insC	uc003nvb.4	+	13	2337_2338	c.2088_2089insC	c.(2086-2091)ccacccfs	p.P696fs	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Frame_Shift_Ins_p.P696fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	696	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649													---	239	---	---	8	---					
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:31975223_31975224insT	uc021yve.1	+	4	1400_1401	c.838_839insT	c.(838-840)gttfs	p.V280fs				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	276							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													---	1005	---	---	8	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:35478775_35478777delTCC	uc003okv.4	-	4	372_374	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_uc003okw.4_In_Frame_Del_p.67_68EE>E|TULP1_uc021yyx.1_In_Frame_Del_p.120_121EE>E|TULP1_uc021yyy.1_In_Frame_Del_p.120_121EE>E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	120	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.E119K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													---	617	---	---	7	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:41621169_41621171delCTG	uc003oqq.4	+	4	804_806	c.597_599delCTG	c.(595-600)ctctgc>ctc	p.C204del	MDFI_uc010jxn.3_In_Frame_Del_p.C204del	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	204	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													---	723	---	---	26	---					
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:44269188_44269189insT	uc010jza.1	-	19	2614_2615	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	871					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGCTCCTGAGTTTTCTTTGCA	0.584													---	815	---	---	8	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:89891719_89891721delAAG	uc003pna.2	-	7	1307_1309	c.852_854delCTT	c.(850-855)ttcttg>ttg	p.F284del	GABRR1_uc011dzv.1_In_Frame_Del_p.F261del	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													---	662	---	---	9	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:111983042delT	uc003pvj.3	-	12	1854	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_uc003pvi.3_Frame_Shift_Del_p.K450fs|FYN_uc003pvk.3_Frame_Shift_Del_p.K505fs|FYN_uc003pvh.3_Frame_Shift_Del_p.K502fs	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	505	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													---	1407	---	---	10	---					
WISP3	8838	broad.mit.edu	37	6	112389433	112389434	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:112389433_112389434insA	uc003pvo.3	+	3	805_806	c.669_670insA	c.(667-672)tggaaafs	p.W223fs	WISP3_uc003pvm.3_Frame_Shift_Ins_p.W205fs|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	205	TSP type-1.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CACTTATTTGGAAAAAAAAATG	0.332													---	185	---	---	9	---					
NCOA7	135112	broad.mit.edu	37	6	126176317	126176317	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:126176317delA	uc003qai.3	+	2	571	c.202delA	c.(202-204)aaafs	p.K68fs	NCOA7_uc010kes.3_Frame_Shift_Del_p.K68fs|NCOA7_uc003qae.4_Frame_Shift_Del_p.K68fs|NCOA7_uc010ket.3_Intron|NCOA7_uc003qah.3_Frame_Shift_Del_p.K68fs|NCOA7_uc003qaf.3_Frame_Shift_Del_p.K68fs|NCOA7_uc003qag.3_Frame_Shift_Del_p.K68fs|NCOA7_uc003qaj.3_Frame_Shift_Del_p.K68fs	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	68					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GACTGATGAGAAAAAAAAGAG	0.358													---	759	---	---	7	---					
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:129959602_129959603insT	uc003qbr.3	-	2	577_578	c.488_489insA	c.(487-489)aacfs	p.N163fs	ARHGAP18_uc011ebw.2_Frame_Shift_Ins_p.N163fs|ARHGAP18_uc021zfe.1_Frame_Shift_Ins_p.N160fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	163					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421													---	1045	---	---	8	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:131191073_131191075delCTG	uc003qch.2	-	14	2417_2419	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_In_Frame_Del_p.675_676SS>S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													---	670	---	---	10	---					
AKAP7	9465	broad.mit.edu	37	6	131481276	131481276	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:131481276delA	uc003qck.3	+	2	307	c.163delA	c.(163-165)aaafs	p.K55fs		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0	RII-binding.				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAGAAGAGGAAAAAAAAGAG	0.308													---	355	---	---	7	---					
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:158508009delC	uc003qqx.2	+	22	3437	c.3331delC	c.(3331-3333)cccfs	p.P1111fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.P1111fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.P874fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.P728fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.P454fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1111	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637													---	421	---	---	7	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	391	---	---	9	---					
CPVL	54504	broad.mit.edu	37	7	29070262	29070262	+	Frame_Shift_Del	DEL	T	-	-	rs5883182		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:29070262delT	uc003szv.3	-	11	1370	c.1251delA	c.(1249-1251)aaafs	p.K417fs	CPVL_uc003szw.3_Frame_Shift_Del_p.K417fs|CPVL_uc003szx.3_Frame_Shift_Del_p.K417fs	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	417					proteolysis		protein binding|serine-type carboxypeptidase activity	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTTCCAAACTTTTTTTTCTG	0.507													---	1189	---	---	8	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:39379288_39379290delCAG	uc003thb.2	+	5	702_704	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_uc022acb.1_In_Frame_Del_p.Q196del|POU6F2_uc010kxo.3_In_Frame_Del_p.Q188del	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													---	176	---	---	10	---					
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	-	-	rs13928	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:44153778_44153780delAGA	uc003tkb.3	+	20	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_uc003tkc.4_In_Frame_Del_p.K708del|AEBP1_uc003tkd.3_In_Frame_Del_p.K383del	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													---	349	---	---	8	---					
EIF4H	7458	broad.mit.edu	37	7	73609132	73609132	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:73609132delC	uc003uad.1	+	5	539	c.531delC	c.(529-531)ggcfs	p.G177fs	EIF4H_uc003uae.1_Frame_Shift_Del_p.G157fs	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	177					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGCGAACAGGCCCCCCCATGG	0.572													---	687	---	---	8	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	1994	---	---	15	---					
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610356	76610356	+	RNA	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:76610356delC	uc011kgn.1	+	0		c.218delC			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCCCCAGCACCCCCCCCACA	0.647													---	666	---	---	12	---					
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:77569581delT	uc003ugs.4	+	12	1828	c.1702delT	c.(1702-1704)tttfs	p.F568fs	PHTF2_uc003ugp.3_Frame_Shift_Del_p.F530fs|PHTF2_uc010ldv.3_Frame_Shift_Del_p.F530fs|PHTF2_uc003ugq.4_Frame_Shift_Del_p.F530fs|PHTF2_uc003ugt.4_Frame_Shift_Del_p.F534fs|PHTF2_uc003ugu.4_Frame_Shift_Del_p.F530fs|PHTF2_uc022agp.1_Frame_Shift_Del_p.F568fs|PHTF2_uc010ldw.2_Frame_Shift_Del_p.F350fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303													---	554	---	---	8	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:91671392_91671393delAG	uc003ulg.3	+	18	5175_5176	c.4950_4951delAG	c.(4948-4953)tcagagfs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								---	284	---	---	9	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:91752494delT	uc003ulm.4	-	6	1188	c.1026delA	c.(1024-1026)aaafs	p.K342fs	CYP51A1_uc011khn.2_Frame_Shift_Del_p.K237fs|CYP51A1_uc003uln.4_Frame_Shift_Del_p.K279fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													---	705	---	---	10	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:100281686_100281688delGCT	uc003uwg.1	-	14	2832_2834	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	608	Gln-rich.|Poly-Gln.									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)					AATGCCGTGAGCTGCTGCTGCTG	0.690													---	168	---	---	9	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	-	-	rs142340746		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:100283635_100283637delTCC	uc003uwg.1	-	8	2023_2025	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	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													---	431	---	---	10	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:100479332delG	uc003uwy.2	+	3	571	c.304delG	c.(304-306)gggfs	p.G102fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.G102fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.G102fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.G102fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	102					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607													---	375	---	---	8	---					
KCND2	3751	broad.mit.edu	37	7	120372975	120372975	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:120372975delA	uc003vjj.1	+	1	2099	c.1134delA	c.(1132-1134)ccafs	p.P378fs		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	378					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACATGGTGCCAAAAACCATAG	0.373													---	496	---	---	7	---					
LUC7L2	51631	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:139094365_139094366delAG	uc011kqt.2	+	7	1176_1177	c.942_943delAG	c.(940-945)gaagagfs	p.E314fs	LUC7L2_uc011kqs.2_Frame_Shift_Del_p.E245fs|LUC7L2_uc003vuy.3_Frame_Shift_Del_p.E247fs|LUC7L2_uc003vux.3_Frame_Shift_Del_p.E248fs|LUC7L2_uc003vuz.1_Frame_Shift_Del_p.E195fs|LUC7L2_uc003vva.3_Frame_Shift_Del_p.E195fs	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	248	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AACGAAGAGAAGAGAGAGAGAG	0.391													---	158	---	---	15	---					
BRAF	673	broad.mit.edu	37	7	140434441	140434441	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:140434441delT	uc003vwc.4	-	17	2318	c.2257delA	c.(2257-2259)acafs	p.T753fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	753					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGATGGGTGTTTTTGGAGAA	0.443		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				---	1789	---	---	8	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:155531073_155531074delCA	uc010lqk.1	+	10	2081_2082	c.1713_1714delCA	c.(1711-1716)cccacafs	p.P571fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	571	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													---	419	---	---	10	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	-	-	rs137989738		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:12957611_12957613delGCT	uc003wwm.2	-	8	2677_2679	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_uc003wwk.1_In_Frame_Del_p.S308del|DLC1_uc003wwl.1_In_Frame_Del_p.S342del|DLC1_uc011kxx.1_In_Frame_Del_p.S234del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.S744T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													---	416	---	---	13	---					
MTUS1	57509	broad.mit.edu	37	8	17612188	17612192	+	Frame_Shift_Del	DEL	TGTCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:17612188_17612192delTGTCT	uc003wxv.3	-	1	1599_1603	c.1125_1129delAGACA	c.(1123-1131)gaagacacafs	p.E375fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Del_p.E375fs|MTUS1_uc010lsz.3_Frame_Shift_Del_p.E375fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	375						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCATTTGTGTGTCTTCAGTCTCAG	0.444													---	259	---	---	18	---					
C8orf80	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:27888776delT	uc003xgm.4	-	14	2035	c.1892delA	c.(1891-1893)aatfs	p.N631fs		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	631						nucleus	GTP binding|GTPase activity	p.N631H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GATCAGGAAATTTTTTTTGCA	0.453													---	984	---	---	11	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:52359596delT	uc003xqu.4	-	11	1594	c.1493delA	c.(1492-1494)aagfs	p.K498fs		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													---	1221	---	---	7	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:59750796_59750798delCTT	uc003xtw.1	-	4	987_989	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													---	782	---	---	9	---					
YTHDF3	253943	broad.mit.edu	37	8	64099487	64099487	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:64099487delA	uc003xuy.3	+	4	1231	c.915delA	c.(913-915)ccafs	p.P305fs	YTHDF3_uc010lys.3_Frame_Shift_Del_p.P250fs|YTHDF3_uc003xuz.3_Frame_Shift_Del_p.P250fs|YTHDF3_uc003xva.3_Frame_Shift_Del_p.P250fs|YTHDF3_uc011len.2_Frame_Shift_Del_p.P250fs	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	306												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGCCTCAGCCATTAATTCAAC	0.512													---	199	---	---	16	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:81733778delT	uc003yby.2	-	1	284	c.52delA	c.(52-54)atgfs	p.M18fs		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													---	1416	---	---	8	---					
CSMD3	114788	broad.mit.edu	37	8	114326968	114326968	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:114326968delC	uc003ynu.3	-	1	392	c.233delG	c.(232-234)agcfs	p.S78fs	CSMD3_uc003ynt.3_Frame_Shift_Del_p.S38fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.S78fs|CSMD3_uc010mcx.1_Frame_Shift_Del_p.S78fs|CSMD3_uc003ynx.4_Frame_Shift_Del_p.S78fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	78	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCAGGGCTTTCTATAGT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	747	---	---	10	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:124368685delA	uc003yqh.4	-	12	1698	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.F321fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.F530fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													---	210	---	---	11	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	-	-	rs61752959	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	540	---	---	11	---					
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:145000951_145000953delCCT	uc003zaf.1	-	30	4625	c.4455_splice	c.e30+1	p.E1485_splice	PLEC_uc003zab.1_Splice_Site_p.E1348_splice|PLEC_uc003zac.1_Splice_Site_p.E1352_splice|PLEC_uc003zad.2_Splice_Site_p.E1348_splice|PLEC_uc003zae.1_Splice_Site_p.E1316_splice|PLEC_uc003zag.1_Splice_Site_p.E1326_splice|PLEC_uc003zah.2_Splice_Site_p.E1334_splice|PLEC_uc003zaj.2_Splice_Site_p.E1375_splice	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1485	Central fibrous rod domain.				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						ACGGGCTGTACCTCCTCCTCCTC	0.621													---	803	---	---	7	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:117406_117407insG	uc003zfz.3	-	0	1011_1012	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													---	311	---	---	8	---					
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:2837296delT	uc003zhp.1	-	2	284	c.188delA	c.(187-189)aagfs	p.K63fs	KIAA0020_uc003zhq.1_Frame_Shift_Del_p.K63fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													---	1067	---	---	7	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:5304560_5304561insA	uc003zja.1	-	0	20_21	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													---	692	---	---	7	---					
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:20414278_20414280delCTG	uc003zoe.2	-	4	823_825	c.564_566delCAG	c.(562-567)agcagt>agt	p.188_189SS>S	MLLT3_uc011lne.1_In_Frame_Del_p.156_157SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.185_186SS>S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(2)		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)		ACTGGTActactgctgctgctgc	0.507			T	MLL	ALL								---	672	---	---	13	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	172	---	---	11	---					
APBA1	320	broad.mit.edu	37	9	72071204	72071204	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:72071204delT	uc004ahh.2	-	7	2023	c.1747delA	c.(1747-1749)aggfs	p.R583fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	583	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTGTACTGCCTTTTCCCATCC	0.542													---	1483	---	---	8	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:102590616_102590618delCAC	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								---	292	---	---	16	---					
AKNA	80709	broad.mit.edu	37	9	117122000	117122002	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:117122000_117122002delTCC	uc004biq.3	-	9	2499_2501	c.2364_2366delGGA	c.(2362-2367)gaggaa>gaa	p.788_789EE>E	AKNA_uc004bin.3_In_Frame_Del_p.35_36EE>E|AKNA_uc004bio.3_In_Frame_Del_p.248_249EE>E|AKNA_uc004bip.3_In_Frame_Del_p.707_708EE>E|AKNA_uc004bir.3_In_Frame_Del_p.788_789EE>E|AKNA_uc004bis.3_In_Frame_Del_p.788_789EE>E|AKNA_uc010mve.2_In_Frame_Del_p.669_670EE>E|AKNA_uc004biu.1_In_Frame_Del_p.529_530EE>E|AKNA_uc004biv.1_In_Frame_Del_p.788_789EE>E	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	788	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCccccctcttcctcctcctcct	0.596													---	357	---	---	7	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:135941982delG	uc010naa.1	+	4	629	c.613delG	c.(613-615)gggfs	p.G205fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	202					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGCGGCCTTCGGGGGGGACCC	0.642													---	1312	---	---	7	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:139390945_139390947delGTG	uc004chz.3	-	33	7244_7246	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2415	Poly-Pro.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)|p.P2414L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			---	342	---	---	7	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:140056884_140056886delGAG	uc004clk.3	+	12	2110_2112	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_uc004cli.1_In_Frame_Del_p.E273del|GRIN1_uc004clj.1_In_Frame_Del_p.E595del|GRIN1_uc004cln.3_In_Frame_Del_p.E619del|GRIN1_uc004clo.3_In_Frame_Del_p.E619del|GRIN1_uc004clm.3_In_Frame_Del_p.E598del|GRIN1_uc004cll.3_In_Frame_Del_p.E598del	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													---	284	---	---	9	---					
DIP2C	22982	broad.mit.edu	37	10	412274	412275	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:412274_412275delCA	uc001ifp.3	-	18	2298_2299	c.2208_2209delTG	c.(2206-2211)tgtgcafs	p.C736fs	DIP2C_uc009xhi.1_Frame_Shift_Del_p.C122fs|DIP2C_uc010pzz.1_Frame_Shift_Del_p.C57fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	736						nucleus	catalytic activity|transcription factor binding	p.A737fs*15(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGCAACTGCACACACACACA	0.540													---	281	---	---	8	---					
MTPAP	55149	broad.mit.edu	37	10	30625769	30625769	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:30625769delA	uc001iva.4	-	3	806	c.743delT	c.(742-744)ttgfs	p.L248fs	MTPAP_uc001ivb.4_Frame_Shift_Del_p.L378fs	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	248					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity	p.F247C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATCTAGATCCAAAAACATGTC	0.398													---	1566	---	---	7	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:46969401_46969403delCAG	uc001jea.3	-	1	211_213	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_uc001jdz.2_In_Frame_Del_p.L21del|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													---	291	---	---	7	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					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	p.A1445A(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	582	---	---	11	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	691	---	---	8	---					
RTKN2	219790	broad.mit.edu	37	10	63958149	63958149	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:63958149delT	uc001jlw.3	-	11	1445	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_uc009xpf.1_Frame_Shift_Del_p.I252fs|RTKN2_uc001jlv.3_Frame_Shift_Del_p.I104fs	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	450					signal transduction	intracellular		p.I450fs*67(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTCTCTTCAATTTTTTTTTGT	0.333													---	318	---	---	9	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:64952699delT	uc001jmn.3	-	16	6376	c.6076_splice	c.e16+1	p.E2026_splice	JMJD1C_uc001jml.3_Splice_Site_p.E1789_splice|JMJD1C_uc001jmm.3_Splice_Site_p.E1738_splice|JMJD1C_uc010qiq.2_Splice_Site_p.E1844_splice|JMJD1C_uc009xpi.3_Splice_Site_p.E1844_splice|JMJD1C_uc009xpj.2_Splice_Site|JMJD1C_uc001jmo.3_5'Flank|JMJD1C_uc009xpk.1_Splice_Site	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2026					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373													---	537	---	---	9	---					
ZNF518A	9849	broad.mit.edu	37	10	97918855	97918856	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:97918855_97918856insA	uc001klp.3	+	5	3633_3634	c.2776_2777insA	c.(2776-2778)caafs	p.Q926fs	ZNF518A_uc001klo.1_Frame_Shift_Ins_p.Q396fs|ZNF518A_uc001klq.3_Frame_Shift_Ins_p.Q926fs|ZNF518A_uc001klr.3_Frame_Shift_Ins_p.Q926fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATTCAGAACAAAAAAAAACT	0.347													---	224	---	---	10	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	912	---	---	7	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:102763415_102763417delCCT	uc001ksj.3	+	2	730_732	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_uc010qpw.2_In_Frame_Del_p.S197del|LZTS2_uc001ksk.3_In_Frame_Del_p.S197del|LZTS2_uc001ksl.3_In_Frame_Del_p.S197del|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	197	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													---	1308	---	---	26	---					
SMPD1	6609	broad.mit.edu	37	11	6412853	6412854	+	Frame_Shift_Ins	INS	-	C	C	rs74053349	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:6412853_6412854insC	uc001mcw.3	+	1	743_744	c.558_559insC	c.(556-561)ccgcccfs	p.P186fs	SMPD1_uc021qcz.1_Frame_Shift_Ins_p.P186fs|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Frame_Shift_Ins_p.P185fs|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	184					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TGCCGAAGCCGCCCCCCAAACC	0.624													---	104	---	---	9	---					
SMPD1	6609	broad.mit.edu	37	11	6412868	6412870	+	In_Frame_Del	DEL	TAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:6412868_6412870delTAG	uc001mcw.3	+	1	758_760	c.573_575delTAG	c.(571-576)cctagc>ccc	p.S192del	SMPD1_uc021qcz.1_In_Frame_Del_p.S192del|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_In_Frame_Del_p.S191del|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	190					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.S192fs*1(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCAAACCCCCTAGCCCCCCAGCC	0.626													---	103	---	---	7	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:6432090_6432092delTCC	uc001mdb.1	-	1	586_588	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_uc001mdc.1_In_Frame_Del_p.E162del|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(2)|p.E162K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													---	233	---	---	10	---					
NAV2	89797	broad.mit.edu	37	11	19955653	19955653	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:19955653delA	uc010rdm.2	+	7	2293	c.1932delA	c.(1930-1932)ggafs	p.G644fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.G557fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.G621fs|NAV2_uc021qew.1_Frame_Shift_Del_p.G621fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	644						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCAGAAGGAAAAGGCCCAG	0.622													---	535	---	---	7	---					
KCNA4	3739	broad.mit.edu	37	11	30032918	30032920	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:30032918_30032920delCTG	uc021qfi.1	-	0	1306_1308	c.1306_1308delCAG	c.(1306-1308)cagdel	p.Q436del	KCNA4_uc001msk.3_In_Frame_Del_p.Q436del	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	436	Poly-Gln.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.Q436R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGGACATGGCCTGCTGCTGCTGA	0.532													---	679	---	---	7	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:30034029_30034031delTGG	uc021qfi.1	-	0	195_197	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_uc001msk.3_In_Frame_Del_p.H65del	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H64R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCGCGTGACTGGTGGTGGTGGT	0.660													---	530	---	---	7	---					
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:35513670delC	uc001mwf.3	-	2	345	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													---	1622	---	---	7	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:47359101_47359103delTCT	uc021qis.1	-	24	2496_2498	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_uc021qir.1_In_Frame_Del_p.K466del|MYBPC3_uc010rhl.2_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													---	489	---	---	10	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57076529	57076529	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:57076529delC	uc001njr.3	-	4	3968	c.3656delG	c.(3655-3657)ggafs	p.G1219fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G1219fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G670fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1219	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G1219E(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AACTCCGATTCCCCCCGGCTC	0.582													---	2016	---	---	9	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:61183765_61183767delAGG	uc001nrq.3	-	5	909_911	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_uc001nrp.3_In_Frame_Del_p.P302del|CPSF7_uc001nrr.3_In_Frame_Del_p.P250del|CPSF7_uc001nrs.1_In_Frame_Del_p.P160del	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	259	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611													---	450	---	---	7	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:61607885_61607887delTCC	uc001nsl.1	+	2	548_550	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_uc001nsj.2_In_Frame_Del_p.L115del|FADS2_uc010rlo.1_In_Frame_Del_p.L106del|FADS2_uc001nsk.3_In_Frame_Del_p.L137del	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	137				LLLL -> RTRG (in Ref. 8; CAB43280).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													---	1412	---	---	12	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:72528863_72528865delAGG	uc001otd.3	+	2	321_323	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_uc001otc.1_In_Frame_Del_p.E98del|ATG16L2_uc010rrf.1_In_Frame_Del_p.E98del|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_In_Frame_Del_p.E98del	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	98					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													---	292	---	---	8	---					
PIH1D2	120379	broad.mit.edu	37	11	111941931	111941932	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:111941931_111941932insT	uc001pmp.4	-	3	600_601	c.377_378insA	c.(376-378)aatfs	p.N126fs	PIH1D2_uc009yyl.3_Frame_Shift_Ins_p.N126fs|PIH1D2_uc010rws.1_Frame_Shift_Ins_p.N126fs	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	126										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GAATTAACTGATTTTTTTTCAC	0.376													---	670	---	---	8	---					
PHLDB1	23187	broad.mit.edu	37	11	118514602	118514604	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:118514602_118514604delTCC	uc001ptr.2	+	14	3315_3317	c.2962_2964delTCC	c.(2962-2964)tccdel	p.S992del	PHLDB1_uc001pts.3_In_Frame_Del_p.S992del|PHLDB1_uc001ptt.3_In_Frame_Del_p.S945del|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_In_Frame_Del_p.S792del|PHLDB1_uc001ptw.2_In_Frame_Del_p.S347del|PHLDB1_uc009zai.2_In_Frame_Del_p.S28del|PHLDB1_uc001ptx.2_In_Frame_Del_p.S28del|PHLDB1_uc010ryi.1_In_Frame_Del_p.S135del|PHLDB1_uc010ryj.1_In_Frame_Del_p.S130del	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	992										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ctctggctcttcctcctcctcct	0.650													---	332	---	---	10	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:118629613_118629614insG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								---	931	---	---	11	---					
CBL	867	broad.mit.edu	37	11	119170435	119170435	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:119170435delA	uc001pwe.3	+	15	2803	c.2665delA	c.(2665-2667)aaafs	p.K889fs		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	889	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CGAGATGGCCAAAAACATCCT	0.507			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	2625	---	---	7	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	-	-	rs144019095		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:6649704_6649706delGGC	uc010sfe.2	-	9	1713_1715	c.1659_1661delGCC	c.(1657-1662)ccgcca>cca	p.553_554PP>P	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_In_Frame_Del_p.182_183PP>P|IFFO1_uc001qpa.2_In_Frame_Del_p.181_182PP>P|IFFO1_uc001qpb.1_In_Frame_Del_p.218_219PP>P|IFFO1_uc001qpc.2_In_Frame_Del_p.545_546PP>P|IFFO1_uc001qpf.2_In_Frame_Del_p.544_545PP>P|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_In_Frame_Del_p.R181del	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													---	539	---	---	8	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:6711207_6711209delCTT	uc001qpo.3	-	3	519_521	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_uc001qpn.3_In_Frame_Del_p.K112del|CHD4_uc001qpp.3_In_Frame_Del_p.K116del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													---	242	---	---	15	---					
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:18841025delT	uc021qvx.1	-	12	1780	c.1589delA	c.(1588-1590)aatfs	p.N530fs	PLCZ1_uc001rdv.4_Frame_Shift_Del_p.N426fs|PLCZ1_uc001rdw.4_Frame_Shift_Del_p.N271fs|PLCZ1_uc001rdu.1_Frame_Shift_Del_p.N312fs|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294													---	411	---	---	8	---					
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:20833140_20833142delGAA	uc001reh.2	+	15	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_uc021qwa.1_In_Frame_Del_p.E803del	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1125	Poly-Glu.				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)	GGCTATCAAGGAAGAAGAAGAAG	0.478													---	590	---	---	8	---					
MLL2	8085	broad.mit.edu	37	12	49442512	49442514	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:49442512_49442514delTCC	uc001rta.4	-	12	4059_4061	c.4059_4061delGGA	c.(4057-4062)gaggaa>gaa	p.1353_1354EE>E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1353	Poly-Glu.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCATCTTCTTCCTCCTCCTCCT	0.478			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	1219	---	---	13	---					
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:54645832delT	uc001sfh.4	-	2	635	c.317delA	c.(316-318)aagfs	p.K106fs	CBX5_uc001sfk.4_Frame_Shift_Del_p.K106fs|CBX5_uc001sfj.4_Frame_Shift_Del_p.K106fs	NM_001127322	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 1, mRNA.	106					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323													---	935	---	---	13	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	909	---	---	19	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:66531936_66531937insA	uc009zqr.3	-	7	737_738	c.661_662insT	c.(661-663)tatfs	p.Y221fs	LLPH_uc010ssx.2_Intron|TMBIM4_uc001stc.3_Frame_Shift_Ins_p.Y174fs|TMBIM4_uc001std.3_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc001stf.3_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.3_Frame_Shift_Ins_p.F158fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													---	180	---	---	23	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:72057256_72057258delGCT	uc001swo.2	-	0	492_494	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_uc010sts.2_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.3_In_Frame_Del_p.S45del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	954	---	---	8	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:88524078_88524079insT	uc001tar.3	-	8	979_980	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_uc001tat.3_5'Flank|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	212					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													---	802	---	---	9	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:111099110_111099112delCTC	uc001trs.1	-	3	328_330	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_uc001trq.1_In_Frame_Del_p.E55del|HVCN1_uc001trt.1_In_Frame_Del_p.E55del|HVCN1_uc010syd.1_In_Frame_Del_p.E35del	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													---	376	---	---	9	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:113704096_113704098delCTG	uc001tux.3	+	4	739_741	c.565_567delCTG	c.(565-567)ctgdel	p.L194del	TPCN1_uc001tuw.3_In_Frame_Del_p.L122del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.R193Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													---	2647	---	---	69	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:121017154_121017156delCTC	uc001tys.3	-	4	493_495	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_uc001tyt.3_In_Frame_Del_p.E103del	NM_015918	NP_057002	Q969H6	POP5_HUMAN	Homo sapiens processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) (POP5), transcript variant 1, mRNA.	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													---	813	---	---	11	---					
NCOR2	9612	broad.mit.edu	37	12	124957636	124957636	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124957636delG	uc021rga.1	-	3	570	c.453delC	c.(451-453)cccfs	p.P151fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.P151fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.P151fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.P151fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.P151fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.P151fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P151fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.P151fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	151					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGGGCTGGGGGGAGACA	0.637													---	536	---	---	7	---					
BRI3BP	140707	broad.mit.edu	37	12	125478381	125478382	+	In_Frame_Ins	INS	-	CTG	CTG	rs61379857		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:125478381_125478382insCTG	uc001uha.1	+	0	188_189	c.45_46insCTG	c.(43-48)insCTG	p.25_26insL		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	25						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		gggccgggctcctgctgctgct	0.822													---	3	---	---	3	---					
NOC4L	79050	broad.mit.edu	37	12	132635525	132635525	+	Splice_Site	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:132635525delG	uc001ujz.1	+	10	943	c.902_splice	c.e10-1	p.G301_splice		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	301					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCTGTCTGCAGGGGGGGCCCT	0.597													---	578	---	---	7	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:25671804_25671806delGCT	uc001upy.3	+	0	1529_1531	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													---	417	---	---	8	---					
CDK8	1024	broad.mit.edu	37	13	26975609	26975611	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:26975609_26975611delCAG	uc001uqr.1	+	11	1140_1142	c.1117_1119delCAG	c.(1117-1119)cagdel	p.Q377del	CDK8_uc001uqs.1_In_Frame_Del_p.Q376del|CDK8_uc001uqt.1_In_Frame_Del_p.Q204del	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	377	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAGAAGAACCAGCAGCAGCAGC	0.463													---	248	---	---	7	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:28367927_28367929delGGC	uc001urr.1	+	1	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													---	456	---	---	7	---					
KBTBD7	84078	broad.mit.edu	37	13	41767432	41767434	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:41767432_41767434delCTG	uc001uxw.1	-	0	1269_1271	c.960_962delCAG	c.(958-963)agcagt>agt	p.320_321SS>S	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	320							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		gctgctgctactgctgctgctgc	0.512													---	213	---	---	7	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:47243183_47243186delCCTG	uc001vbk.3	+	2	707_710	c.471_474delCCTG	c.(469-474)gccctgfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbj.3_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.4_Frame_Shift_Del_p.A157fs	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													---	1157	---	---	7	---					
EBPL	84650	broad.mit.edu	37	13	50235208	50235209	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:50235208_50235209insA	uc001vdg.3	-	3	579_580	c.516_517insT	c.(514-519)tttaacfs	p.F172fs	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	172					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.F172fs*7(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACACACCGTTAAAAAAAAACA	0.480													---	338	---	---	11	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:88329794_88329796delCGG	uc001vln.3	+	1	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_uc010tic.1_In_Frame_Del_p.G481del|SLITRK5_uc021rlc.1_In_Frame_Del_p.G722del	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	722						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													---	506	---	---	11	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:95696016delT	uc001vmd.4	-	28	3774	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_uc010afj.3_Intron|ABCC4_uc010afk.3_Frame_Shift_Del_p.I1172fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													---	555	---	---	13	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:21961060_21961062delGCT	uc001waz.3	+	6	1388_1390	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_uc001way.3_In_Frame_Del_p.A304del|TOX4_uc010tlu.2_In_Frame_Del_p.A411del|TOX4_uc010tlv.2_In_Frame_Del_p.A304del	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	434	Gln/Pro-rich.|Poly-Ala.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													---	1131	---	---	22	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:35592700delT	uc001wsy.1	+	1	609	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.H83fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													---	297	---	---	7	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:45642288_45642289delCT	uc001wwd.4	+	12	2290_2291	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_uc010anf.3_Frame_Shift_Del_p.L705fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.L267fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	461	---	---	7	---					
ARID4A	5926	broad.mit.edu	37	14	58831996	58831997	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:58831996_58831997delAG	uc001xdp.3	+	19	3443_3444	c.3189_3190delAG	c.(3187-3192)caagagfs	p.Q1063fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.Q1063fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.Q1063fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.Q741fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1063					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAATTGTACAAGAGAGAGAGAG	0.381													---	444	---	---	7	---					
PRKCH	5583	broad.mit.edu	37	14	62014535	62014535	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:62014535delT	uc001xfn.3	+	12	2141	c.1836delT	c.(1834-1836)cctfs	p.P612fs	PRKCH_uc010tsa.2_Frame_Shift_Del_p.P451fs|PRKCH_uc010tsb.2_Frame_Shift_Del_p.P180fs|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	612	Protein kinase.		P -> S (in dbSNP:rs34159231).		intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGACATCCTTTTTTTAAGG	0.522													---	2250	---	---	7	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:72190482_72190484delTCC	uc001xms.3	+	15	4751_4753	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_uc001xmt.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.3_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.2_In_Frame_Del_p.S922del	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													---	925	---	---	21	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	145	---	---	10	---					
C14orf43	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:74205926_74205928delCTG	uc010tud.1	-	0	1031_1033	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	C14orf43_uc001xot.3_In_Frame_Del_p.Q262del|C14orf43_uc001xou.3_In_Frame_Del_p.Q262del|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GTAGGgctgcctgctgctgctgc	0.650													---	198	---	---	15	---					
LTBP2	4053	broad.mit.edu	37	14	75022277	75022277	+	Frame_Shift_Del	DEL	G	-	-	rs148766628	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:75022277delG	uc001xqa.3	-	3	1337	c.950delC	c.(949-951)ccgfs	p.P317fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	317					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P317L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCTGGTCCCGGGGGCAGGGC	0.642													---	776	---	---	7	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:103599784_103599786delAGC	uc001ymm.1	+	8	1762_1764	c.1631_1633delAGC	c.(1630-1635)gagcag>gag	p.Q548del	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_In_Frame_Del_p.Q217del|TNFAIP2_uc010tya.1_In_Frame_Del_p.Q31del	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	548					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													---	523	---	---	7	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													---	1010	---	---	12	---					
FAM82A2	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:41029893_41029894insT	uc001zmp.1	-	9	1341_1342	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	FAM82A2_uc001zmo.1_Frame_Shift_Ins_p.T386fs|FAM82A2_uc001zmq.1_Frame_Shift_Ins_p.T386fs	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	386					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGCTGTAGCAGTTTTTTTTTCT	0.450													---	405	---	---	12	---					
ZFP106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:42742957delA	uc001zpw.3	-	1	1771	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Del_p.S265fs|ZFP106_uc001zpy.1_Frame_Shift_Del_p.S505fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	482						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTCCAGGGGAAAAAAAATTT	0.393													---	1117	---	---	9	---					
TTBK2	146057	broad.mit.edu	37	15	43038023	43038024	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:43038023_43038024insT	uc001zqo.2	-	14	4143_4144	c.3704_3705insA	c.(3703-3705)aagfs	p.K1235fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.K1166fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1235					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGGCTTACTCTTCCCTTGGGG	0.535													---	1282	---	---	15	---					
TTBK2	146057	broad.mit.edu	37	15	43038025	43038026	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:43038025_43038026insC	uc001zqo.2	-	14	4141_4142	c.3702_3703insG	c.(3700-3705)gggaagfs	p.G1234fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.G1165fs|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1234					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGCTTACTCTTCCCTTGGGGGG	0.540													---	1311	---	---	19	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:64972995_64972997delCAC	uc002ann.3	+	6	4096_4098	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1371	Poly-His.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591													---	1050	---	---	15	---					
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:69328208_69328210delCTG	uc002ars.2	+	6	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_In_Frame_Del_p.L334del|NOX5_uc002arp.2_In_Frame_Del_p.L362del|NOX5_uc010bid.2_In_Frame_Del_p.L345del|NOX5_uc010bie.2_In_Frame_Del_p.L180del|NOX5_uc002arr.2_In_Frame_Del_p.L352del|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).	angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													---	1161	---	---	13	---					
GOLGA6C	653641	broad.mit.edu	37	15	75562489	75562489	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:75562489delC	uc002azs.2	+	17	2072	c.2031delC	c.(2029-2031)aacfs	p.N677fs	DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	677										ovary(1)	1						CCCATGACAACCCCCCGGTAC	0.602													---	1287	---	---	7	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:4796953_4796955delGAG	uc002cxn.3	+	7	1669_1671	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													---	84	---	---	7	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	489	---	---	8	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:28931200_28931202delCTG	uc002drq.3	-	2	385_387	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_In_Frame_Del_p.Q42del|RABEP2_uc010byn.3_In_Frame_Del_p.Q113del|RABEP2_uc002drr.3_In_Frame_Del_p.Q113del	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	113	Poly-Gln.				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													---	431	---	---	8	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:30982809_30982811delTCC	uc002ead.1	+	12	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													---	468	---	---	15	---					
CNGB1	1258	broad.mit.edu	37	16	57983275	57983277	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:57983275_57983277delTCC	uc002emt.2	-	13	1166_1168	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_uc010cdh.2_In_Frame_Del_p.361_362EE>E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	367	Poly-Glu.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586													---	402	---	---	8	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:67300017_67300019delGAG	uc002esm.3	+	14	2170_2172	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	SLC9A5_uc010cee.3_In_Frame_Del_p.E413del|SLC9A5_uc010vji.2_In_Frame_Del_p.E212del	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	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													---	479	---	---	17	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:67763279_67763281delGAG	uc002eud.3	-	9	1370_1372	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_uc010ceo.3_In_Frame_Del_p.189_190SS>S|RANBP10_uc010vju.2_In_Frame_Del_p.362_363SS>S|RANBP10_uc010vjv.2_In_Frame_Del_p.301_302SS>S|RANBP10_uc010vjw.1_In_Frame_Del_p.79_80SS>S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	418	Ser-rich.							p.S418S(4)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													---	266	---	---	11	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:69726420_69726422delCAG	uc002exm.2	+	11	2974_2976	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_uc002exj.2_In_Frame_Del_p.Q812del|NFAT5_uc002exk.2_In_Frame_Del_p.Q812del|NFAT5_uc002exl.2_In_Frame_Del_p.Q906del|NFAT5_uc002exn.2_In_Frame_Del_p.Q905del|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_In_Frame_Del_p.Q812del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	888	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													---	310	---	---	10	---					
PHLPP2	23035	broad.mit.edu	37	16	71683564	71683565	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:71683564_71683565insG	uc002fax.3	-	17	3206_3207	c.3200_3201insC	c.(3199-3201)ccafs	p.P1067fs	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Frame_Shift_Ins_p.P1000fs|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1067						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.K1066E(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATGGAGTGGCTGGCTTAGGGGC	0.535													---	1064	---	---	13	---					
ZFHX3	463	broad.mit.edu	37	16	72822034	72822036	+	In_Frame_Del	DEL	GCT	-	-	rs149197237		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:72822034_72822036delGCT	uc002fck.3	-	9	10812_10814	c.10139_10141delAGC	c.(10138-10143)cagcgg>cgg	p.Q3380del	ZFHX3_uc002fcl.3_In_Frame_Del_p.Q2466del	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3380	Poly-Gln.		Missing.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgtagttgccgctgctgctgctg	0.621													---	268	---	---	7	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:77356311delA	uc002ffc.4	-	13	2504	c.2085delT	c.(2083-2085)tttfs	p.F695fs	ADAMTS18_uc010chc.1_Frame_Shift_Del_p.F283fs|ADAMTS18_uc002ffe.1_Frame_Shift_Del_p.F391fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)|p.F694Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403													---	517	---	---	14	---					
NUP88	4927	broad.mit.edu	37	17	5322811	5322813	+	In_Frame_Del	DEL	GCG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:5322811_5322813delGCG	uc010vsx.2	-	0	247_249	c.158_160delCGC	c.(157-162)ccgcag>cag	p.P53del	NUP88_uc002gbo.2_In_Frame_Del_p.P53del|NUP88_uc010cle.2_In_Frame_Del_p.P53del|NUP88_uc010vsy.2_In_Frame_Del_p.P53del|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	53					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GTCAGCAACTGCGGCGGCGGCGA	0.596													---	900	---	---	9	---					
CHD3	1107	broad.mit.edu	37	17	7796803	7796804	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7796803_7796804insC	uc002gjd.2	+	4	888_889	c.886_887insC	c.(886-888)tccfs	p.S296fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.S237fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.S237fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.S69fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	237					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATAGCACCCTCCGGACCCCCC	0.653													---	210	---	---	7	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7801857_7801859delAAG	uc002gjd.2	+	12	2274_2276	c.2272_2274delAAG	c.(2272-2274)aagdel	p.K762del	CHD3_uc002gje.2_In_Frame_Del_p.K703del|CHD3_uc002gjf.2_In_Frame_Del_p.K703del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													---	335	---	---	10	---					
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:8370271_8370273delCTC	uc002glj.3	+	8	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_uc002gli.3_3'UTR|NDEL1_uc002glk.1_Non-coding_Transcript	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	327	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													---	746	---	---	8	---					
SMCR7	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:18167778_18167780delGCT	uc010vxq.2	+	3	1124_1126	c.1098_1100delGCT	c.(1096-1101)cggctg>cgg	p.L371del	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_In_Frame_Del_p.L360del	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	360						integral to membrane	protein binding	p.L356R(1)|p.L370L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTCGCCGGCGGCTGCTGCTGCTG	0.685													---	502	---	---	7	---					
EPN2	22905	broad.mit.edu	37	17	19232950	19232950	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:19232950delA	uc002gvd.4	+	8	1849	c.1401delA	c.(1399-1401)tcafs	p.S467fs	EPN2_uc010cql.1_Frame_Shift_Del_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Del_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Del_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Del_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Del_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Del_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Del_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Del_p.S130fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCGGACTTCAAAAAAAACAG	0.393													---	495	---	---	10	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	256	---	---	12	---					
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	-	-	rs1054145	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:27620932_27620934delTGG	uc002hdy.4	-	0	233_235	c.144_146delCCA	c.(142-147)caccat>cat	p.48_49HH>H	NUFIP2_uc002hdx.4_In_Frame_Del_p.48_49HH>H	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	48	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591													---	1033	---	---	8	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	Splice_Site	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	-	rs483929	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	uc002hwe.4	-	2	287	c.246_splice	c.e2-1	p.S82_splice		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	101	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													---	550	---	---	139	---					
FKBP10	60681	broad.mit.edu	37	17	39975559	39975559	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:39975559delC	uc002hxv.2	+	4	1150	c.825delC	c.(823-825)ctcfs	p.L275fs	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	275					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGCTGGAGCTCCCCCCCGGCT	0.632													---	715	---	---	7	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	630	---	---	9	---					
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:48433967delC	uc002iqo.3	+	7	1687	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602													---	600	---	---	8	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:56387404_56387406delTCC	uc002ivx.4	-	20	4684_4686	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_uc010dcs.3_In_Frame_Del_p.1211_1212EE>E|BZRAP1_uc010wnt.2_In_Frame_Del_p.1271_1272EE>E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													---	526	---	---	11	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:62291438_62291440delTCC	uc002jed.3	-	1	289_291	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_uc002jec.3_In_Frame_Del_p.46_47EE>E|TEX2_uc002jee.3_In_Frame_Del_p.46_47EE>E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	46	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													---	621	---	---	13	---					
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569													---	924	---	---	9	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr18:47812275_47812277delCTG	uc002leq.4	-	4	1214_1216	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_uc002lep.4_In_Frame_Del_p.Q18del|CXXC1_uc002ler.4_In_Frame_Del_p.Q161del|CXXC1_uc010doy.3_In_Frame_Del_p.Q161del	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													---	289	---	---	8	---					
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:11618821delG	uc002msb.3	-	4	915	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													---	854	---	---	7	---					
GSK3A	2931	broad.mit.edu	37	19	42740804	42740805	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:42740804_42740805insG	uc002otb.1	-	3	738_739	c.619_620insC	c.(619-621)cgcfs	p.R207fs	GSK3A_uc002ota.1_Frame_Shift_Ins_p.R125fs	NM_019884	NP_063937	P49840	GSK3A_HUMAN	Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA.	207	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGTGAAGTGGCGGGCCACCCGG	0.584													---	1147	---	---	7	---					
KLC3	147700	broad.mit.edu	37	19	45850756	45850758	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:45850756_45850758delGAG	uc002pbg.1	+	2	683_685	c.583_585delGAG	c.(583-585)gagdel	p.E198del	KLC3_uc002pbf.1_In_Frame_Del_p.E184del|KLC3_uc010ejy.1_In_Frame_Del_p.E183del	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	184						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTTCCCCAGCGAGGAGGAGGAGA	0.645													---	538	---	---	11	---					
PNMAL1	55228	broad.mit.edu	37	19	46973195	46973197	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:46973195_46973197delCTT	uc002peq.4	-	1	1402_1404	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_uc002per.4_Splice_Site_p.K366_splice	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562													---	1648	---	---	9	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	1067	---	---	57	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	424	---	---	12	---					
NUP62	23636	broad.mit.edu	37	19	50411672	50411673	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:50411672_50411673insG	uc002prb.3	-	1	1636_1637	c.1392_1393insC	c.(1390-1395)cccgccfs	p.P464fs	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pqy.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pra.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002pqz.3_Frame_Shift_Ins_p.P464fs|NUP62_uc002prc.3_Frame_Shift_Ins_p.P388fs|NUP62_uc021uya.1_Frame_Shift_Ins_p.P464fs	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	464					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGTGTCGGCGGGGGCCCCGG	0.579													---	1680	---	---	8	---					
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:50868836_50868838delGCA	uc002prx.3	-	0	94_96	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	14					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596													---	237	---	---	7	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	413	---	---	12	---					
KIR3DL2	3812	broad.mit.edu	37	19	55324675	55324675	+	Frame_Shift_Del	DEL	A	-	-	rs148484482		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:55324675delA	uc010yfl.2	+	5	829	c.796delA	c.(796-798)aaafs	p.K266fs	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Frame_Shift_Del_p.K251fs|KIR3DL2_uc021vbn.1_Frame_Shift_Del_p.K268fs|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	366	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.M271fs*>3(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532													---	191	---	---	8	---					
RASSF2	9770	broad.mit.edu	37	20	4776492	4776494	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:4776492_4776494delAGG	uc002wld.3	-	3	308_310	c.254_256delCCT	c.(253-258)tcctgg>tgg	p.S85del	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_In_Frame_Del_p.S85del	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	85					cell cycle|signal transduction	nucleus	protein binding	p.S84S(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCAGAGTGCCAGGAGGAGGAGGA	0.611													---	889	---	---	7	---					
CD93	22918	broad.mit.edu	37	20	23065992	23065992	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:23065992delC	uc002wsv.3	-	0	986	c.838delG	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGGAGCCATCCCCCCCTTCA	0.627													---	1247	---	---	8	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					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)					ggaggaggaagaggaggaggagg	0.532													---	463	---	---	22	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	326	---	---	9	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:47989771_47989772insG	uc002xur.1	-	1	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.P775fs	KCNB1_uc002xus.1_Frame_Shift_Ins_p.P775fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													---	2788	---	---	7	---					
SALL4	57167	broad.mit.edu	37	20	50408526	50408526	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:50408526delG	uc002xwh.4	-	1	597	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_uc010gii.3_Frame_Shift_Del_p.Q166fs|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTATGTCCTGGGGGGTGGGT	0.577													---	1584	---	---	7	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:58452518_58452519insT	uc002yaz.3	-	31	3210_3211	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.N1024fs*3(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													---	256	---	---	10	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	165	---	---	7	---					
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:27394182_27394184delGTG	uc002ylz.3	-	5	1037_1039	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_uc010glk.3_In_Frame_Del_p.274_275TT>T|APP_uc002yma.3_In_Frame_Del_p.279_280TT>T|APP_uc011ach.2_In_Frame_Del_p.223_224TT>T|APP_uc021whz.1_In_Frame_Del_p.279_280TT>T|APP_uc021wia.1_In_Frame_Del_p.279_280TT>T|APP_uc002ymb.3_In_Frame_Del_p.279_280TT>T|APP_uc010glj.3_In_Frame_Del_p.223_224TT>T|APP_uc021wib.1_In_Frame_Del_p.279_280TT>T|APP_uc011aci.2_In_Frame_Del_p.244_245TT>T|APP_uc011acj.2_In_Frame_Del_p.279_280TT>T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	279	Poly-Thr.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													---	237	---	---	7	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	468	---	---	17	---					
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	-	-	rs145794160	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:26906183_26906185delTCA	uc003acr.2	-	2	428_430	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	TFIP11_uc003acs.2_In_Frame_Del_p.18_19DD>D|TFIP11_uc003act.2_In_Frame_Del_p.18_19DD>D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	18	Poly-Asp.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532													---	575	---	---	9	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:29445819_29445821delCAG	uc003aeg.3	+	7	1650_1652	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_uc021wnq.1_In_Frame_Del_p.S457del	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	557						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													---	270	---	---	10	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	811	---	---	18	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:40816887_40816889delTGC	uc003ayv.1	-	6	1050_1052	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_uc010gyf.1_In_Frame_Del_p.Q231del|MKL1_uc003ayw.1_In_Frame_Del_p.Q281del|MKL1_uc010gye.1_In_Frame_Del_p.Q281del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								---	378	---	---	8	---					
C22orf32	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	-	-	rs141840500		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:42478046_42478048delGAT	uc003bca.3	+	1	382_384	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	107	Asp/Glu-rich.					integral to membrane|mitochondrion				ovary(1)	1						TGTTCCAGAGGATGATGATGATG	0.478													---	669	---	---	12	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr22:42605990_42605992delCTG	uc003bcj.1	-	0	5454_5456	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_uc003bck.1_In_Frame_Del_p.Q1774del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601													---	661	---	---	8	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	181	---	---	19	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	35	---	---	21	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	473	---	---	12	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			---	352	---	---	7	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:119072752_119072753delTC	uc004esh.3	-	1	574_575	c.407_408delGA	c.(406-408)agafs	p.R136fs	NKAP_uc004esg.3_5'Flank	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	136					Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322													---	458	---	---	8	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:119694117_119694119delGAG	uc004esw.3	-	2	866_868	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_uc004esv.3_In_Frame_Del_p.125_126SS>S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	143	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													---	242	---	---	15	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:135585048_135585050delAAG	uc004ezw.3	+	5	1104_1106	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_uc004ezx.3_In_Frame_Del_p.K232del	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													---	280	---	---	7	---					
MAGEC1	9947	broad.mit.edu	37	X	140993906	140993908	+	In_Frame_Del	DEL	CCT	-	-	rs146816736	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:140993906_140993908delCCT	uc004fbt.3	+	3	1040_1042	c.716_718delCCT	c.(715-720)ccctcc>ccc	p.S243del	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	243							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAGCCCCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			---	816	---	---	9	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													---	315	---	---	14	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:151303906_151303908delAGG	uc022cgz.1	-	0	185_187	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_In_Frame_Del_p.S62del|MAGEA10_uc004ffm.2_In_Frame_Del_p.S62del|MAGEA10_uc004ffl.3_In_Frame_Del_p.S62del	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	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													---	446	---	---	9	---					
