Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													7	484					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													10	182					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518249	123518249	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:123518249G>A	ENST00000422452.2	-	30	6595	c.6532C>T	c.(6532-6534)Cgt>Tgt	p.R2178C	TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAACTATAACGCCACTGGGTT	0.448000													15	292					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480377	56480377	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56480377G>T	ENST00000267101.3	+	4	924	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	162					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACACAATTGACTGGAGGGA	0.502000													8	586					1.33987e-11	1.42324e-11	1	1	0
TEX14	56155	broad.mit.edu	37	17	56663333	56663333	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:56663333C>T	ENST00000389934.3	-	18	3016	c.2899G>A	c.(2899-2901)Gcc>Acc	p.A967T	TEX14_ENST00000349033.5_Missense_Mutation_p.A967T|TEX14_ENST00000240361.8_Missense_Mutation_p.A973T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	973						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGCAGGGCGTCGGGCTCA	0.507000													8	717					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517000													8	1119					0	0	1	0	0
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA					nuclear pore complex interacting protein family, member B11									p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577000													4	66					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													4	173					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885973	88885973	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:88885973C>T	ENST00000319675.3	-	1	323	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	76										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGCCAGTATGCGGTTAAATCG	0.542000													6	501					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:227659846T>G	ENST00000305123.4	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582000													8	122					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													6	80					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076887	57076887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:57076887C>T	ENST00000532437.1	-	5	3609	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1100	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAATGCTGCCTCTCGCTGG	0.607000													30	324					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36726453	36726453	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:36726453C>T	ENST00000280527.2	+	8	1831	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	488	Antistasin-like 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408000													56	456					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718503	46718503	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46718503G>A	ENST00000318962.4	-	17	1850	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALS2CL_ENST00000415953.1_Silent_p.G589G|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	589					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCACCCACGCCCAGCTGCC	0.677000													5	283					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810661	140810661	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	639	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)					gctgctgctgctgttgctgtt	0.587000													5	202					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709046	24709046	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:24709046G>T	ENST00000267415.7	-	9	1654	c.1313C>A	c.(1312-1314)cCt>cAt	p.P438H	TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	438					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGAAGAAACAGGTATGGCACC	0.458000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				38	265					2.05212e-20	2.18954e-20	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4511956	4511956	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:4511956G>A	ENST00000301286.3	-	3	1973	c.1974C>T	c.(1972-1974)acC>acT	p.T658T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	658	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACAGCACTGGTCACCCCAC	0.582000													61	539					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726819	32726819	+	Missense_Mutation	SNP	C	C	T	rs35275462		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726819C>T	ENST00000435145.2	-	3	515	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152T|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152T			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	152					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTGATCTGGGCTGGATAGAAA	0.562000													7	189					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					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	p.V201I(2)		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						TCCGTAAGAACTGTCTCAGGC	0.338000													6	330					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939864	12939864	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:12939864G>A	ENST00000218032.6	+	2	2792	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	902	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATGAGCTGCGCTACCACCTT	0.478000													67	310					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|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								5	141					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42764629	42764629	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:42764629C>A	ENST00000379274.2	+	16	2024	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.A668D|DGKH_ENST00000261491.4_Missense_Mutation_p.A668D|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000540693.1_Missense_Mutation_p.A668D			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	668					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGAGGAAGCTAAAGATGAT	0.373000													39	457					3.38236e-24	3.64137e-24	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													5	205					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161																											TGAAAGTGCAGTTTTTCTCTT	0.363000													4	176					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567237	136567237	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:136567237C>T	ENST00000264162.2	-	8	2690	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	894	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAATCTCTTTCGAACTTGGGT	0.517000													51	593					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41542773	41542773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:41542773G>A	ENST00000263253.7	+	11	3303	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	695					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTATGATCCGTGGCAGTGTG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				29	626					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667404	56667404	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:56667404T>G	ENST00000431842.2	-	11	3028	c.2104A>C	c.(2104-2106)Agt>Cgt	p.S702R	FAM208A_ENST00000355628.5_Missense_Mutation_p.S1078R|FAM208A_ENST00000493960.2_Missense_Mutation_p.S1139R	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1139										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAGGATCACTACACAGTGGC	0.433000													81	511					0	0	1	0	0
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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	1159					0	0	1	0	0
RAX2	84839	broad.mit.edu	37	19	3771573	3771573	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:3771573G>T	ENST00000555633.1	-	2	508	c.168C>A	c.(166-168)agC>agA	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTCACGGCTGTACACAT	0.627000													5	46					3.59834e-05	3.72295e-05	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39524367	39524367	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:39524367C>T	ENST00000537403.1	-	10	2235	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N|SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N|SEC23A_ENST00000307712.6_Missense_Mutation_p.D547N			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	547					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCTGTCTGTCCAGCCACCTA	0.418000													6	524					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													12	174					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613572	613572	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:613572C>T	ENST00000397566.1	-	7	1319	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000397574.2_Missense_Mutation_p.V291M|IRF7_ENST00000525445.1_Missense_Mutation_p.V185M	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGATGGTCACGTCCAGCGCC	0.682000													9	152					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													6	321					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314079	135314079	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:135314079G>A	ENST00000316077.9	-	8	1257	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	346						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACCACAGGCGACACGTCCAC	0.572000													134	146					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091179	31091179	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:31091179G>A	ENST00000394979.2	+	1	3957	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	ZNF646_ENST00000300850.5_Silent_p.K1178K			O15015	ZN646_HUMAN	zinc finger protein 646	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACTGTGAAGGGGGAGGAGA	0.602000													11	87					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175926	57175926	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:57175926C>T	ENST00000537055.2	-	2	872	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCACGCGCCGGTGCTG	0.721000													5	70					0	0	1	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085724	50085724	+	Missense_Mutation	SNP	C	C	G	rs1804401		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085724C>G	ENST00000298289.6	-	2	258	c.99G>C	c.(97-99)ttG>ttC	p.L33F		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTGGGCATACAAAGAATCCT	0.478000													7	588					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													5	365					0	0	1	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085742	50085742	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085742C>T	ENST00000298289.6	-	2	240	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	27					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGCCCTTCTTATACTGTG	0.488000													6	556					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94114845	94114845	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:94114845G>A	ENST00000515393.1	-	19	2579	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Silent_p.D639D	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	860					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTTCCTCGTCCTCTAGCA	0.423000													75	274					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741876	142741876	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:142741876G>A	ENST00000397933.2	+	12	1299	c.17G>A	c.(16-18)cGc>cAc	p.R6H	U2SURP_ENST00000473835.2_Silent_p.P400P|U2SURP_ENST00000493598.2_Silent_p.P399P			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	0					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTATGTTACCGCCACCTAAAA	0.408000													4	94					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													6	188					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026538	57026538	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:57026538G>A	ENST00000311923.1	-	1	3	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	2							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGGGCGAGGGCATCGCACTT	0.632000													6	97					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110880564	110880564	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:110880564C>G	ENST00000265171.5	+	6	1482	c.1037C>G	c.(1036-1038)gCc>gGc	p.A346G	EGF_ENST00000503392.1_Missense_Mutation_p.A346G|EGF_ENST00000509793.1_Intron	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAGGGATACGCCCTAAGTCGA	0.498000													67	271					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346967	29346967	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:29346967G>A	ENST00000558402.1	+	5	1479	c.880G>A	c.(880-882)Gga>Aga	p.G294R	APBA2_ENST00000558259.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000561069.1_Missense_Mutation_p.G294R|APBA2_ENST00000558330.1_Missense_Mutation_p.G294R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAGCACCCCGGAGACCCCCA	0.662000													9	154					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871882	57871882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:57871882G>A	ENST00000381227.1	+	10	1627	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	405					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCTTATTTAGAGGGTAAGGA	0.413000													42	276					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26534165	26534165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:26534165C>T	ENST00000333478.6	-	8	2416	c.1834G>A	c.(1834-1836)Gcc>Acc	p.A612T	GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T|GPR113_ENST00000311519.1_Missense_Mutation_p.A811T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	811					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGCAGGGCGGCGTGGCGG	0.622000													13	115					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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													5	641					0.014758	0.01482	1	1	0
TEKT4P2	0	broad.mit.edu	37	21	9907198	9907198	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:9907198C>T	ENST00000416067.1	-	0	1594					NR_037872.1|NR_038327.1																						GTGCAGAAAGCTAACGCACTG	0.592000													5	36					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95715409	95715409	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:95715409C>T	ENST00000309988.4	+	3	454	c.345C>T	c.(343-345)gaC>gaT	p.D115D	MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	115	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CGATGCAAGACGGCTTCACCT	0.647000													96	406					0	0	1	0	0
WHAMMP3	0	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	80					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	rs142715085	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCAGTCCTTGCGCAGCTGGAT	0.468000													41	332					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836181	73836181	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:73836181G>A	ENST00000207549.4	-	11	1248	c.869C>T	c.(868-870)tCg>tTg	p.S290L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	290	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCTGGCCGAAGTGGCTCT	0.667000									Familial Hemophagocytic Lymphohistiocytosis				8	79					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428000													6	829					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000													8	454					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233706	63233706	+	Missense_Mutation	SNP	G	G	A	rs80217781	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:63233706G>A	ENST00000540857.1	-	5	725	c.593C>T	c.(592-594)cCg>cTg	p.P198L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P208L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	208										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTGTCCACCGGCAAGGGCAG	0.512000													22	332					0	0	1	0	0
AC007276.5	0	broad.mit.edu	37	7	29727117	29727117	+	RNA	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:29727117T>A	ENST00000602980.1	+	0	935					NR_036482.1																						GTTGTTGATTTAAAAAAAAAT	0.249000													4	126					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138670646	138670646	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138670646G>A	ENST00000298480.5	+	23	2781	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I	KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V884I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	903						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGACCATCGTCAACGTGCA	0.637000													20	171					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52715017	52715017	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:52715017C>T	ENST00000293670.3	-	1	165	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	35	Head.				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)		CGGTAGGGGGCGGCGGTGATG	0.697000													27	244					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493000													25	179					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005850	101005850	+	Missense_Mutation	SNP	G	G	A	rs143611209	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:101005850G>A	ENST00000537247.1	+	6	1018	c.64G>A	c.(64-66)Gca>Aca	p.A22T	GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T|GAS2L3_ENST00000539410.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	126					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACAATACCGCAAACTTCCT	0.378000													5	647					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161643018	161643018	+	Splice_Site	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:161643018A>G	ENST00000367962.4	+	4	772	c.646_splice	c.e4+1	p.Q215_splice	RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000236937.9_Splice_Site_p.Q215_splice|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215_splice|FCGR2B_ENST00000428605.2_Splice_Site_p.Q215_splice|FCGR2B_ENST00000358671.5_Splice_Site_p.Q215_splice|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208_splice|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208_splice			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	215					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACTGTCCAAGGTATGCGGA	0.542000			T	?	ALL								22	144					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101216358	101216358	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:101216358G>A	ENST00000259455.2	-	7	1600	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	381					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R381W(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCTGGTGCCGGCTGCTGGCA	0.607000													32	201					0	0	1	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457676	15457676	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:15457676A>G	ENST00000360151.4	-	8	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		CGCTGAGGGTAGAGCTGAGGG	0.562000													11	815					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627224	37627224	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:37627224G>A	ENST00000447079.4	+	2	1172	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	380					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCACGCAGTCGTCATTCCAGT	0.443000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			6	349					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135523898	135523898	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:135523898G>A	ENST00000372159.3	-	10	1247	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	DDX31_ENST00000310532.2_Missense_Mutation_p.R366C|DDX31_ENST00000438527.3_Missense_Mutation_p.R237C|DDX31_ENST00000372153.1_Missense_Mutation_p.R366C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	366	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCCACCAGGCGTCCAGGAGTT	0.413000													11	644					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600211	92600211	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:92600211C>T	ENST00000298047.6	+	21	11980	c.11963C>T	c.(11962-11964)tCg>tTg	p.S3988L	FAT3_ENST00000533797.1_Missense_Mutation_p.S323L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L|FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3988	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S3988L(2)|p.S563L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCTGGACTCGGTGATACTG	0.617000										TCGA Ovarian(4;0.039)			7	39					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388000													24	259					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:102292797C>G	ENST00000561463.1	+	0	843																		p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000													4	188					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178609	65178609	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368000													6	334					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													6	271					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476539	42476539	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:42476539C>T	ENST00000434000.1	-	9	2954	c.2672G>A	c.(2671-2673)cGa>cAa	p.R891Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R969Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	969	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCGCTTGCTTCGACTACGACT	0.642000													27	327					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698985	150698985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:150698985G>A	ENST00000297494.3	+	13	1936	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOS3_ENST00000461406.1_Missense_Mutation_p.E321K|NOS3_ENST00000467517.1_Missense_Mutation_p.E527K|NOS3_ENST00000484524.1_Missense_Mutation_p.E527K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	527	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTATGGCTCCGAGACCGGCCG	0.652000													68	241					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84779219	84779219	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:84779219G>A	ENST00000219473.7	+	4	1245	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	USP10_ENST00000570191.1_Missense_Mutation_p.V382I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	378					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGAAAAGCAGGTTGAAGTCAA	0.468000													4	95					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447025	41447025	+	Silent	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:41447025C>A	ENST00000400454.1	-	27	5304	c.4827G>T	c.(4825-4827)ctG>ctT	p.L1609L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1609					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGCACAAACAGCAGCAAGA	0.592000													12	169					0.000978159	0.00099906	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174356	63174356	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:63174356C>T	ENST00000322893.7	-	11	3105	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	946	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGGGGTACGCTTTTTTCCGA	0.473000													93	997					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348000													7	291					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46621337	46621337	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46621337G>A	ENST00000296145.5	+	4	1065	c.332G>A	c.(331-333)cGc>cAc	p.R111H	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.R95H	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	111			R -> G (in dbSNP:rs34501971).		activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CACGATGTGCGCAAAGAGTAA	0.547000													7	366					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													13	85					4.16121e-05	4.28677e-05	1	1	0
PPCDC	60490	broad.mit.edu	37	15	75340906	75340906	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:75340906C>T	ENST00000342932.3	+	5	517	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W|PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	125					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						CTGCGTCATGCGGGCCTGGGA	0.662000													5	420					0	0	1	0	0
CCDC144CP	0	broad.mit.edu	37	17	20239305	20239305	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239305G>A	ENST00000340196.4	+	0	729																											GAGAAAAGATGGACACTGGGG	0.418000													10	600					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121116689	121116689	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:121116689C>T	ENST00000437515.1	-	0	329																											CTTTTCAGCACCAAGCCAAGT	0.403000													7	289					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905426	83905426	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:83905426C>A	ENST00000340417.3	-	2	949	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	191					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCTGGCCTCCCTCCAAT	0.478000													54	393					4.88482e-21	5.2353e-21	1	1	0
RBAK	57786	broad.mit.edu	37	7	5104238	5104238	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:5104238G>A	ENST00000396912.1	+	5	1670	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RBAK_ENST00000353796.3_Missense_Mutation_p.R384H|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	384					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCTTCTCCCGCAAGTCTGCT	0.463000													6	619					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458000													6	447					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186443035	186443035	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:186443035C>T	ENST00000265023.4	+	4	762	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	KNG1_ENST00000447445.1_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R184W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	184	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGAAGTAAAACGGGCCCAAAG	0.398000													80	358					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431019	37431019	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:37431019C>T	ENST00000374660.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTATGAGTCCCGCAAAAGAAA	0.433000													6	604					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:9887461A>C	ENST00000306084.6	+	2	1184	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	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						GGAGGGTGACATCCCCAAGTC	0.592000													5	519					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42503943	42503943	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:42503943C>T	ENST00000389834.4	-	20	1895	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	544						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGTGATCATTCGTTCCTAGGG	0.368000													65	923					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37571893	37571893	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:37571893C>T	ENST00000338415.3	+	1	177	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	7					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGAAGACACCGGCGCGTCGT	0.711000													5	53					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453978	58453978	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:58453978C>T	ENST00000598928.1	-	2	271	c.71G>A	c.(70-72)aGc>aAc	p.S24N	ZNF256_ENST00000282308.3_Silent_p.Q66Q			Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGTGCTCTGCTGATAAGGTG	0.532000													150	430					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406443	43406443	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:43406443C>T	ENST00000244533.3	+	6	2312	c.1953C>T	c.(1951-1953)acC>acT	p.T651T	ABCC10_ENST00000372530.4_Silent_p.T679T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	679	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTTGCCACCATCCGAGACA	0.592000													36	313					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs76467559	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328000													4	205					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677877	48677877	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:48677877G>A	ENST00000544264.1	-	35	9436	c.9156C>T	c.(9154-9156)taC>taT	p.Y3052Y	CELSR3_ENST00000164024.4_Silent_p.Y3047Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3047					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGCGACCGTAAGAGGCAG	0.647000													5	247					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													11	440					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													6	769					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488000													6	620					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119030980C>T	ENST00000307417.3	+	13	1845	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647000													88	318					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102330	44102330	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:44102330G>A	ENST00000272286.2	+	11	1624	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	512	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.G512W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCATCTACGGGATGCCCAC	0.562000													69	324					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582000													15	2936					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:111630550G>A	ENST00000369680.4	-	18	1754	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000502935.1_Silent_p.C545C	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498000													6	559					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	456					protein localization			p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383000													7	942					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537000													6	527					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119144654	119144654	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119144654G>C	ENST00000264033.4	+	4	1043	c.667G>C	c.(667-669)Gct>Cct	p.A223P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	223	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAGGCCATGGCTCTGAAATC	0.473000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				34	297					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360626	145360626	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:145360626C>T	ENST00000342960.5	+	74	9286	c.9251C>T	c.(9250-9252)aCt>aTt	p.T3084I	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3084										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)		TGTTATTCGACTCCTTCAGGT	0.468000													4	68					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398000													40	379					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587000													5	553					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													5	86					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52747411	52747411	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:52747411A>C	ENST00000287727.3	+	10	3120	c.2948A>C	c.(2947-2949)cAg>cCg	p.Q983P	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q983P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	983					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTCTACAGTGTTTACCG	0.418000													6	590					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296718	9296718	+	Silent	SNP	C	C	T	rs139213903		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:9296718C>T	ENST00000344248.2	+	1	440	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	87					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACATCCAGACCGAGAACAAAG	0.507000													5	511					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							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)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			9	1099					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438000													5	604					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464376	247464376	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:247464376C>A	ENST00000294753.4	-	9	1673	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	403					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTAGGACTTCTTGGAGGTCT	0.642000													10	265					0.000442599	0.000453997	1	1	0
CCDC144CP	0	broad.mit.edu	37	17	20239291	20239291	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:20239291G>A	ENST00000340196.4	+	0	715																											GAACTTAACAGAACGAGAAAA	0.418000													6	546					0	0	1	0	0
PUSL1	126789	broad.mit.edu	37	1	1244928	1244928	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:1244928C>T	ENST00000379031.5	+	4	495	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	140					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCTGTCACCGGCGTGATGA	0.687000													13	78					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	488					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525004	112525004	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:112525004G>A	ENST00000369697.1	-	1	414	c.345C>T	c.(343-345)gaC>gaT	p.D115D	KCND3_ENST00000302127.4_Silent_p.D115D|KCND3_ENST00000315987.2_Silent_p.D115D			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	115						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCAGCTCGTCGTCGTAGGCAG	0.627000													30	269					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681954	36681954	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36681954G>A	ENST00000216181.5	-	36	5337	c.5107C>T	c.(5107-5109)Cgg>Tgg	p.R1703W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					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						AGCTCATCCCGCTCCTGCTGG	0.652000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	218					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1791840	1791840	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:1791840G>A	ENST00000539485.1	-	20	2474	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ATP8B3_ENST00000310127.6_Silent_p.I737I|ATP8B3_ENST00000525591.1_Silent_p.I700I			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GTCTGTCCTCGATGGCTGTGG	0.627000													4	193					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275125	114275125	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:114275125G>A	ENST00000357077.4	+	38	5404	c.5351G>A	c.(5350-5352)cGa>cAa	p.R1784Q	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1751	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAAGGTCGAAGCAAGTTG	0.498000													93	702					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	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	p.K140E(2)|p.K73E(2)		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						GTCCTCAGAAAAAGCCATCCA	0.547000													5	679					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2702034	2702034	+	Missense_Mutation	SNP	G	G	A	rs139214563	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:2702034G>A	ENST00000324666.5	+	17	3613	c.3262G>A	c.(3262-3264)Gac>Aac	p.D1088N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1088										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGGTGGTCGACCTCATGTC	0.542000													12	110					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													7	545					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGCTGGTCATGCCCTGGAAGG	0.637000													5	219					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													4	169					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43384834	43384834	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:43384834G>A	ENST00000372851.3	-	6	817	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	251					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GATGCCTGCCGGAGCAGGGGG	0.662000													96	310					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161700	1161700	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:1161700C>T	ENST00000381894.3	-	2	1234	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	188						integral to membrane	protein binding										CAAGAGCATGCCGCCCACCGT	0.657000													5	350					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009335	204009335	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:204009335G>A	ENST00000449802.1	+	31	5107	c.4774G>A	c.(4774-4776)Gca>Aca	p.A1592T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1592							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGTGCAATGGCATCAGCTAA	0.403000													5	417					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597180	36597180	+	Missense_Mutation	SNP	C	C	T	rs121918572		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:36597180C>T	ENST00000299440.5	+	2	2438	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	776					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483000									Familial Hemophagocytic Lymphohistiocytosis				42	380					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307700	222307700	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:222307700T>G	ENST00000281821.2	-	11	1964	c.1923A>C	c.(1921-1923)aaA>aaC	p.K641N	EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N|EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	641	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCAGGCACTTTGAGACGCC	0.448000													34	476					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011686	138011686	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138011686G>A	ENST00000252854.4	+	6	1253	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	OLFM1_ENST00000371793.3_Missense_Mutation_p.A374T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	374	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACCAGAACGCTGGCAACAT	0.627000													21	125					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|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								6	158					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	48					9.04412e-07	9.48046e-07	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3674202	3674202	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:3674202T>C	ENST00000344754.4	-	13	3399	c.3400A>G	c.(3400-3402)Atc>Gtc	p.I1134V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGGGGATGGAGTGGGCA	0.657000													11	117					0	0	1	0	0
EMC10	284361	broad.mit.edu	37	19	50983419	50983419	+	Missense_Mutation	SNP	G	G	A	rs140693786	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:50983419G>A	ENST00000376918.3	+	4	395	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.G117R|EMC10_ENST00000598585.1_Missense_Mutation_p.G117R	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		AAGGCGACCCGGGGCCCTGGA	0.637000													9	84					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543566	141543566	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:141543566C>A	ENST00000442267.2	-	21	3658	c.3584G>T	c.(3583-3585)gGc>gTc	p.G1195V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1195						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCGCCGTGCCCTGGCCGCT	0.662000													9	88					2.17888e-05	2.26414e-05	1	1	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													6	797					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607000													45	587					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122258	36122258	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36122258C>T	ENST00000249044.2	+	3	143	c.142_splice	c.e3-1	p.P48_splice		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGTCTTTAGCCTCACTCGTG	0.443000													24	240					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													6	458					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188321	121188321	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:121188321G>A	ENST00000321339.1	+	1	672	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	221					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGGGGCCCCGGATGCTGGCC	0.502000													8	650					0	0	1	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085694	50085694	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085694C>T	ENST00000298289.6	-	2	288	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	43					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CACTCTGCTTCCGATCATAGC	0.483000													10	732					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709902	67709902	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:67709902C>T	ENST00000268797.7	-	3	659	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	105						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTCACCATCCGGAAGGCATC	0.537000													11	112					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9192301	9192301	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9192301C>T	ENST00000328194.3	-	9	2250	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	DENND5A_ENST00000527700.1_5'UTR|DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	644										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTTTGCCAGACGCAGC	0.413000													7	764					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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)			66	168					9.31514e-26	1.00738e-25	1	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													9	410					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743445	102743445	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:102743445G>A	ENST00000210633.3	+	14	2167	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A692T|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	692					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTCATCCTGGCCTCCTCCCT	0.642000													13	66					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113461	59113461	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:59113461C>T	ENST00000395153.3	+	4	2156	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	DACT1_ENST00000541264.2_Missense_Mutation_p.A426V|DACT1_ENST00000395151.3_Missense_Mutation_p.A426V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V|DACT1_ENST00000335867.4_Missense_Mutation_p.A707V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGTACCCCGCGCCTGTGCCT	0.677000													13	229					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56082681	56082681	+	Missense_Mutation	SNP	G	G	A	rs17857368		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56082681G>A	ENST00000257880.7	-	23	3256	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1013C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C			Q13683	ITA7_HUMAN	integrin, alpha 7	1013					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCGCGCGGTCAAAGCTG	0.587000													12	284					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115417138	115417138	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:115417138C>T	ENST00000369522.3	+	9	850	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	204					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAATATGAACGGGAAGAAAC	0.264000													59	671					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Silent	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:136590607A>G	ENST00000531224.1	-	9	2439	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000527536.1_Silent_p.D729D|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363000													7	321					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128374	141128374	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:141128374C>T	ENST00000389484.3	-	71	11884	c.10913G>A	c.(10912-10914)cGg>cAg	p.R3638Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29.				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)		ATTTTTGCACCGAAACTGATC	0.388000										TSP Lung(27;0.18)			39	590					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380401	56380401	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:56380401C>T	ENST00000526538.1	-	1	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTTGACACGGGTGTCAGA	0.433000													61	230					0	0	1	0	0
HDHD1	8226	broad.mit.edu	37	X	7023672	7023672	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:7023672G>A	ENST00000381077.5	-	2	345	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HDHD1_ENST00000424830.2_Missense_Mutation_p.A113V|HDHD1_ENST00000540122.1_Missense_Mutation_p.A90V|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	90					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						TGGCATGAGCGCAGCCGTGGG	0.488000													3	62					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:1265999T>C	ENST00000447027.1	+	31	7956	c.7898T>C	c.(7897-7899)cTt>cCt	p.L2633P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637000													6	429					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5654163	5654163	+	Missense_Mutation	SNP	G	G	A	rs11542075		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:5654163G>A	ENST00000292123.5	+	12	1725	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SAFB_ENST00000592224.1_Missense_Mutation_p.D540N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	540	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAAGGACCAAGATGATCAGAA	0.463000													31	286					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112337346	112337346	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:112337346G>A	ENST00000389063.2	+	7	979	c.781G>A	c.(781-783)Gct>Act	p.A261T	DCP2_ENST00000543319.1_Missense_Mutation_p.A50T|DCP2_ENST00000515408.1_Missense_Mutation_p.A261T	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAGCACGCCGGCTAAACCCAC	0.373000													7	774					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132559896	132559896	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:132559896A>G	ENST00000265342.7	-	11	1574	c.1325T>C	c.(1324-1326)cTg>cCg	p.L442P	CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_Intron|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	442						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGCCACAGGATGTTTGC	0.483000													10	128					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76379654	76379654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:76379654G>A	ENST00000357063.3	+	10	2370	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Nonsense_Mutation_p.W85*|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*			Q8WWI1	LMO7_HUMAN	LIM domain 7	370						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAGAACTGGCCAACTGTAC	0.408000													5	422					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239037368	239037368	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:239037368G>A	ENST00000343063.3	+	8	1499	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	ESPNL_ENST00000409506.1_Silent_p.A44A|ESPNL_ENST00000409169.1_Silent_p.A368A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	412										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGCGCTGGCGGGGGACACCT	0.701000													9	41					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507000													9	1708					0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58555463	58555463	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:58555463C>T	ENST00000394481.1	-	3	683	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	42					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGTGACTCCGAGAGGCCTT	0.632000													28	292					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35218362	35218362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:35218362C>A	ENST00000428726.2	+	6	860	c.737C>A	c.(736-738)tCa>tAa	p.S246*	CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	246	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GATTGGTTTTCATGGTTGTTT	0.383000													5	274					0.014758	0.01482	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30236753	30236753	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:30236753G>A	ENST00000378988.4	+	2	157	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGCAAGGCCCGAGATGAGACC	0.552000													4	64					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318681	81318681	+	Missense_Mutation	SNP	G	G	A	rs150273659	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:81318681G>A	ENST00000372325.2	-	4	337	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R85C	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	85	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TTCTCTCCACGCTCTCCAGGG	0.627000									Pulmonary Fibrosis, Idiopathic				9	697					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074778	237074778	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:237074778C>T	ENST00000306318.4	-	2	1223	c.826G>A	c.(826-828)Gag>Aag	p.E276K	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCGAGCGCTCGGTCAAGGAG	0.602000													10	507					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7032156	7032156	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:7032156T>C	ENST00000389658.3	-	16	2276	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	728	Laminin EGF-like 5; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCACGCGGTAATAGCCAGA	0.478000													10	144					0	0	1	0	0
CT45A4	441520	broad.mit.edu	37	X	134932820	134932820	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:134932820G>T	ENST00000434966.2	-	2	408	c.164C>A	c.(163-165)gCa>gAa	p.A55E	CT45A4_ENST00000494421.1_Missense_Mutation_p.A55E|CT45A4_ENST00000420087.2_Intron	NM_001017436.1	NP_001017436.1	Q8N7B7	CT454_HUMAN	cancer/testis antigen family 45, member A4	55																	CTTACTCTTTGCTTTGGACAT	0.507000													5	488					0.00116845	0.00118833	1	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122923840	122923840	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:122923840G>A	ENST00000395412.1	+	7	1471	c.752G>A	c.(751-753)gGc>gAc	p.G251D	CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	251	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCTTGGCAAGGCTTAAAGGTA	0.284000													42	374					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66410199	66410199	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:66410199C>T	ENST00000341567.4	+	3	651	c.396C>T	c.(394-396)aaC>aaT	p.N132N		NM_017994.4	NP_060464.1			transmembrane protein 248																		ATTCCCGCAACGTCACCCATC	0.547000													26	494					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526988	23526988	+	Silent	SNP	T	T	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:23526988T>A	ENST00000296682.3	+	11	1973	c.1791T>A	c.(1789-1791)acT>acA	p.T597T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	597					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.592000										HNSCC(3;0.000094)			5	380					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968220	114968220	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:114968220G>T	ENST00000358465.2	-	9	1629	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I|TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	516					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCTGGAGTCGAAGCTGT	0.458000			T	RET	papillary thyroid								106	926					2.33925e-33	2.55288e-33	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													5	194					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165019	26165019	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26165019G>A	ENST00000335473.7	+	4	1386	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R379Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGTGAGCTTCGGAGCACGACT	0.577000													11	70					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577000													30	269					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726818	32726818	+	Missense_Mutation	SNP	G	G	C	rs34554556		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32726818G>C	ENST00000435145.2	-	3	516	c.455C>G	c.(454-456)gCc>gGc	p.A152G	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152G|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152G			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	152					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTTGATCTGGGCTGGATAGAA	0.567000													6	190					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563724	20563724	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:20563724G>T	ENST00000202677.6	-	20	2819	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	893					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGACTCAGTTGTAACCAA	0.468000													7	251					5.4927e-09	5.78307e-09	1	1	0
CBLB	868	broad.mit.edu	37	3	105456084	105456084	+	Silent	SNP	C	C	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:105456084C>T	ENST00000264122.4	-	8	1323	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G|CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	334	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TATAACTCCTCCCATCAGGAT	0.264000			Mis S		AML								39	775					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1406022	1406022	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:1406022G>A	ENST00000381312.1	-	3	603	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	93					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cgcgccgggcgcgccgccccg	0.726000													13	38					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													7	256					0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39492431	39492431	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:39492431G>A	ENST00000328264.3	-	2	304	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	67										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						tccagaatccgtaggagaagc	0.363000													11	295					0	0	1	0	0
FAM66D	0	broad.mit.edu	37	8	11986707	11986707	+	RNA	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:11986707G>A	ENST00000434078.2	+	0	608					NR_027425.1																						AGAGAAGTCCGCTGGATTTCA	0.517000													39	282					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33373763	33373763	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:33373763G>A	ENST00000303296.4	+	16	3428	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	HIPK3_ENST00000456517.1_Silent_p.Q1020Q|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000379016.3_Silent_p.Q1020Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1041					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTACTCGTCAGCAAAAATTGA	0.413000													7	936					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127241	152127241	+	Silent	SNP	G	G	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152127241G>A	ENST00000316073.3	-	3	2398	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	778	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						GGTTCTGCTCGTCTTCATGGG	0.463000													345	1445					0	0	1	0	0
SPATA1	100505741	broad.mit.edu	37	1	84988200	84988201	+	RNA	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:84988200_84988201insT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GGTAAGTTTTCTTTTTTTTTCT	0.327													7	276	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.4	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)cgg>c	p.LALR31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													9	26	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													15	189	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													8	371	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								8	677	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155887381	155887382	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:155887381_155887382insG	ENST00000368320.3	-	11	1373_1374	c.1348_1349insC	c.(1348-1350)gccfs	p.A450fs	KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.A450fs			Q7Z7F0	K0907_HUMAN	KIAA0907	450	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)			GAGTGggggctggggctggggc	0.564													10	280	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215747171	215747171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:215747171delT	ENST00000259154.4	+	2	420	c.126delT	c.(124-126)tcfs	p.S42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCCAGATTCTTTTTTTTCCA	0.229													8	1048	---	---	---	---					
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)atfs	p.N1003fs	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353													12	438	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													15	211	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													10	496	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													7	248	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:107041534delA	ENST00000409886.3	-	20	2976	c.2889delT	c.(2887-2889)ttfs	p.F963fs	RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													7	2277	---	---	---	---					
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGATGAGGCGAAAAAAAAGGA	0.388													9	956	---	---	---	---					
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323													9	519	---	---	---	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.103_splice	c.e1+1	p.ED34_splice	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	229	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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													13	1472	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													10	499	---	---	---	---					
SLC35G2	80723	broad.mit.edu	37	3	136573585	136573586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:136573585_136573586insA	ENST00000446465.2	+	2	911_912	c.283_284insA	c.(283-285)aaafs	p.K95fs	SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.K95fs|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	95						Golgi apparatus|integral to membrane											GAGCTTTGCAGAAAAAAACATT	0.416													52	565	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													10	134	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													11	1406	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195395356	195395357	+	RNA	DEL	TG	TG	-	rs113879828		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:195395356_195395357delTG	ENST00000445430.1	+	0	796																											CGTGGGCCACTGTGTGCAGTCA	0.604													7	220	---	---	---	---					
SLC34A2	10568	broad.mit.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgc>c	p.RC617del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	617	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.640			T	ROS1	NSCLC								7	228	---	---	---	---					
HMGCR	3156	broad.mit.edu	37	5	74650940	74650941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:74650940_74650941insG	ENST00000287936.4	+	13	1779_1780	c.1623_1624insG	c.(1621-1626)gcgaccfs	p.T542fs	HMGCR_ENST00000343975.5_Intron|HMGCR_ENST00000511206.1_Frame_Shift_Ins_p.T542fs	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	542	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGGAGTGGCAGGACCCCTTTG	0.436													7	509	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)					8	801	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													8	186	---	---	---	---					
PCDHA9	0	broad.mit.edu	37	5	140230590	140230590	+	Frame_Shift_Del	DEL	T	T	-	rs17844337		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:140230590delT	ENST00000378122.3	+	1	3234	c.2510delT	c.(2509-2511)atfs	p.I837fs	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_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)			ATCCAGCAGATTTTTTTTCTG	0.279													10	1631	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1																						TGAAAATAGGATTGGGAGAGTA	0.475													9	236	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													7	84	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8198250	8198251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:8198250_8198251insT	ENST00000402384.3	-	7	877_878	c.611_612insA	c.(610-612)attfs	p.I204fs	ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs			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	450	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													8	600	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	346	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													9	455	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:22021060_22021061delGT	ENST00000522109.1	+	4	460_461	c.436_437delGT	c.(436-438)gfs	p.V146fs	SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site			P11686	PSPC_HUMAN	surfactant protein C	146	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAACTTCCAGGTGTGTGTGTGT	0.545													11	170	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													18	544	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													7	841	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													7	713	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383													8	36	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													7	286	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|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													7	451	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64952698	64952699	+	Splice_Site	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:64952698_64952699insT	ENST00000399262.2	-	16	6293_6294	c.6076_splice	c.e16+1	p.KK2025_splice	JMJD1C_ENST00000402544.1_Splice_Site_p.KK1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.KK1843_splice|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTATGTTTACCTTTTTTTTCCT	0.371													7	401	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													17	397	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													8	594	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													11	712	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													7	1617	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													20	590	---	---	---	---					
TMEM41B	440026	broad.mit.edu	37	11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)ttttggfs	p.W231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAAGTACCAATAAAAAAAACTT	0.361													7	716	---	---	---	---					
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:32635951delT	ENST00000335185.5	-	16	1956	c.1913delA	c.(1912-1914)atfs	p.N638fs		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	638								p.N638fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313													7	359	---	---	---	---					
HNRNPKP3	0	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													8	27	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:47359101_47359103delTCT	ENST00000545968.1	-	25	2495_2497	c.2441_2443delAGA	c.(2440-2445)agc>a	p.KS814del	MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000399249.2_In_Frame_Del_p.KS814del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													10	375	---	---	---	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177170	67177171	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:67177170_67177171insG	ENST00000312390.5	+	10	1315_1316	c.1286_1287insG	c.(1285-1287)gggfs	p.G429fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G429fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	429	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCCCCATCGAGGGGCCCCCCA	0.683													12	124	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:118344186delC	ENST00000534358.1	+	3	2335	c.2312delC	c.(2311-2313)acfs	p.T771fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T771fs|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCACCTCTCACCCCCCCGTCT	0.453													8	1116	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				10	327	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:6711546delT	ENST00000309577.6	-	3	381	c.218delA	c.(217-219)agfs	p.K73fs	CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													7	1404	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)del	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGCTATCAAGGAAGAAGAAGAAG	0.478													7	507	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													11	621	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													11	436	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:23912864delT	ENST00000382298.3	-	10	5739	c.5151delA	c.(5149-5151)aafs	p.K1717fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1717					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358													7	327	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	360	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													10	930	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:45642288_45642289delCT	ENST00000267430.5	+	13	2276_2277	c.2191_2192delCT	c.(2191-2193)cfs	p.L731fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	476	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58831996	58831997	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:58831996_58831997delAG	ENST00000355431.3	+	20	3562_3563	c.3189_3190delAG	c.(3187-3192)caagfs	p.QE1063fs	ARID4A_ENST00000395168.3_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000431317.2_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.QE1063fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1063					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAATTGTACAAGAGAGAGAGAG	0.381													7	493	---	---	---	---					
IGHV3-11	0	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341																											ATATGGTACTACCACTACTACTA	0.522													17	1832	---	---	---	---					
GOLGA8DP	0	broad.mit.edu	37	15	22709286	22709288	+	RNA	DEL	AAG	AAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:22709286_22709288delAAG	ENST00000314246.8	-	0	1157																											CCAaaaaaaaaagaaaagaaaag	0.517													14	253	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25324325	25324325	+	RNA	DEL	T	T	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:25324325delT	ENST00000549804.2	+	0	1377																											ACAACTGTCATTTTTTTTGAT	0.478													7	413	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGTGTGGGCAGGGGGGGTGCC	0.557													8	1144	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													7	984	---	---	---	---					
USP8	9101	broad.mit.edu	37	15	50741645	50741645	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:50741645delG	ENST00000433963.1	+	5	798	c.298delG	c.(298-300)aafs	p.E101fs	USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Frame_Shift_Del_p.E101fs|USP8_ENST00000396444.3_Frame_Shift_Del_p.E101fs	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	101	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAAAGCTGTCGAAGAAGCTGA	0.289													41	388	---	---	---	---					
TMOD3	29766	broad.mit.edu	37	15	52161562	52161562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:52161562delA	ENST00000308580.7	+	3	556	c.275delA	c.(274-276)gafs	p.E92fs	TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	92						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACACTGGAGAAAAAAAAGGT	0.388													10	648	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2191-2196)gaaaaafs	p.EK731fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		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						AAAAGAAAGACAAAAAAAAGAA	0.490													7	1088	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74836290	74836292	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:74836290_74836292delCAG	ENST00000346246.5	+	2	244_246	c.13_15delCAG	c.(13-15)del	p.Q15del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	15	Gln-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						GGAGCCACTTcagcagcagcagc	0.562													9	133	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													8	42	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													11	1184	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													11	423	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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													7	465	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7193599delG	ENST00000007699.5	-	5	778	c.715delC	c.(715-717)ggfs	p.R239fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													8	1078	---	---	---	---					
CCDC144B	0	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													11	17	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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													8	287	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65905759	65905759	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:65905759delA	ENST00000321892.4	+	12	3313	c.3252delA	c.(3250-3252)ccfs	p.P1084fs	BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1084					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)			CACGAAGTCCAAAAAAAATAA	0.308													7	316	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													7	624	---	---	---	---					
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-	rs143162930		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)agfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	109						integral to membrane		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433													9	946	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaaggafs	p.G305fs		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455													7	394	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421													13	423	---	---	---	---					
NUDT19	390916	broad.mit.edu	37	19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctfs	p.AS271fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	271						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.450													8	1994	---	---	---	---					
FXYD1	5348	broad.mit.edu	37	19	35631514	35631515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:35631514_35631515insC	ENST00000588081.1	+	2	133_134	c.75_76insC	c.(73-78)gaacgafs	p.ER25fs	FXYD1_ENST00000589209.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588715.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000455515.2_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000588607.1_Frame_Shift_Ins_p.ER25fs|FXYD1_ENST00000351325.4_Frame_Shift_Ins_p.ER25fs|LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	25					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCCAAAGGAACACGACCCGTT	0.584													7	827	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													7	105	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaa>ga	p.EE1359del	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													17	363	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													10	606	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													11	581	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	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													10	340	---	---	---	---					
TAF4	6874	broad.mit.edu	37	20	60587922	60587923	+	Frame_Shift_Ins	INS	-	-	GCCT			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:60587922_60587923insGCCT	ENST00000252996.3	-	3	1588_1589	c.1589_1590insAGGC	c.(1588-1590)gcafs	p.-529fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCGTTGTCTGGGCCTGAGACAC	0.589													81	500	---	---	---	---					
LINC00478	0	broad.mit.edu	37	21	17443416	17443417	+	RNA	DEL	TG	TG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431													9	605	---	---	---	---					
U2AF1	7307	broad.mit.edu	37	21	44513281	44513282	+	In_Frame_Ins	INS	-	-	CCG	rs144595259		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:44513281_44513282insCCG	ENST00000459639.1	-	7	1458_1459	c.434_435insCGG	c.(433-435)ggg>gCGGgg	p.144_145insA	U2AF1_ENST00000398137.1_In_Frame_Ins_p.144_145insA|U2AF1_ENST00000291552.4_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000380276.2_In_Frame_Ins_p.217_218insA			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cgccacctccaccaccgccacc	0.574			Mis		"""CLL, MDS"""								8	213	---	---	---	---					
TFIP11	24144	broad.mit.edu	37	22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-	rs145794160	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gac>ga	p.DD18del	TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCCCGCTCGTCATCATCATCAT	0.532													8	466	---	---	---	---					
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299													11	252	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													7	162	---	---	---	---