Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													20	498					0	0	1	0	0
IGHM	0	broad.mit.edu	37	14	106321805	106321805	+	RNA	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:106321805C>T	ENST00000390559.2	-	0	428																											ACACCTGAATCTGCCGGGGAC	0.652000													38	216					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47733693	47733693	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:47733693G>A	ENST00000371828.3	-	12	1864	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	STAU1_ENST00000371856.2_Silent_p.I534I|STAU1_ENST00000347458.5_Silent_p.I453I|STAU1_ENST00000371792.1_Silent_p.I451I|STAU1_ENST00000371802.1_Silent_p.I459I|STAU1_ENST00000360426.4_Silent_p.I453I|STAU1_ENST00000340954.7_Silent_p.I453I	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	534						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATCCTTGCCGATACCATGGC	0.478000													5	440					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17764134	17764134	+	Splice_Site	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:17764134G>T	ENST00000380043.3	+	3	361		c.e3-1		SCML1_ENST00000380041.3_Intron|SCML1_ENST00000398080.1_Splice_Site|SCML1_ENST00000380045.3_Intron	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)						anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TAAAATATTAGCAGGAACCGA	0.353000													5	442					0.000602214	0.000618132	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000342960.5_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	636										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACAGGATAGATGT	0.473000													5	256					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26520380	26520380	+	Splice_Site	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:26520380G>A	ENST00000456354.2	+	3	526		c.e3+1			NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGGAAGGTGAGATCCTG	0.522000													45	391					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								7	1527					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363559	22363559	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:22363559C>A	ENST00000397121.2	-	3	1277	c.960G>T	c.(958-960)tgG>tgT	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGCTTGAGGACCAGCTGAAGG	0.433000													14	545					9.8876e-21	1.1076e-20	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128727	147128727	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:147128727T>G	ENST00000282928.4	+	1	1557	c.828T>G	c.(826-828)tgT>tgG	p.C276W		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	276					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGGAGGAGTGTCCGCGCGAGG	0.577000													53	536					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534720	50534720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:50534720G>A	ENST00000267845.3	-	12	2128	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	HDC_ENST00000543581.1_Nonsense_Mutation_p.Q543*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	576					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTCTTAGTCTGCACAGACAAG	0.547000													7	1041					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238290080	238290080	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:238290080C>T	ENST00000295550.4	-	5	1827	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A52T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A253T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A258T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A52T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A253T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A253T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A459T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	459	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAAGTTGGCCAGTCCCAGT	0.488000													4	269					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636157	44636157	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:44636157G>A	ENST00000322734.2	+	3	805	c.472G>A	c.(472-474)Gga>Aga	p.G158R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTTCACACCGGAGAGAAGCC	0.443000													5	539					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977304	30977304	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:30977304C>T	ENST00000262519.8	+	8	2788	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA 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						GGATTGATTGCCGCCTCAGCT	0.637000													7	740					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713051	52713051	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:52713051G>A	ENST00000293670.3	-	2	544	c.482C>T	c.(481-483)gCt>gTt	p.A161V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	161	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGTAGCCAGCAAACAGGGG	0.622000													6	706					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1290										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468000													4	212					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299863	186299863	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:186299863G>A	ENST00000439351.1	+	7	1608	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E227K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	227					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTTATTGGAGAAGGTGAAAT	0.388000													17	168					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458000													9	268					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37690642	37690642	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:37690642C>A	ENST00000315215.7	+	9	1575	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	GPR124_ENST00000412232.2_Missense_Mutation_p.D404E			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	404					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCGGTGTGACCGTGCCGGCC	0.667000													58	304					8.81991e-31	1.00737e-30	1	1	0
NAB2	4665	broad.mit.edu	37	12	57485472	57485472	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485472C>T	ENST00000300131.3	+	2	1026	c.648C>T	c.(646-648)gtC>gtT	p.V216V	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.V216V|NAB2_ENST00000357680.4_Silent_p.V216V	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	216					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGGAGGAGTCCCTGAGGGGA	0.687000													32	283					0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194631	80194631	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:80194631C>T	ENST00000581287.1	+	2	2572	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC16A3_ENST00000392339.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000582743.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000392341.1_Missense_Mutation_p.R84C|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	84					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GTGCGTGAACCGCTTTGGCTG	0.662000											OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	564					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	308					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382454	22382454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:22382454C>A	ENST00000263160.3	+	5	1022	c.585C>A	c.(583-585)taC>taA	p.Y195*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	195					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GTGTGACCTACCCAGCATGTC	0.502000													15	162					9.16793e-09	9.93548e-09	1	1	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													6	619					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		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)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								6	260					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15183511	15183511	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:15183511C>T	ENST00000378150.1	-	2	171	c.74G>A	c.(73-75)aGa>aAa	p.R25K	NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.R25K|NMT2_ENST00000378165.4_Silent_p.Q52Q			O60551	NMT2_HUMAN	N-myristoyltransferase 2	50					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						tttttctcttctgtttcttct	0.418000													26	237					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33842384	33842384	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:33842384G>A	ENST00000246186.6	+	4	729	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	215					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAAAGTGACCGGAAGGAGGCA	0.522000													6	1183					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30696647	30696647	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:30696647C>T	ENST00000394670.4	+	12	1523	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	ZNF207_ENST00000342555.6_Missense_Mutation_p.P455S|ZNF207_ENST00000341711.6_Missense_Mutation_p.P353S|ZNF207_ENST00000321233.6_Missense_Mutation_p.P436S|ZNF207_ENST00000394673.2_Missense_Mutation_p.P421S|ZNF207_ENST00000577908.1_Missense_Mutation_p.P452S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGGCATGCCAGGATACCT	0.493000													4	194					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533745	141533745	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:141533745C>T	ENST00000389484.3	-	33	6393	c.5422G>A	c.(5422-5424)Gga>Aga	p.G1808R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1808					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGTTTCTTCCGTCTCTTTTG	0.388000										TSP Lung(27;0.18)			33	285					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135173643	135173643	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:135173643C>T	ENST00000372169.2	-	13	5787	c.5605G>A	c.(5605-5607)Gcc>Acc	p.A1869T	SETX_ENST00000393220.1_Missense_Mutation_p.A1869T|SETX_ENST00000224140.5_Missense_Mutation_p.A1869T			Q7Z333	SETX_HUMAN	senataxin	1869					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTAAATTGGCCGGAAAGTTC	0.393000													5	460					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273546	10273546	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:10273546C>T	ENST00000304886.2	+	5	388	c.180C>T	c.(178-180)gtC>gtT	p.V60V	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	60	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCGATCGTGTCGAAGAAGGCA	0.403000													74	435					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495342	6495342	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:6495342G>A	ENST00000264071.2	-	4	1539	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R390W			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	390					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GCCTTGCGCCGGAACATGGCC	0.617000													8	1450					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120286	64120286	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGTGAACGCCTGATGCA	0.682000													17	199					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGGTTGTCCGCAAAAACTCC	0.627000													6	667					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75508352	75508352	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:75508352T>G	ENST00000228027.7	+	6	1044	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	DGAT2_ENST00000376262.3_Missense_Mutation_p.F219V	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	262					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCGCAAGGGCTTTGTGAAACT	0.617000													40	460					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117527019	117527019	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:117527019C>T	ENST00000254029.3	+	4	1006	c.611C>T	c.(610-612)gCc>gTc	p.A204V	WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488000													5	433					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148778579	148778579	+	Silent	SNP	C	C	T	rs137985485		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:148778579C>T	ENST00000310053.5	-	11	1420	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	HLTF_ENST00000392912.2_Silent_p.P409P|HLTF_ENST00000465259.1_Silent_p.P409P|HLTF_ENST00000494055.1_Silent_p.P409P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	409					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATTTTCTGCGGCAATTCAC	0.294000													4	260					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	261					0.0215528	0.0217394	1	1	0
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G						neuroblastoma breakpoint family, member 8																		GATGAGAAAGAGCCTGAAGTC	0.483000													7	1025					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46280016	46280016	+	Missense_Mutation	SNP	T	T	C	rs2597017		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:46280016T>C	ENST00000336378.4	+	24	2594	c.2476T>C	c.(2476-2478)Tgc>Cgc	p.C826R	FAM21C_ENST00000540872.1_Missense_Mutation_p.C828R|FAM21C_ENST00000359860.4_Missense_Mutation_p.C770R|FAM21C_ENST00000537517.1_Missense_Mutation_p.C753R|FAM21C_ENST00000374362.2_Missense_Mutation_p.C828R	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	828										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTCCCAGGGCTGCGATCCTGA	0.483000													5	332					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139837347	139837347	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:139837347G>A	ENST00000325285.3	-	4	479	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	134							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGTAGGGCCGCATGTCCGCG	0.647000													5	723					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978219	247978219	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:247978219A>C	ENST00000357627.1	-	1	812	c.813T>G	c.(811-813)atT>atG	p.I271M		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGAACACAGAAATTACAGCAT	0.418000													44	268					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:33493201C>T	ENST00000254260.3	-	9	1092	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642000													6	354					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213814	42213814	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:42213814G>A	ENST00000221992.6	+	2	394	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEA_ENST00000598976.1_Missense_Mutation_p.A94T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.A94T|CEACAM5_ENST00000405816.1_Missense_Mutation_p.A94T	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	94	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAGGGCCCGCATACAGTGG	0.458000													6	1038					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159396	123159396	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:123159396G>A	ENST00000264501.4	+	28	4097	c.3724G>A	c.(3724-3726)Gca>Aca	p.A1242T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1242T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1242T|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1242					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTAGTGCTGCACAGCCTTT	0.413000													5	381					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15609767	15609767	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:15609767G>A	ENST00000464847.2	+	3	746	c.193G>A	c.(193-195)Gca>Aca	p.A65T	ZNF286A_ENST00000585194.1_Missense_Mutation_p.A65T|ZNF286A_ENST00000583566.1_Missense_Mutation_p.A65T|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.A55T|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.A65T|ZNF286A_ENST00000413242.2_Missense_Mutation_p.A65T|ZNF286A_ENST00000395893.2_Missense_Mutation_p.A65T|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395894.2_Missense_Mutation_p.A65T|ZNF286A_ENST00000472486.1_Missense_Mutation_p.A55T			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GCTGGATCCTGCACAAAGGGA	0.403000													5	427					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485474	57485474	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485474C>T	ENST00000300131.3	+	2	1028	c.650C>T	c.(649-651)cCt>cTt	p.P217L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.P217L|NAB2_ENST00000357680.4_Missense_Mutation_p.P217L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGGAGTCCCTGAGGGGACT	0.682000													34	289					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662000													5	92					0.000602214	0.000618132	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241465801	241465801	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:241465801A>G	ENST00000391987.1	-	6	1114	c.748T>C	c.(748-750)Ttt>Ctt	p.F250L	ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F250L|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F339L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	250							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAGGGTGCAAAGCCACTGCGC	0.532000													33	293					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024186	28024186	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:28024186G>A	ENST00000375790.5	-	4	898	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MKX_ENST00000419761.1_Missense_Mutation_p.R156W			Q8IYA7	MKX_HUMAN	mohawk homeobox	156					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R156W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACGCTAAGCCGTTCAGCATTG	0.378000													44	408					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													9	436					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487297	94487297	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:94487297G>A	ENST00000375708.3	-	9	1677	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ROR2_ENST00000375715.1_Silent_p.F353F|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	493	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCAGGGCCGAACAGGTGAC	0.607000													8	1468					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													11	530					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529386	63529386	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:63529386T>G	ENST00000550760.3	+	2	300	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F41V(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CGGAAACCTGTTCTCCTTGGG	0.383000													5	50					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022572	73022572	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:73022572C>T	ENST00000263674.3	+	1	3239	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	963	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCAGTGTGCCCGCCACATTTA	0.627000													52	438					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773416	137773416	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:137773416G>A	ENST00000242375.3	+	2	205	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	AKR1D1_ENST00000411726.2_Missense_Mutation_p.A55T|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A55T|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	55					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TATTGATGGGGCCTACATCTA	0.498000													4	188					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959137	53959137	+	RNA	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:53959137G>T	ENST00000454407.1	+	0	1829							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CATCGTAGACGTCATACTGGA	0.393000													5	572					0.0215528	0.0217394	1	1	0
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGGGGATGCGGCGCCAGGA	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	649					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49174003	49174003	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:49174003G>A	ENST00000270235.4	-	2	336	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	81						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GTACAGAAGCGCAAGCTGACA	0.672000													26	148					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49154021	49154021	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:49154021G>A	ENST00000453664.1	-	8	1434	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	USP19_ENST00000417901.1_Silent_p.N382N|USP19_ENST00000398888.2_Silent_p.N281N|USP19_ENST00000398892.3_Silent_p.N319N|USP19_ENST00000398896.1_Silent_p.N87N|USP19_ENST00000398898.2_Silent_p.N319N|USP19_ENST00000434032.2_Silent_p.N382N	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	281	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACGCCAGGTTCACCATCG	0.512000													5	454					0	0	1	0	0
LPO	0	broad.mit.edu	37	17	56321439	56321439	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:56321439C>A	ENST00000262290.4	+	3	477	c.161C>A	c.(160-162)aCc>aAc	p.T54N	LPO_ENST00000421678.2_Intron|LPO_ENST00000543544.1_Intron|LPO_ENST00000582328.1_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	54					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GACTCCCGAACCAGGTACGTG	0.547000													4	137					1	1	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													7	769					2.0095e-06	2.13796e-06	1	1	0
COX11	1353	broad.mit.edu	37	17	53045707	53045707	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:53045707C>T	ENST00000299335.3	-	1	439	c.301G>A	c.(301-303)Gct>Act	p.A101T	COX11_ENST00000571584.1_Missense_Mutation_p.A101T	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	101					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						ACGGCGACAGCGGCCACGTAA	0.692000													7	450					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164142	92164142	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:92164142G>A	ENST00000481551.1	+	4	916	c.875G>A	c.(874-876)cGt>cAt	p.R292H	RBM48_ENST00000265732.5_Missense_Mutation_p.R292H			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	292							nucleotide binding										GAAGATGATCGTAAACTTGGA	0.423000													5	265					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535188	45535188	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:45535188G>A	ENST00000291576.7	+	6	641	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	172						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTGGGTGTTCGGAGCCGAGCG	0.557000													8	843					0	0	1	0	0
GTDC2	0	broad.mit.edu	37	3	43122275	43122275	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:43122275G>A	ENST00000344697.2	-	2	994	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	GTDC2_ENST00000441964.1_Missense_Mutation_p.R217W	NM_032806.4	NP_116195.2																					AGCTGTGCCCGCAGGAGAGGC	0.627000													5	460					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14501852	14501852	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:14501852G>A	ENST00000242786.5	+	4	387	c.307G>A	c.(307-309)Gca>Aca	p.A103T	CD97_ENST00000358600.3_Missense_Mutation_p.A103T|CD97_ENST00000357355.3_Missense_Mutation_p.A103T|CD97_ENST00000587728.1_3'UTR	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	103	EGF-like 2; calcium-binding (Potential).			A -> T (in Ref. 4; AAB36682).	cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTTTCTGGGGCAAAAACATT	0.527000													5	508					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672363	30672363	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:30672363C>T	ENST00000376406.3	-	10	5244	c.4597G>A	c.(4597-4599)Gca>Aca	p.A1533T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1269T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1533	Interaction with the PRKDC complex.			A -> T (in Ref. 4; BAC54931/BAF31266).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCAGGGGCTGCGGGCACAACT	0.592000								Other conserved DNA damage response genes					8	1406					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	35					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865606	6865606	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:6865606G>T	ENST00000307659.5	+	7	3952	c.3497G>T	c.(3496-3498)gGa>gTa	p.G1166V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1166V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1166							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATTACTATGGAAAATCAGAG	0.413000													48	333					1.47857e-17	1.63274e-17	1	1	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													9	102					0	0	1	0	0
CD59	966	broad.mit.edu	37	11	33731808	33731808	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:33731808A>C	ENST00000395850.3	-	4	326	c.251T>G	c.(250-252)cTa>cGa	p.L84R	CD59_ENST00000534312.1_Missense_Mutation_p.L84R|CD59_ENST00000415002.2_Missense_Mutation_p.L84R|CD59_ENST00000445143.2_Missense_Mutation_p.L84R|CD59_ENST00000426650.2_Missense_Mutation_p.L84R|CD59_ENST00000437761.2_Missense_Mutation_p.L84R|CD59_ENST00000528700.1_Missense_Mutation_p.L84R|CD59_ENST00000351554.3_Missense_Mutation_p.L84R|CD59_ENST00000527577.1_Missense_Mutation_p.L84R|CD59_ENST00000533403.1_3'UTR	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	84	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GTAGTACGTTAGCTCATTTTC	0.443000													37	316					0	0	1	0	0
RPL23AP53	0	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:163215G>A	ENST00000606975.1	-	0	706																											AGATACACATGTATTTAGAGT	0.323000													12	212					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452494	10452494	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:10452494G>A	ENST00000397077.1	-	5	780	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	ATP2B2_ENST00000383800.4_Missense_Mutation_p.P69S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P69S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.P69S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P69S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	69					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGTGCCCGGCAAACCTGTG	0.522000													7	855					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724837	49724837	+	Missense_Mutation	SNP	G	G	A	rs41291712		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:49724837G>A	ENST00000449682.2	-	4	791	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	MST1_ENST00000494828.2_5'UTR|MST1_ENST00000545762.1_Intron|MST1_ENST00000383728.3_Missense_Mutation_p.P69S	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	130	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTGGCAGGGCAGGCCACCC	0.587000													7	435					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													9	308					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													33	321					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													4	34					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696198	153696198	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:153696198C>T	ENST00000369682.3	+	21	3849	c.3674C>T	c.(3673-3675)gCg>gTg	p.A1225V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1225					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGGCTGGCGGCGGGGGGT	0.687000													4	165					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													7	343					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													7	523					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	310					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143614731	143614731	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:143614731C>T	ENST00000517894.1	+	25	4368	c.3474C>T	c.(3472-3474)acC>acT	p.T1158T	BAI1_ENST00000323289.5_Silent_p.T1158T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1158					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGCCGTCACCGACCGCCGCT	0.657000													9	64					0	0	1	0	0
TMEM252	169693	broad.mit.edu	37	9	71155605	71155605	+	Silent	SNP	C	C	T	rs147451213		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:71155605C>T	ENST00000377311.3	-	1	178	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_153237.1	NP_694969.1			transmembrane protein 252																		GCAAATAGGCCGCAATCAGGC	0.532000													28	181					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859863	144859863	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:144859863T>G	ENST00000369359.4	-	41	6667	c.6629A>C	c.(6628-6630)cAg>cCg	p.Q2210P	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2074P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1968P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2159P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2074					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCAGCTGCTGTTGCAGCTG	0.597000			T	PDGFRB	MPD								28	563					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957932	63957932	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:63957932G>T	ENST00000373789.3	-	12	1661	c.1565C>A	c.(1564-1566)aCa>aAa	p.T522K	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	522					signal transduction	intracellular				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)					CAATTGATCTGTGTTACTCTG	0.398000													93	820					7.0627e-44	8.10645e-44	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13900350	13900350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:13900350G>A	ENST00000265104.4	-	15	2328	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	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)					TATCTATCTCGTTTCTGGAAG	0.383000									Kartagener syndrome				6	353					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485473	57485473	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:57485473C>T	ENST00000300131.3	+	2	1027	c.649C>T	c.(649-651)Cct>Tct	p.P217S	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.P217S|NAB2_ENST00000357680.4_Missense_Mutation_p.P217S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	217					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGAGGAGTCCCTGAGGGGAC	0.682000													33	288					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47307259	47307259	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:47307259G>A	ENST00000335044.2	-	8	1234	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.R200W|KIF9_ENST00000265529.3_Missense_Mutation_p.R293W|KIF9_ENST00000444589.2_Missense_Mutation_p.R293W|KIF9_ENST00000452770.2_Missense_Mutation_p.R293W	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	293					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R293W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTGCACTGCCGAAAGGGGATG	0.577000													5	455					0	0	1	0	0
GBP1P1	0	broad.mit.edu	37	1	89885809	89885809	+	RNA	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:89885809C>T	ENST00000513638.1	+	0	349					NR_003133.2																						GTGGTGTATGCCCCATCCCAA	0.532000													5	400					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66318750	66318750	+	RNA	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:66318750G>A	ENST00000502692.1	+	0	433				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CGCAAGGCAGGCACCCAGATC	0.562000													13	76					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9860530	9860530	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:9860530G>A	ENST00000547186.1	+	6	671	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TTLL3_ENST00000427853.3_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.R295H|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000397241.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	152	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACTGCTGCCCGCAACGTTCTC	0.557000													6	858					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208225740	208225740	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:208225740G>A	ENST00000367033.3	-	15	3682	c.2925C>T	c.(2923-2925)acC>acT	p.T975T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	975	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTAATGGCCGGTAATGGTCA	0.542000													6	470					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													6	260					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10945733	10945733	+	Silent	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:10945733G>T	ENST00000214869.2	-	3	440	c.342C>A	c.(340-342)atC>atA	p.I114I	TMED1_ENST00000591695.1_Intron|TMED1_ENST00000588289.1_5'UTR	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	114	GOLD.				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCTTCTCGGAGATGGTGCTGA	0.587000													59	504					3.07002e-29	3.48934e-29	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													5	419					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887095	9887095	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr18:9887095G>A	ENST00000306084.6	+	2	818	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G140S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	207	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAAGAGGGTGACATCCC	0.567000													7	836					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21751430	21751430	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:21751430C>A	ENST00000328843.6	+	43	6987	c.6956C>A	c.(6955-6957)tCc>tAc	p.S2319Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2312Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2319	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCACTGTTTCCAGAGCTGGT	0.448000									Kartagener syndrome				28	183					3.73988e-18	4.16934e-18	1	1	0
C17orf70	80233	broad.mit.edu	37	17	79514425	79514425	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:79514425G>A	ENST00000537152.1	-	5	1755	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	C17orf70_ENST00000425898.2_Silent_p.S210S|C17orf70_ENST00000327787.8_Silent_p.S561S	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	561					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGGTGATGGCGGAGCAGGCCG	0.677000													5	521					0	0	1	0	0
TYSND1	219743	broad.mit.edu	37	10	71903618	71903618	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:71903618G>A	ENST00000287078.6	-	2	1276	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	426	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GTGCTCAGCGGGCACAGGGAT	0.587000													13	166					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64525944	64525944	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:64525944G>A	ENST00000164139.3	-	3	787	c.389C>T	c.(388-390)gCg>gTg	p.A130V	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	130					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCCCAGCCCCGCATCCTCCTC	0.652000													8	869					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													9	213					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:158605758G>A	ENST00000368148.3	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1793W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1793					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522000													6	799					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													7	234					0.0293803	0.029507	1	1	0
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567000													6	626					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													4	121					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													7	411					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102294661	102294661	+	RNA	SNP	G	G	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:102294661G>C	ENST00000561463.1	+	0	2707																											TGTCCAACCTGCACTCGCTTG	0.592000													30	89					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	86					0.00116845	0.00119407	1	1	0
RBM10	8241	broad.mit.edu	37	X	47030588	47030588	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:47030588G>T	ENST00000377604.3	+	4	1105	c.363G>T	c.(361-363)gaG>gaT	p.E121D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	121	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggatgaggaggaggagg	0.662000													4	94					0.00909568	0.00925456	1	1	0
CDC27	996	broad.mit.edu	37	17	45219271	45219271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:45219271C>T	ENST00000066544.3	-	12	1592	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCACAGTACCCAACCAGTATT	0.358000													6	823					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520885	137520885	+	Splice_Site	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:137520885A>G	ENST00000394894.3	+	15	2151	c.1926_splice	c.e15+1	p.Q642_splice	KIF20A_ENST00000508792.1_Splice_Site_p.Q624_splice	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	642					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGAGATTCAGGTGAGTTGC	0.408000													5	471					0	0	1	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22546279	22546279	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:22546279C>T	ENST00000424340.1	+	7	2254	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.R659C	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTGCGGGGGCCGCTTCCACCC	0.572000													9	1196					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607501	61607501	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:61607501C>T	ENST00000583023.1	+	3	368	c.357C>T	c.(355-357)gaC>gaT	p.D119D	KCNH6_ENST00000580652.1_Silent_p.D119D|KCNH6_ENST00000581784.1_Silent_p.D119D|KCNH6_ENST00000314672.5_Silent_p.D119D|KCNH6_ENST00000456941.2_Silent_p.D119D	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	119	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGAACGAGGACGGGGCTGTCA	0.632000													29	366					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000275	219000275	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:219000275C>T	ENST00000318507.2	+	3	1178	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	251					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCGGGCCATGCGGGTCATCTT	0.582000													8	1169					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959151	53959151	+	RNA	SNP	C	C	A	rs146851069		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:53959151C>A	ENST00000454407.1	+	0	1843							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGCAACCTTACAA	0.393000													5	547					3.59834e-05	3.77663e-05	1	1	0
CLK3	1198	broad.mit.edu	37	15	74922153	74922153	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:74922153C>A	ENST00000395066.3	+	13	2307	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M	CLK3_ENST00000352989.5_Missense_Mutation_p.L445M|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.L468M	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	616	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGAGGCCCTGCTGCACCCCTT	0.607000													18	104					1.56452e-12	1.71143e-12	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46925285	46925285	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:46925285C>T	ENST00000359759.4	+	35	4293	c.4272C>T	c.(4270-4272)ccC>ccT	p.P1424P	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Silent_p.P1189P|COL18A1_ENST00000400337.2_Silent_p.P1009P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1424	Nonhelical region 10 (NC10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCAGCGTTCCCGGCCCTCCGG	0.701000													10	120					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2043129	2043129	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:2043129G>A	ENST00000250896.3	-	7	731	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	MKNK2_ENST00000591601.1_Missense_Mutation_p.R163W|MKNK2_ENST00000309340.7_Missense_Mutation_p.R163W|MKNK2_ENST00000541165.1_Missense_Mutation_p.R32W	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	163	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACCTCCCCGCATCTTCTCA	0.632000													7	1036					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890244	23890244	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:23890244G>A	ENST00000532292.1	-	1	931	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGCCTTGCCGGAGCGGCGTG	0.652000													5	350					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					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)		GGCGCTTGTGCGGGCTTTGCA	0.652000													10	1773					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115489072	115489072	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:115489072T>C	ENST00000369321.2	+	8	1104	c.784T>C	c.(784-786)Tat>Cat	p.Y262H	CASP7_ENST00000369331.4_Silent_p.A217A|CASP7_ENST00000345633.4_Missense_Mutation_p.Y229H|CASP7_ENST00000369318.3_Missense_Mutation_p.Y229H|CASP7_ENST00000452490.2_Missense_Mutation_p.Y204H|CASP7_ENST00000369315.1_Missense_Mutation_p.Y229H	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	229					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TGTTGAAGGCTATTACTCGTG	0.498000													5	567					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845430	156845430	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156845430C>T	ENST00000368196.3	+	11	1575	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	NTRK1_ENST00000392302.2_Silent_p.I455I|NTRK1_ENST00000524377.1_Silent_p.I491I|NTRK1_ENST00000358660.3_Silent_p.I485I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	491	Interaction with SQSTM1 (By similarity).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCCACATCATCGAGAACCCAC	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			38	365					0	0	1	0	0
IGHV4-31	0	broad.mit.edu	37	14	106805378	106805378	+	RNA	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:106805378G>T	ENST00000438142.2	-	0	256																											GCCCTTCCCTGGGTGCTGGCG	0.552000													64	489					3.07184e-27	3.47446e-27	1	1	0
SPAG16	79582	broad.mit.edu	37	2	215275017	215275017	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:215275017G>A	ENST00000331683.5	+	16	1969	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.G531D|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	625					cilium assembly	cilium axoneme|flagellar axoneme		p.G625D(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCTCTGACGGCACAGTTCGA	0.512000													6	529					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005292	42005292	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:42005292C>T	ENST00000395925.3	-	15	3463	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1127					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCAAAGTCACCGGGCCCGTGG	0.652000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	698					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:90162462A>G	ENST00000567960.1	+	0	1198				TUBB8P7_ENST00000564451.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													8	526					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661206	22661206	+	RNA	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:22661206T>C	ENST00000426066.1	+	0	298					NR_027293.1																						AGCTGAATCATGCAGAATTTG	0.408000													5	248					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779702	18779702	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:18779702G>A	ENST00000300976.4	+	3	1585	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	499								p.V499M(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGAACCCCGCGTGCTACACGC	0.667000													45	359					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								16	298					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38257817	38257817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:38257817G>A	ENST00000379957.4	+	5	800	c.673G>A	c.(673-675)Gta>Ata	p.V225I	LETM2_ENST00000297720.5_Missense_Mutation_p.V130I|LETM2_ENST00000527710.1_Missense_Mutation_p.V11I|LETM2_ENST00000524874.1_Missense_Mutation_p.V177I|LETM2_ENST00000523983.2_Missense_Mutation_p.V178I	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	225	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GAAAATGGCTGTAAAGTTGGA	0.373000													5	286					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677492	73677492	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:73677492G>A	ENST00000264448.6	+	8	3946	c.3835G>A	c.(3835-3837)Gct>Act	p.A1279T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1279	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.A1279T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAGCTGTAACCTC	0.433000													6	630					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													5	348					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848509	73848509	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:73848509C>T	ENST00000523207.1	+	3	1507	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	307					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCGAATCATGCGCATCCTCAG	0.512000													5	362					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650202	96650202	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:96650202G>A	ENST00000222598.4	-	3	1189	c.716C>T	c.(715-717)gCc>gTc	p.A239V	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	239					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGAGGGTGGGCATGAGGGTG	0.642000													5	355					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943491	17943491	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:17943491G>A	ENST00000458235.1	-	19	2616	c.2517C>T	c.(2515-2517)tgC>tgT	p.C839C	JAK3_ENST00000534444.1_Silent_p.C839C|JAK3_ENST00000527670.1_Silent_p.C839C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	839	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTCATAGCGGCACAGCTCCA	0.647000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								6	695					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169847419	169847419	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:169847419G>A	ENST00000263817.6	-	9	924	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	267	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCATAGTCCGTAAACTTGGA	0.403000													8	647					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512000													16	3757					0	0	1	0	0
PCDHB11	0	broad.mit.edu	37	5	140579846	140579846	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:140579846G>A	ENST00000354757.3	+	1	499	c.499G>A	c.(499-501)Gta>Ata	p.V167I	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		167	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATCAATGCTGTAAAAAGCTA	0.418000													7	599					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													8	478					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90482330	90482330	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:90482330C>T	ENST00000369393.3	-	14	2160	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	MDN1_ENST00000428876.1_Missense_Mutation_p.G682D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	682					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAGGTTTTGCCAGTCCCGGT	0.493000													8	633					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909272	123909272	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:123909272C>T	ENST00000330487.5	-	1	445	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGCCAAGTGCCGGTGGCCAG	0.552000													6	931					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45297532	45297532	+	Silent	SNP	G	G	A	rs148527231		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:45297532G>A	ENST00000270279.3	+	9	1419	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P	CBLC_ENST00000341505.4_Silent_p.P406P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	452					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.P452P(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ATGCCCAGCCGAAAGTGGTGA	0.662000			M		AML								6	697					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	130					1.5739e-10	1.71364e-10	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38647306	38647306	+	RNA	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:38647306G>A	ENST00000494540.1	+	0	177					NR_003086.1																						TGTGTTTGGCGTGCAGGAATA	0.562000													4	198					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72955992	72955992	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:72955992C>T	ENST00000425042.2	-	8	1069	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_030630.2	NP_085133.1			HID1 domain containing																		ACGATGGATGCGGGACAGGTA	0.627000													6	752					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694532	153694532	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:153694532G>A	ENST00000369682.3	+	15	2893	c.2718G>A	c.(2716-2718)ccG>ccA	p.P906P		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	906	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCCAGCCCGCCGCCGGGGC	0.687000													4	300					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													5	267					2.0095e-06	2.13796e-06	1	1	0
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	rs61777495	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000357760.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000404249.3_Intron					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338000													6	186					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	32					1.23904e-05	1.30632e-05	1	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGTCTCACCGCATAAAGTCT	0.517000													6	1058					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621326	171621326	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:171621326G>A	ENST00000037502.5	-	1	485	c.426C>T	c.(424-426)taC>taT	p.Y142Y		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	142					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGTTGCTGTAGGCAGTCT	0.597000													6	757					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348000													7	1102					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44282246	44282246	+	Silent	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:44282246G>T	ENST00000395749.2	-	9	685	c.609C>A	c.(607-609)atC>atA	p.I203I	CAMK2B_ENST00000358707.3_Silent_p.I203I|CAMK2B_ENST00000395747.2_Silent_p.I203I|CAMK2B_ENST00000353625.4_Silent_p.I203I|CAMK2B_ENST00000350811.3_Silent_p.I203I|CAMK2B_ENST00000457475.1_Silent_p.I203I|CAMK2B_ENST00000346990.4_Silent_p.I203I|CAMK2B_ENST00000258682.6_Silent_p.I203I|CAMK2B_ENST00000440254.2_Silent_p.I203I|CAMK2B_ENST00000347193.4_Silent_p.I203I|CAMK2B_ENST00000502837.2_Silent_p.I74I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	203	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGATGTACAGGATCACCCCTG	0.627000													6	82					8.12818e-05	8.49268e-05	1	1	0
DNM1P47	0	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													5	125					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32336800	32336800	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:32336800C>A	ENST00000375200.1	+	4	776	c.411C>A	c.(409-411)agC>agA	p.S137R	ZNF341_ENST00000342427.2_Missense_Mutation_p.S137R			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCTTGGTGAGCGATGATGTGC	0.582000													40	332					6.97489e-18	7.7388e-18	1	1	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													8	335					0.000157383	0.000162979	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs36179995		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677000													12	1549					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636948	248636948	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:248636948G>A	ENST00000359594.2	+	1	322	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATTTCCCCGTCAGGCTGTG	0.547000													38	260					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16036495	16036495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:16036495C>T	ENST00000419869.2	+	2	446	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q58*|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	45					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TATGCTACGCCAGGGAGATAC	0.363000													23	213					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													6	888					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95515048	95515048	+	RNA	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:95515048C>T	ENST00000432432.2	-	0	609					NR_040113.1																						TGGGGTATTACTGTCCTACAA	0.323000													9	732					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													8	457					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891246	155891246	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:155891246G>A	ENST00000368320.3	-	10	1211	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	KIAA0907_ENST00000368321.3_Missense_Mutation_p.P396S|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A362V			Q7Z7F0	K0907_HUMAN	KIAA0907	396	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)			GGTAATGCCGGCAAGACTCCA	0.537000													6	318					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													10	327					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73407031	73407031	+	Silent	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:73407031G>A	ENST00000555042.1	+	4	362	c.297G>A	c.(295-297)aaG>aaA	p.K99K	DCAF4_ENST00000509153.1_Silent_p.K99K|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000358377.2_Silent_p.K99K|DCAF4_ENST00000353777.3_Silent_p.K99K	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	99						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCCGGCAGAAGGAGATGGAGA	0.562000													51	406					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025216	5025216	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:5025216G>A	ENST00000256495.3	+	5	1681	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	360						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGCCTCTGCCGCAGCCCTCTC	0.602000													5	637					0	0	1	0	0
ERVW-1	0	broad.mit.edu	37	7	92098549	92098549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:92098549G>A	ENST00000493463.2	-	1	2070	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R383*	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		383	Immunosuppression (By similarity).				syncytium formation	integral to membrane|plasma membrane|virion		p.R383*(1)		endometrium(1)|large_intestine(1)|lung(15)	17						aaagctcttcgattttgaagg	0.448000													4	175					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													7	25					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61912661	61912661	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:61912661G>A	ENST00000394818.3	+	13	1938	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	INCENP_ENST00000278849.4_Missense_Mutation_p.R575H	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	579					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACGCCTCCGCAAGGTGCTG	0.597000													5	552					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711375	198711375	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:198711375G>A	ENST00000367376.2	+	25	2741	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H	PTPRC_ENST00000348564.6_Missense_Mutation_p.R698H|PTPRC_ENST00000442510.2_Missense_Mutation_p.R859H|PTPRC_ENST00000352140.3_Missense_Mutation_p.R809H|PTPRC_ENST00000594404.1_Missense_Mutation_p.R696H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	857	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGTGTTGGGCGCACAGGAACC	0.463000													5	638					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642000													8	1027					0	0	1	0	0
CORO7-PAM16	0	broad.mit.edu	37	16	4391484	4391484	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:4391484G>T	ENST00000572467.1	-	29	2947	c.2879C>A	c.(2878-2880)gCc>gAc	p.A960D	PAM16_ENST00000577031.1_Missense_Mutation_p.A37D|PAM16_ENST00000576217.1_Missense_Mutation_p.A37D|PAM16_ENST00000575848.1_Missense_Mutation_p.A49D|PAM16_ENST00000571941.1_Missense_Mutation_p.A57D|PAM16_ENST00000573553.1_Missense_Mutation_p.A57D|PAM16_ENST00000318059.3_Missense_Mutation_p.A37D|CORO7-PAM16_ENST00000572274.1_5'UTR	NM_001201479.1	NP_001188408.1																					GCGTCCTCGGGCATCAGCTGC	0.652000													6	88					0.000157383	0.000162979	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567000													7	1143					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566225	155566225	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:155566225C>T	ENST00000295101.2	+	2	1290	c.813C>T	c.(811-813)tgC>tgT	p.C271C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	271				C -> R (in Ref. 3; AAH22495).	synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCACAATTTGCCACGTGATCG	0.478000													5	393					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													10	290					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413293	186413293	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:186413293G>A	ENST00000391997.2	-	4	646	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PDC_ENST00000497198.1_Missense_Mutation_p.P135S|PDC_ENST00000456239.2_Missense_Mutation_p.P135S|PDC_ENST00000340129.5_Missense_Mutation_p.P187S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	187					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGCAGTGTAGGAAGTACATCT	0.388000													49	498					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756603	49756603	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:49756603G>A	ENST00000535833.1	-	10	3746	c.296C>T	c.(295-297)gCg>gTg	p.A99V	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.A99V|RNF123_ENST00000497099.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	99					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGACCCAGCGCATCTAGTTC	0.677000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	481					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000													5	472					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													13	267					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60821755	60821755	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:60821755G>A	ENST00000544856.2	-	6	892	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	MARCH10_ENST00000583600.1_Missense_Mutation_p.P211S|MARCH10_ENST00000311269.5_Missense_Mutation_p.P173S|MARCH10_ENST00000456609.2_Missense_Mutation_p.P173S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	173							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGGGAACCGGCACCTTTGCA	0.547000													6	834					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													21	281					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823668	45823668	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:45823668G>A	ENST00000358525.4	-	2	284	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	SLC6A20_ENST00000456124.2_Missense_Mutation_p.P57S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.P57S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	57					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TACAAGAGCGGCATTCCCTCC	0.597000													4	184					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153035414	153035414	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:153035414C>G	ENST00000285900.5	+	5	1024	c.681C>G	c.(679-681)caC>caG	p.H227Q	GRIA1_ENST00000448073.4_Missense_Mutation_p.H237Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.H158Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.H237Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.H227Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.H147Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	227					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCGGCTACCACTACATTCTTG	0.448000													54	365					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gcc>g	p.AT218del	AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	218	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(1)		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													7	143	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													19	305	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-	rs10712628		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2																						ATTTCAATCCAAACATAGCTG	0.393													7	166	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				26	52	---	---	---	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)ggfs	p.G758fs	ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													9	874	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				12	453	---	---	---	---					
GPATCH4	54865	broad.mit.edu	37	1	156565385	156565385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156565385delT	ENST00000368232.4	-	8	865	c.733delA	c.(733-735)ggfs	p.R246fs	GPATCH4_ENST00000438976.2_Frame_Shift_Del_p.R251fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	246						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATGTCGCCTTTTCTTCTTC	0.458													7	1416	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													10	707	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								8	556	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					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)			GGGACATGAGCACCACCACCACC	0.571													9	488	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													11	585	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821440	206821441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:206821440_206821441insA	ENST00000367106.1	+	4	1310_1311	c.837_838insA	c.(835-840)ataaaafs	p.IK279fs	DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.IK299fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.IK279fs			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	299	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGAGCTGATTAAAAAAAATAA	0.406													7	811	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)ttfs	p.F4739fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403													7	242	---	---	---	---					
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)ggfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													8	544	---	---	---	---					
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)agfs	p.K626fs	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													7	1180	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													8	429	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													16	440	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													12	1405	---	---	---	---					
MARCH7	64844	broad.mit.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:160604680delT	ENST00000259050.3	+	5	1001	c.879delT	c.(877-879)acfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393													7	369	---	---	---	---					
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:167055992delT	ENST00000375387.4	-	27	5500	c.5160delA	c.(5158-5160)aafs	p.K1720fs	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGATGAACTTTTTTTGGGT	0.423													9	1529	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	32	---	---	---	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													8	321	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs72096937		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:233712228_233712230delCAG	ENST00000373566.3	+	28	3894_3896	c.3697_3699delCAG	c.(3697-3699)del	p.Q1238del	GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547													12	229	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	542	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													8	671	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	T	-	rs11288337		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:49723112delT	ENST00000449682.2	-	11	1665	c.1304delA	c.(1303-1305)acfs	p.N435fs	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													9	309	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													16	1202	---	---	---	---					
RPL32P3	0	broad.mit.edu	37	3	129115167	129115169	+	RNA	DEL	TTG	TTG	-	rs72982668		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:129115167_129115169delTTG	ENST00000514355.1	-	0	513																				lung(1)	1						ttttttttttttGCTCCTATAAC	0.458													7	299	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													9	380	---	---	---	---					
ZBTB38	253461	broad.mit.edu	37	3	141162874	141162875	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:141162874_141162875insA	ENST00000514251.1	+	4	1923_1924	c.1644_1645insA	c.(1642-1647)agaaaafs	p.RK548fs	ZBTB38_ENST00000321464.5_Frame_Shift_Ins_p.RK549fs|ZBTB38_ENST00000441582.2_Frame_Shift_Ins_p.RK548fs			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	548					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTTCCATCAGTAAAAAAACAGC	0.386													52	373	---	---	---	---					
PCOLCE2	26577	broad.mit.edu	37	3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383													8	960	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													7	118	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													9	267	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cag>c	p.QK866del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del			Q6ZU35	K1211_HUMAN	KIAA1211	866										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCAGAACAGAAGAAGAAGAA	0.567													7	256	---	---	---	---					
RP11-25H12.1	0	broad.mit.edu	37	4	66960408	66960411	+	RNA	DEL	AAAT	AAAT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:66960408_66960411delAAAT	ENST00000508572.1	+	0	463																											TTCTGGtaaaaaataaataaataa	0.353													3	6	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792137	79792139	+	In_Frame_Del	DEL	CAG	CAG	-	rs17855588		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:79792137_79792139delCAG	ENST00000335016.5	+	11	1598_1600	c.1432_1434delCAG	c.(1432-1434)del	p.Q486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.Q486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcaacagcaacagcagcagcagc	0.498													16	235	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													13	432	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	383	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52397308	52397308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:52397308delT	ENST00000396954.3	-	5	935	c.258delA	c.(256-258)aafs	p.K86fs	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000361377.4_Intron	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AGCTAATGACTTTTTTCCCTT	0.318													7	991	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824033	112824034	+	In_Frame_Ins	INS	-	-	GCTGCC			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:112824033_112824034insGCTGCC	ENST00000408903.3	-	1	493_494	c.78_79insGGCAGC	c.(76-81)aggcag>agGGCAGCgcag	p.26_27RQ>RAAQ		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	554					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.S26_S27insGS(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		Tcgctgctgctgctgctgctgc	0.743													7	136	---	---	---	---					
PCDHA9	0	broad.mit.edu	37	5	140230509	140230509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:140230509delT	ENST00000378122.3	+	1	3153	c.2429delT	c.(2428-2430)atfs	p.I810fs	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			atttatataattttttttCTT	0.353													9	820	---	---	---	---					
PDGFRB	5159	broad.mit.edu	37	5	149510155	149510156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr5:149510155_149510156insC	ENST00000261799.4	-	9	1782_1783	c.1313_1314insG	c.(1312-1314)gcgfs	p.A438fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	438	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCCCGGCCACGACAGCG	0.614			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	1058	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44																											GGCCAGCCTCCCTCCTCCTCCTC	0.586													16	704	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													10	994	---	---	---	---					
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)ttfs	p.F668fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527													7	2205	---	---	---	---					
UFL1	23376	broad.mit.edu	37	6	96999786	96999786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr6:96999786delA	ENST00000369278.4	+	17	2038	c.1972delA	c.(1972-1974)aafs	p.K659fs		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	659					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAGGGGAGACAAAAAAAGGGA	0.338													7	543	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								8	412	---	---	---	---					
COL28A1	340267	broad.mit.edu	37	7	7514292	7514292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:7514292delT	ENST00000399429.3	-	15	1382	c.1242delA	c.(1240-1242)aafs	p.K414fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	414					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTTCAGAACCTTTTTCACCCT	0.393													7	483	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8198250	8198251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:8198250_8198251insT	ENST00000402384.3	-	7	877_878	c.611_612insA	c.(610-612)attfs	p.I204fs	ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs|ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	204	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.N204fs*5(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATTTGTCAAAGTTTTTTTTTGC	0.376													8	351	---	---	---	---					
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aaa>aa	p.KK281del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	2199	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					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	13	418	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													7	111	---	---	---	---					
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:56087292delC	ENST00000395471.3	-	5	1081		c.e5+1		PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site			P78330	SERB_HUMAN	phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577													10	356	---	---	---	---					
PMS2P4	0	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs60169909		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:66762432delG	ENST00000414507.1	-	0	184																											gtctcaaaaagaaaaaaaaaa	0.408													7	72	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													9	816	---	---	---	---					
AZGP1P1	0	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1																						cttagtttacagtgaaaacaa	0.522													9	40	---	---	---	---					
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:99771554delC	ENST00000292377.2	-	5	963	c.796delG	c.(796-798)tcfs	p.V266fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTGAGGGGACCCCCCGGCAC	0.642													7	1180	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-	rs142340746		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaa>ga	p.EE338del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													10	399	---	---	---	---					
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aafs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383													7	754	---	---	---	---					
TRBV7-8	0	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88																											TAGTCATcatacacacacacac	0.441													16	299	---	---	---	---					
TRBV6-5	0	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													17	474	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151836878	151836879	+	Splice_Site	INS	-	-	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:151836878_151836879insA	ENST00000355193.2	-	57	14733		c.e57-2		KMT2C_ENST00000485655.2_5'UTR|KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		GCCCAGCCCCTAAAAAAAAGTG	0.411													9	607	---	---	---	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)del	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													9	261	---	---	---	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)agtfs	p.S234fs	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													7	446	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:74507471delT	ENST00000355780.5	-	10	1213	c.995delA	c.(994-996)atfs	p.N332fs	STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													8	448	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aatcaafs	p.NQ533fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													12	649	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													14	899	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gag>ga	p.EL1155del		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1155	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616													8	935	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98278959	98278961	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:98278959_98278961delTTC	ENST00000375274.2	-	1	286_288	c.142_144delGAA	c.(142-144)del	p.E48del	PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000430669.2_5'UTR|PTCH1_ENST00000468211.2_5'UTR			Q13635	PTC1_HUMAN	patched 1	0					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ctcctccgttttcttcttcttct	0.586													10	436	---	---	---	---					
TSC1	0	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)del	p.S1043del	TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.640			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	311	---	---	---	---					
REXO4	57109	broad.mit.edu	37	9	136282859	136282859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:136282859delT	ENST00000371942.3	-	1	305	c.106delA	c.(106-108)ggfs	p.R36fs	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Frame_Shift_Del_p.R36fs	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	36						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTCCAAAACCTTTTTTTCTTC	0.572													7	909	---	---	---	---					
C9orf69	90120	broad.mit.edu	37	9	139008444	139008446	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr9:139008444_139008446delCAG	ENST00000561457.1	-	2	825_827	c.375_377delCTG	c.(373-378)tgg>tg	p.CW125del	C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del	NM_152833.2	NP_690046.3			chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685													8	183	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			8	530	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T	rs28932171	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:61831289_61831290insT	ENST00000280772.1	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)catfs	p.H3117fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		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						CTGACTTATGATTTTTTTTACA	0.401													8	1028	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:75560464delC	ENST00000604729.1	+	24	5366	c.5069delC	c.(5068-5070)tcfs	p.S1690fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S1511fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S1693fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S1698fs					zinc finger, SWIM-type containing 8																		TTCTCCCGCTCCCCCCCCTAC	0.607													8	649	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	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													16	1169	---	---	---	---					
NT5C2	22978	broad.mit.edu	37	10	104849436	104849438	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:104849436_104849438delTCC	ENST00000343289.5	-	18	1764_1766	c.1677_1679delGGA	c.(1675-1680)gaa>ga	p.EE559del	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	559	Asp/Glu-rich (acidic).				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tccttattcttcctcctcctcct	0.502													7	280	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													8	682	---	---	---	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)acfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													7	879	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)cag>ca	p.HQ65del		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			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													8	504	---	---	---	---					
CHRM4	1132	broad.mit.edu	37	11	46407277	46407277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:46407277delC	ENST00000433765.2	-	1	830	c.831delG	c.(829-831)ccfs	p.P278fs		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	278					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCAGCGCTGGCGGGGGGGCCT	0.672													11	171	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47599139	47599139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:47599139delA	ENST00000533290.1	-	1	1202	c.488delT	c.(487-489)tgfs	p.L163fs	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	138	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGTGCGGGCCAAAAACCGAGA	0.517													7	954	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													19	685	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													10	44	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)ccfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													10	1000	---	---	---	---					
KRT76	51350	broad.mit.edu	37	12	53170672	53170672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:53170672delC	ENST00000332411.2	-	1	457	c.404delG	c.(403-405)gtfs	p.G136fs		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	136	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gccaggcccaccaaatacacc	0.582													22	138	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													7	315	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			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													31	2108	---	---	---	---					
RP11-248G5.8	0	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							cgctattgctccccacccatc	0.537													16	94	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													9	51	---	---	---	---					
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1069-1074)ataaaafs	p.IK357fs	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	357					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272													9	168	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													8	317	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)del	p.E321del	SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616													8	679	---	---	---	---					
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr14:101005271_101005273delCCT	ENST00000556751.1	-	5	4027_4029	c.623_625delAGG	c.(622-627)gcc>g	p.EA210del	BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	274						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													8	94	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													8	402	---	---	---	---					
SPINT1	6692	broad.mit.edu	37	15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)del	p.H501del	SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTTCCACGGACACCACCACCACC	0.586													8	1253	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:64972995_64972997delCAC	ENST00000326648.3	+	7	4224_4226	c.4096_4098delCAC	c.(4096-4098)del	p.H1371del		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	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													7	736	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													7	237	---	---	---	---					
MESDC2	23184	broad.mit.edu	37	15	81271633	81271633	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr15:81271633delT	ENST00000261758.4	-	3	718	c.632delA	c.(631-633)agfs	p.K212fs		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	212					mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		p.K211fs*6(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCTTCCTTCTTTTTTTTGCC	0.493													9	361	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													10	535	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830765	830766	+	In_Frame_Ins	INS	-	-	AAG			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:830765_830766insAAG	ENST00000293892.3	-	3	234_235	c.235_236insCTT	c.(235-237)cac>CTTcac	p.78_79insL	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													7	1064	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													8	297	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													8	677	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591													8	449	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)del	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													7	403	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													9	317	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)ccccacfs	p.H629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.540													7	1196	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gct>g	p.VA777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													14	495	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													8	586	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:7801857_7801859delAAG	ENST00000380358.4	+	13	2273_2275	c.2272_2274delAAG	c.(2272-2274)del	p.K762del	CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													7	332	---	---	---	---					
UPF3AP2	0	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:20279655delT	ENST00000578315.1	-	0	51																											tctgtctctcttttttttttt	0.383													17	18	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			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)					CATCACCCCTAGCAGCAGCAGCA	0.537													12	1459	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													13	342	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	1086	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agc>ag	p.ST2348del	BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2348	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542													9	615	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141031	66141032	+	RNA	DEL	AC	AC	-	rs76883902	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:66141031_66141032delAC	ENST00000590019.1	-	0	70																											AAAAAAAAAAACATAAGCCAAA	0.337													7	242	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:66141032delC	ENST00000590019.1	-	0	70																											AAAAAAAAAACATAAGCCAAA	0.338													20	219	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													10	377	---	---	---	---					
CCDC57	284001	broad.mit.edu	37	17	80159457	80159459	+	In_Frame_Del	DEL	GCT	GCT	-	rs7219708	by1000genomes	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr17:80159457_80159459delGCT	ENST00000392347.1	-	2	398_400	c.362_364delAGC	c.(361-366)ctg>c	p.QL121del	CCDC57_ENST00000389641.4_In_Frame_Del_p.QL121del|CCDC57_ENST00000392343.3_In_Frame_Del_p.QL121del	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	121										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGGAATGCCAGCTGCTGCTGCTG	0.665													7	161	---	---	---	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)del	p.Q161del	CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													7	265	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													13	373	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													8	1058	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													8	278	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													8	1244	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													13	1638	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:40834399delG	ENST00000582783.1	-	6	483	c.471delC	c.(469-471)ccfs	p.P157fs	C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	157										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612													9	2127	---	---	---	---					
PNMAL1	55228	broad.mit.edu	37	19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)del	p.K366del	PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	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													8	1303	---	---	---	---					
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													10	675	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)del	p.L394del	FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	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													12	341	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)cct>c	p.LP14del	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	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													7	176	---	---	---	---					
ZNF701	55762	broad.mit.edu	37	19	53085864	53085864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:53085864delA	ENST00000540331.1	+	5	975	c.750delA	c.(748-750)ccfs	p.P250fs	ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CCTGTAGGCCAAAAACTCGTA	0.383													7	397	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													12	462	---	---	---	---					
LILRB2	0	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:54780707_54780709delGAG	ENST00000391748.1	-	10	1559_1561	c.1432_1434delCTC	c.(1432-1434)del	p.L478del	LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													11	598	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)			8	343	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)ccfs	p.P411fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													25	487	---	---	---	---					
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aafs	p.K691fs	ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488													12	561	---	---	---	---					
SLC9A8	23315	broad.mit.edu	37	20	48467301	48467301	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr20:48467301delT	ENST00000417961.1	+	7	747	c.537delT	c.(535-537)ggfs	p.G179fs	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000539601.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTCTCCAGGGTTTTTTTTTTG	0.333													17	193	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													16	509	---	---	---	---					
LINC00478	0	broad.mit.edu	37	21	17443416	17443417	+	RNA	DEL	TG	TG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431													9	728	---	---	---	---					
CBR3	874	broad.mit.edu	37	21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aafs	p.N114fs	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													7	761	---	---	---	---					
DYRK1A	1859	broad.mit.edu	37	21	38884370	38884372	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:38884370_38884372delCAC	ENST00000339659.3	+	11	3271_3273	c.1801_1803delCAC	c.(1801-1803)del	p.H610del	DYRK1A_ENST00000398960.2_In_Frame_Del_p.H619del|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_In_Frame_Del_p.H391del	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	619	Poly-His.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ccatcaccatcaccaccaccacc	0.498													7	246	---	---	---	---					
BACE2	25825	broad.mit.edu	37	21	42647459	42647461	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:42647459_42647461delCTG	ENST00000330333.6	+	9	1928_1930	c.1465_1467delCTG	c.(1465-1467)del	p.L492del	BACE2_ENST00000347667.4_In_Frame_Del_p.L442del|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	492					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTTAATCGTCCTGCTGCTGCTGC	0.567													8	342	---	---	---	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)del	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													12	410	---	---	---	---					
PIWIL3	440822	broad.mit.edu	37	22	25150021	25150021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:25150021delC	ENST00000332271.5	-	8	1353	c.937delG	c.(937-939)aafs	p.E313fs	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.E204fs|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.E204fs	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	313	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTAGTTACTTCCTCTCGGATG	0.428													66	449	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	481	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43230269	43230269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chr22:43230269delA	ENST00000263245.5	-	5	675	c.456delT	c.(454-456)ttfs	p.F152fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.F108fs|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	152					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CGTGAGAGGCAAAAAAATCTT	0.398													8	869	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	204	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													8	557	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)afs	p.R136fs		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					negative regulation of transcription, DNA-dependent|Notch signaling pathway|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													7	438	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs144357389	byFrequency	TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agc>ag	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			12	979	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													7	473	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)del	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				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													10	256	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FB-A7DR-01A-21D-A33T-08	TCGA-FB-A7DR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87b35eca-4050-432c-910e-873dbe3cf8ea	df8901cd-b022-4674-bb97-2d67a7c132cc	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	412	---	---	---	---					
