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
ACSM2A	123876	broad.mit.edu	37	16	20482434	20482434	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:20482434C>T	ENST00000536134.1	+	5	748		c.e5+2		ACSM2A_ENST00000573854.1_Silent_p.S212S|ACSM2A_ENST00000575690.1_Silent_p.S212S|ACSM2A_ENST00000219054.6_Silent_p.S212S|ACSM2A_ENST00000417235.2_Silent_p.S133S|ACSM2A_ENST00000396104.2_Silent_p.S212S|ACSM2A_ENST00000575558.1_3'UTR			Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGACTGGAAGCCAGGAAGCAT	0.502000													12	31					0	0	0.000151284	0	0
SPAG17	200162	broad.mit.edu	37	1	118598501	118598501	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:118598501A>G	ENST00000336338.5	-	19	2642	c.2577T>C	c.(2575-2577)gaT>gaC	p.D859D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	859						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGTAATCCAATCTTGAATAG	0.323000													9	22					0	0	6.40141e-05	0	0
ASIC3	9311	broad.mit.edu	37	7	150747316	150747316	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:150747316G>A	ENST00000357922.4	+	2	1252	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	ASIC3_ENST00000297512.8_Missense_Mutation_p.E220K|ASIC3_ENST00000349064.5_Missense_Mutation_p.E220K	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	220					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GCAGCAGGAGGAATATCTACC	0.572000													14	26					0	0	2.31682e-05	0	0
KIAA0368	23392	broad.mit.edu	37	9	114246684	114246684	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:114246684G>C	ENST00000259335.4	-	2	228	c.229C>G	c.(229-231)Cga>Gga	p.R77G		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGCCGGGCTCGGAGTCGGCGG	0.697000													11	9					0	0	0.00010058	0	0
REEP5	7905	broad.mit.edu	37	5	112214496	112214496	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:112214496T>C	ENST00000379638.4	-	5	905	c.557A>G	c.(556-558)aAg>aGg	p.K186R	REEP5_ENST00000545426.1_3'UTR|CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron|REEP5_ENST00000513339.1_3'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	186						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GGTGCTCTTCTTTTCTTCACC	0.398000													37	13					0	0	8.96297e-05	0	0
CFHR5	81494	broad.mit.edu	37	1	196977801	196977801	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:196977801T>C	ENST00000367414.5	+	10	1826	c.1770T>C	c.(1768-1770)ccT>ccC	p.P590P	CFHR5_ENST00000256785.4_Silent_p.P566P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	566					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGAATATCCTATATGTGAAT	0.363000													19	24					0	0	0.000175454	0	0
ASIC2	40	broad.mit.edu	37	17	32483164	32483164	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:32483164C>A	ENST00000359872.6	-	1	1149	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	130					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACGGAGGGGTCAGCCAGATGG	0.612000													27	42					3.28513e-13	1.33552e-11	7.16444e-05	1	0
NRD1	4898	broad.mit.edu	37	1	52344114	52344114	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:52344114A>G	ENST00000354831.7	-	1	363	c.174T>C	c.(172-174)tcT>tcC	p.S58S	NRD1_ENST00000352171.7_Silent_p.S58S|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	58					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCTGCAGGTAGACTTCGCCT	0.612000													16	24					0	0	3.45872e-05	0	0
NELFE	7936	broad.mit.edu	37	6	31922639	31922639	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:31922639T>A	ENST00000375429.3	-	7	661	c.435A>T	c.(433-435)gaA>gaT	p.E145D	NELFE_ENST00000375425.5_Missense_Mutation_p.E152D|NELFE_ENST00000444811.2_Intron	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		CTGGTCCTAGTTCTCGAAGTC	0.552000													32	90					0	0	0.000191422	0	0
CENPF	1063	broad.mit.edu	37	1	214819583	214819583	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:214819583G>A	ENST00000366955.3	+	13	6838	c.6670G>A	c.(6670-6672)Ggt>Agt	p.G2224S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2320	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAAAACAAGGTCAGTTGTC	0.348000													16	47					0	0	2.31682e-05	0	0
CPNE9	151835	broad.mit.edu	37	3	9757716	9757716	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:9757716G>A	ENST00000383832.3	+	14	1071	c.881G>A	c.(880-882)gGa>gAa	p.G294E	CPNE9_ENST00000383831.3_Missense_Mutation_p.G294E	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	294										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TACATCAAGGGAGGGTGAGTC	0.507000											OREG0015381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	3.59834e-05	0	0
GPNMB	10457	broad.mit.edu	37	7	23313746	23313746	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:23313746T>G	ENST00000258733.4	+	11	1881	c.1586T>G	c.(1585-1587)cTg>cGg	p.L529R	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000381990.2_Missense_Mutation_p.L541R|GPNMB_ENST00000539136.1_Missense_Mutation_p.L430R|GPNMB_ENST00000453162.2_Missense_Mutation_p.L483R			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	541					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGCAAAGGCCTGAGTGTCTTT	0.388000													23	43					0	0	5.49717e-05	0	0
PANK3	79646	broad.mit.edu	37	5	167988434	167988434	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:167988434G>A	ENST00000239231.6	-	5	1216	c.900C>T	c.(898-900)aaC>aaT	p.N300N	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	300					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAGAACCAATGTTATTGGTGA	0.338000													8	7					0	0	0.000157383	0	0
CXXC11	285093	broad.mit.edu	37	2	242813898	242813898	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:242813898A>T	ENST00000343216.3	+	2	219	c.191A>T	c.(190-192)gAc>gTc	p.D64V		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	64						integral to membrane											GGGACCTGGGACTCGGCCCAT	0.677000													4	14					0	0	1.23904e-05	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700994	172700994	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:172700994T>A	ENST00000422440.2	-	5	387	c.350A>T	c.(349-351)cAg>cTg	p.Q117L	SLC25A12_ENST00000392592.4_Missense_Mutation_p.Q10L|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	117	EF-hand 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AATAATAGTCTGTCCAAAAAT	0.318000													14	21					0	0	2.31682e-05	0	0
SMCHD1	23347	broad.mit.edu	37	18	2760732	2760732	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:2760732G>C	ENST00000320876.6	+	35	4767	c.4429G>C	c.(4429-4431)Gaa>Caa	p.E1477Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1477Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1477					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTCAACAGTGAACAGGTTTG	0.294000													5	14					0	0	3.59834e-05	0	0
ARID2	196528	broad.mit.edu	37	12	46244254	46244254	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:46244254T>A	ENST00000334344.6	+	15	2520	c.2348T>A	c.(2347-2349)aTc>aAc	p.I783N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.I393N|ARID2_ENST00000422737.1_Missense_Mutation_p.I634N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	783					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGGACAGATCCCTTCAGGC	0.453000			"""N, S, F"""		hepatocellular carcinoma								11	22					0	0	3.86212e-05	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531675	190531675	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:190531675T>C	ENST00000260952.4	+	4	1230	c.817T>C	c.(817-819)Ttt>Ctt	p.F273L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	273					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ACTTCAAGTCTTTCTTACTGA	0.393000													49	76					0	0	0.000147903	0	0
MPZL3	196264	broad.mit.edu	37	11	118107879	118107879	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:118107879T>C	ENST00000278949.4	-	3	392	c.337A>G	c.(337-339)Ata>Gta	p.I113V	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.I101V			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	113	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTATACTTATAGATGCATCC	0.428000													22	94					0	0	5.49717e-05	0	0
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682000													14	64					0	0	0.000151284	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597506	55597506	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:55597506G>A	ENST00000201647.6	+	16	1652	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	EPS8L1_ENST00000588359.1_Silent_p.L218L|EPS8L1_ENST00000245618.5_Silent_p.L405L|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Silent_p.L468L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	532	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACAACATCCTGACACCCTACC	0.632000													28	42					0	0	0.000184323	0	0
UGDH	7358	broad.mit.edu	37	4	39507353	39507353	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:39507353C>A	ENST00000316423.6	-	8	1264	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	UGDH_ENST00000501493.2_Missense_Mutation_p.D241Y|UGDH_ENST00000507089.1_Missense_Mutation_p.D211Y|UGDH_ENST00000506179.1_Missense_Mutation_p.D308Y	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	308					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTCTGGTAGTCATTCATGTCT	0.368000													18	54					1.78486e-19	7.45091e-18	9.7654e-05	1	0
PRPF3	9129	broad.mit.edu	37	1	150300915	150300915	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:150300915C>T	ENST00000324862.6	+	4	578	c.413C>T	c.(412-414)aCt>aTt	p.T138I	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Missense_Mutation_p.T3I|PRPF3_ENST00000414970.2_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	138					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGCATGCTGACTAAGCTCCAG	0.468000													37	53					0	0	0.000191422	0	0
HSPA5	3309	broad.mit.edu	37	9	127998871	127998871	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:127998871C>T	ENST00000324460.6	-	8	2168	c.1965G>A	c.(1963-1965)taG>taA	p.*655*		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	0					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGATCAGTGTCTACAACTCAT	0.383000										Prostate(1;0.17)			13	26					0	0	0.000219431	0	0
LDB3	11155	broad.mit.edu	37	10	88477848	88477848	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:88477848T>A	ENST00000429277.2	+	11	1964	c.1819T>A	c.(1819-1821)Tat>Aat	p.Y607N	LDB3_ENST00000352360.5_Missense_Mutation_p.Y345N|LDB3_ENST00000361373.4_Missense_Mutation_p.Y602N|LDB3_ENST00000458213.2_Missense_Mutation_p.Y492N|LDB3_ENST00000263066.6_Missense_Mutation_p.Y492N	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	602	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGAGCGATGTTATGAGCAATT	0.512000													26	54					0	0	7.16444e-05	0	0
VCPKMT	79609	broad.mit.edu	37	14	50582877	50582877	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:50582877T>C	ENST00000395860.2	-	2	291	c.287A>G	c.(286-288)gAt>gGt	p.D96G	VCPKMT_ENST00000395859.2_Missense_Mutation_p.D96G	NM_024558.2	NP_078834.2			valosin containing protein lysine (K) methyltransferase	96																	TTCCTCAAGATCGGTGACTAC	0.463000													11	47					0	0	3.86212e-05	0	0
STXBP1	6812	broad.mit.edu	37	9	130420710	130420710	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:130420710C>G	ENST00000373302.3	+	4	365	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	STXBP1_ENST00000373299.1_Missense_Mutation_p.L76V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	76					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGCTGTGTATCTCATCACTCC	0.488000													67	99					0	0	0.000147903	0	0
CDH4	1002	broad.mit.edu	37	20	60509143	60509143	+	Silent	SNP	G	G	T	rs138638887		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:60509143G>T	ENST00000360469.5	+	15	2497	c.2409G>T	c.(2407-2409)ccG>ccT	p.P803P	CDH4_ENST00000543233.1_Silent_p.P729P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	803					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGCAGCAGCCGGAAGCCATGG	0.687000													27	33					7.53681e-25	3.21089e-23	0.000147802	1	0
CH25H	9023	broad.mit.edu	37	10	90966755	90966755	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:90966755C>T	ENST00000371852.2	-	1	316	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	99					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		ACGGGGAACACAAACATCACA	0.657000													8	21					0	0	0.000157383	0	0
INTS1	26173	broad.mit.edu	37	7	1527549	1527549	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:1527549C>T	ENST00000389470.4	-	20	2746	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	INTS1_ENST00000404767.3_Missense_Mutation_p.R788Q			Q8N201	INT1_HUMAN	integrator complex subunit 1	788					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CATCTCCGTCCGGGTCTCCTC	0.672000													23	90					0	0	4.16121e-05	0	0
PPA2	27068	broad.mit.edu	37	4	106367566	106367566	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:106367566T>C	ENST00000341695.5	-	5	445	c.415A>G	c.(415-417)Ata>Gta	p.I139V	PPA2_ENST00000380004.2_Missense_Mutation_p.I121V|PPA2_ENST00000432483.2_Intron|PPA2_ENST00000348706.5_Missense_Mutation_p.I139V|PPA2_ENST00000310267.7_Missense_Mutation_p.I60V|PPA2_ENST00000357415.4_Missense_Mutation_p.I154V|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000354147.3_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	139					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TAATTCCATATATAACCCTTG	0.378000													21	26					0	0	3.10358e-05	0	0
TM9SF4	9777	broad.mit.edu	37	20	30753205	30753205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:30753205C>A	ENST00000217315.5	+	18	2176	c.1836C>A	c.(1834-1836)taC>taA	p.Y612*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Y629*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	629						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCAGCCTACATGTTTGTTC	0.552000													21	42					7.87624e-14	3.22304e-12	4.16121e-05	1	0
TMC5	79838	broad.mit.edu	37	16	19452039	19452039	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:19452039A>G	ENST00000396229.2	+	3	1428	c.679A>G	c.(679-681)Agt>Ggt	p.S227G	TMC5_ENST00000541464.1_Missense_Mutation_p.S227G|TMC5_ENST00000542583.2_Missense_Mutation_p.S227G|TMC5_ENST00000381414.4_Missense_Mutation_p.S227G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	227						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGACTATCCCAGTGCTGAGGA	0.468000													25	45					0	0	5.49717e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36873819	36873819	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:36873819C>T	ENST00000301807.6	-	21	7370	c.5473G>A	c.(5473-5475)Gtg>Atg	p.V1825M	TRANK1_ENST00000428977.2_Missense_Mutation_p.V1825M|TRANK1_ENST00000429976.2_Missense_Mutation_p.V2375M			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2375					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCTGTACACGTAGAATTGA	0.463000													20	46					0	0	0.000132079	0	0
CLDN16	10686	broad.mit.edu	37	3	190120217	190120217	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:190120217C>A	ENST00000264734.2	+	2	664	c.416C>A	c.(415-417)gCg>gAg	p.A139E	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	139					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCCATACTTGCGGAGCATCCC	0.473000													27	34					2.08973e-25	8.93341e-24	0.000117367	1	0
DMD	1756	broad.mit.edu	37	X	32466742	32466742	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:32466742T>G	ENST00000357033.4	-	27	3823	c.3617A>C	c.(3616-3618)gAg>gCg	p.E1206A	DMD_ENST00000378677.2_Missense_Mutation_p.E1202A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1206					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGTTGGGCCTCTTCTTTAGC	0.348000													15	11					0	0	5.01169e-05	0	0
PAQR5	54852	broad.mit.edu	37	15	69695922	69695922	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:69695922C>G	ENST00000340965.3	+	9	1422	c.754C>G	c.(754-756)Cac>Gac	p.H252D	PAQR5_ENST00000561153.1_Missense_Mutation_p.H252D|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.H252D|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	252					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TGCCATAGGTCACAGTCACCA	0.468000													10	25					0	0	6.40141e-05	0	0
TMEM184C	55751	broad.mit.edu	37	4	148552573	148552573	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:148552573T>A	ENST00000296582.3	+	7	1270	c.696T>A	c.(694-696)taT>taA	p.Y232*	TMEM184C_ENST00000508208.1_Nonsense_Mutation_p.Y232*	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	232						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGCTCTTTTATAAAGTACTAA	0.308000													29	40					0	0	7.24521e-05	0	0
METTL14	57721	broad.mit.edu	37	4	119626844	119626844	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:119626844G>A	ENST00000388822.5	+	10	1101	c.934G>A	c.(934-936)Gac>Aac	p.D312N	METTL14_ENST00000506780.1_Missense_Mutation_p.D274N			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGTTGACATTGACTTAATTAT	0.383000													29	51					0	0	0.000147802	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220331149	220331149	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:220331149T>G	ENST00000358951.2	-	30	3447	c.3331A>C	c.(3331-3333)Atg>Ctg	p.M1111L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1111					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTTACCTCCATTAAGATCTGA	0.363000													7	35					0	0	8.12818e-05	0	0
PEX6	5190	broad.mit.edu	37	6	42934550	42934550	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:42934550C>A	ENST00000304611.8	-	9	2000	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	PEX6_ENST00000244546.4_Missense_Mutation_p.R644L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	644					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCAGGCTGCCCGGCTGCTGTG	0.577000													6	229					3.59834e-05	0.00136473	3.59834e-05	1	0
CCDC14	64770	broad.mit.edu	37	3	123666120	123666120	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:123666120G>C	ENST00000485727.1	-	4	4867	c.275C>G	c.(274-276)aCa>aGa	p.T92R	CCDC14_ENST00000310351.4_Missense_Mutation_p.T132R|CCDC14_ENST00000488653.2_Missense_Mutation_p.T292R|CCDC14_ENST00000433542.2_Missense_Mutation_p.T251R|CCDC14_ENST00000489746.1_Missense_Mutation_p.T92R|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	292						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGCAGAAACTGTTTTACCTTG	0.388000													22	38					0	0	4.16121e-05	0	0
RPGR	6103	broad.mit.edu	37	X	38128879	38128879	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:38128879T>C	ENST00000339363.3	-	18	3230	c.3063A>G	c.(3061-3063)taA>taG	p.*1021*	RPGR_ENST00000309513.3_Silent_p.*754*|RPGR_ENST00000318842.7_Silent_p.*816*|RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	0					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAATATATATTTATAGTATTG	0.303000													15	3					0	0	0.000219431	0	0
CYB5A	1528	broad.mit.edu	37	18	71928159	71928159	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:71928159G>T	ENST00000340533.4	-	3	419	c.279C>A	c.(277-279)aaC>aaA	p.N93K	CYB5A_ENST00000397914.4_Intron|CYB5A_ENST00000299438.9_Missense_Mutation_p.N19K|CYB5A_ENST00000494131.2_Missense_Mutation_p.N93K|CYB5A_ENST00000579064.1_5'UTR	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	93					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	CCGGAGGCTTGTTTAACTTTG	0.373000													19	40					1.9806e-07	7.67559e-06	3.10358e-05	1	0
FNDC8	54752	broad.mit.edu	37	17	33456453	33456453	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:33456453T>C	ENST00000158009.5	+	3	713	c.598T>C	c.(598-600)Tac>Cac	p.Y200H	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	200	Fibronectin type-III.									breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TTCCTGGACCTACGCCTTGGG	0.572000													29	38					0	0	4.66903e-05	0	0
METTL14	57721	broad.mit.edu	37	4	119621745	119621745	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:119621745C>G	ENST00000388822.5	+	8	853	c.686C>G	c.(685-687)tCa>tGa	p.S229*	METTL14_ENST00000506780.1_Nonsense_Mutation_p.S191*			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCACCTCGATCATTTATTTTT	0.338000													29	46					0	0	5.84002e-05	0	0
TMEM173	340061	broad.mit.edu	37	5	138855922	138855922	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:138855922G>A	ENST00000330794.4	-	8	1397	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	355					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACATCGTGGAGGTACTGGG	0.597000													6	5					0	0	3.59834e-05	0	0
ZNF618	114991	broad.mit.edu	37	9	116811823	116811823	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:116811823C>G	ENST00000288466.7	+	14	2061	c.1962C>G	c.(1960-1962)atC>atG	p.I654M	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.I747M	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	747					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGCAGTCATCGAGCTGAGCA	0.622000													6	13					0	0	8.12818e-05	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	46					0	0	0.00024832	0	0
PDZD3	79849	broad.mit.edu	37	11	119057127	119057127	+	Missense_Mutation	SNP	G	G	A	rs117589215	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:119057127G>A	ENST00000531114.1	+	2	805	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.E86K			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	86					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCACACGGCGAACCTGTACT	0.627000													13	21					0	0	2.31682e-05	0	0
EBF3	253738	broad.mit.edu	37	10	131676043	131676043	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:131676043G>A	ENST00000368648.3	-	7	697	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	EBF3_ENST00000355311.5_Missense_Mutation_p.R209W	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	209					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGAATCTCCGCATATCTCGA	0.358000													4	18					0	0	0.00024832	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848183	29848183	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:29848183G>A	ENST00000325874.8	+	5	792		c.e5-1		RAB11FIP4_ENST00000394744.2_Splice_Site	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)						cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGGACCCTCAGGTCCCTGGTC	0.562000													40	84					0	0	0.000106405	0	0
PRODH	5625	broad.mit.edu	37	22	18905876	18905876	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:18905876C>T	ENST00000357068.6	-	11	1645	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	PRODH_ENST00000420436.1_Silent_p.E352E|PRODH_ENST00000334029.2_Silent_p.E352E	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	460					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TGATGGGGTCCTCATAGCCGA	0.657000													14	28					0	0	2.31682e-05	0	0
ZNF90	7643	broad.mit.edu	37	19	20229811	20229811	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:20229811G>T	ENST00000418063.2	+	4	1560	c.1448G>T	c.(1447-1449)tGt>tTt	p.C483F	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	483						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CTCTACAAATGTCAAGAATGT	0.403000													11	7					9.70103e-10	3.88041e-08	3.86212e-05	1	0
VPS45	11311	broad.mit.edu	37	1	150064082	150064082	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:150064082C>T	ENST00000369130.3	+	11	1702	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	VPS45_ENST00000535106.1_Missense_Mutation_p.R317C|VPS45_ENST00000369128.5_Missense_Mutation_p.R281C	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	386					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.R386S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATGCTGCCCGCCTGGTGAT	0.423000													54	117					0	0	0.000147903	0	0
DNHD1	144132	broad.mit.edu	37	11	6519497	6519497	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:6519497G>C	ENST00000254579.6	+	3	616	c.52G>C	c.(52-54)Gat>Cat	p.D18H	DNHD1_ENST00000527990.2_Missense_Mutation_p.D18H|DNHD1_ENST00000354685.3_Missense_Mutation_p.D18H|DNHD1_ENST00000477562.1_Intron	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	18					microtubule-based movement	dynein complex	microtubule motor activity	p.D18H(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACATCATCTGATTCCCTTAA	0.522000													44	97					0	0	0.000147903	0	0
DNAH7	56171	broad.mit.edu	37	2	196750948	196750948	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:196750948G>C	ENST00000312428.6	-	34	5555	c.5455C>G	c.(5455-5457)Cta>Gta	p.L1819V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1819					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTCTATTAGATTCATTAAG	0.348000													15	33					0	0	3.45872e-05	0	0
AK8	158067	broad.mit.edu	37	9	135702421	135702421	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:135702421C>A	ENST00000298545.3	-	8	1098	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	193						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGTGGCCAGTCAAAGGTGGTG	0.547000													6	134					8.12818e-05	0.00307339	8.12818e-05	1	0
EIF2AK2	5610	broad.mit.edu	37	2	37366800	37366800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:37366800G>A	ENST00000233057.4	-	6	812	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.Q164*|EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.Q164*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	164	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GATAATATCTGAAGATATGCA	0.333000													32	68					0	0	8.91981e-05	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391898	23391898	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:23391898G>A	ENST00000343070.2	+	13	1875	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	SCNN1B_ENST00000307331.5_Missense_Mutation_p.A612T|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A531T|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A540T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	567					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCAGCGGCGAGCCCAAGCCAG	0.637000													39	82					0	0	7.51294e-05	0	0
CIDEC	63924	broad.mit.edu	37	3	9911689	9911689	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:9911689G>T	ENST00000336832.2	-	5	570	c.431C>A	c.(430-432)aCg>aAg	p.T144K	CIDEC_ENST00000455015.1_Missense_Mutation_p.T70K|CIDEC_ENST00000430427.1_Missense_Mutation_p.T154K|CIDEC_ENST00000423850.1_Missense_Mutation_p.T70K|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	144					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CAGATCAAACGTTACACGGGC	0.498000													41	51					3.54909e-21	1.50172e-19	0.000106405	1	0
LIPI	149998	broad.mit.edu	37	21	15554084	15554084	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr21:15554084G>C	ENST00000344577.2	-	4	726	c.701C>G	c.(700-702)tCc>tGc	p.S234C	LIPI_ENST00000536861.1_Missense_Mutation_p.S213C	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	213					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTTACCATTGGAGTCAGAATG	0.403000													9	6					0	0	1.12685e-05	0	0
MEX3B	84206	broad.mit.edu	37	15	82336694	82336694	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:82336694C>G	ENST00000329713.4	-	2	952	c.517G>C	c.(517-519)Ggg>Cgg	p.G173R	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	173	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACCACGAGCCCCACCACGCGG	0.662000													11	59					0	0	0.000219431	0	0
SLFN13	146857	broad.mit.edu	37	17	33772088	33772088	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:33772088T>C	ENST00000285013.6	-	3	887	c.612A>G	c.(610-612)ctA>ctG	p.L204L	SLFN13_ENST00000526861.1_Silent_p.L204L|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Silent_p.L204L|SLFN13_ENST00000542635.1_Silent_p.L204L|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	204						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGAAAAGATAGGATTTCAC	0.333000													41	63					0	0	8.96297e-05	0	0
SLC25A25	114789	broad.mit.edu	37	9	130863670	130863670	+	Silent	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:130863670C>G	ENST00000373066.5	+	3	836	c.429C>G	c.(427-429)ctC>ctG	p.L143L	SLC25A25_ENST00000433501.1_Silent_p.L20L|SLC25A25_ENST00000373068.2_Silent_p.L157L|SLC25A25_ENST00000373064.5_Silent_p.L123L|SLC25A25_ENST00000432073.2_Silent_p.L143L|SLC25A25_ENST00000373069.5_Silent_p.L157L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	123	EF-hand 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AAAAAATTCTCAAGAGGTGAG	0.537000													8	14					0	0	0.000157383	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													16	32					0	0	3.45872e-05	0	0
CTR9	9646	broad.mit.edu	37	11	10784985	10784985	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:10784985G>A	ENST00000361367.2	+	8	1283	c.857G>A	c.(856-858)aGt>aAt	p.S286N		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	286					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGGATTATAGTAAAGTCCAG	0.403000													7	15					0	0	8.12818e-05	0	0
KRT10	3858	broad.mit.edu	37	17	38978258	38978258	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:38978258G>T	ENST00000269576.5	-	1	589	c.580C>A	c.(580-582)Cgt>Agt	p.R194S	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	194	Gly-rich.|Linker 1.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CTGTAGTCACGAGGCTCCCCC	0.418000													47	85					5.12918e-33	2.21552e-31	0.000147903	1	0
OCIAD1	54940	broad.mit.edu	37	4	48852065	48852065	+	Nonsense_Mutation	SNP	C	C	T	rs148329796		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:48852065C>T	ENST00000425583.2	+	6	618	c.343C>T	c.(343-345)Cga>Tga	p.R115*	OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R115*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R115*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.R61*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R115*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R115*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R115*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R88*|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.R115*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	115						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AGAAGCTTTACGATCAGGACA	0.373000													21	36					0	0	0.000147802	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859922	144859922	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:144859922C>T	ENST00000369359.4	-	41	6608	c.6570G>A	c.(6568-6570)ctG>ctA	p.L2190L	PDE4DIP_ENST00000369356.4_Silent_p.L2054L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.L1948L|PDE4DIP_ENST00000530740.1_Silent_p.L2139L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.L2054L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2054					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCCCTCTCAGAGCTCGTA	0.582000			T	PDGFRB	MPD								12	77					0	0	0.000151284	0	0
NSMCE1	197370	broad.mit.edu	37	16	27245562	27245562	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:27245562A>C	ENST00000361439.4	-	4	382	c.283T>G	c.(283-285)Tcc>Gcc	p.S95A		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	95					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GCCATTTTGGAAATTGAAGTT	0.458000													13	40					0	0	0.000219431	0	0
OR6C74	254783	broad.mit.edu	37	12	55641107	55641107	+	Silent	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:55641107T>G	ENST00000343870.4	+	1	126	c.36T>G	c.(34-36)ctT>ctG	p.L12L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACTTTATTCTTCTTGGACTGA	0.338000													44	68					0	0	0.000147903	0	0
ERCC2	2068	broad.mit.edu	37	19	45871992	45871992	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:45871992C>G	ENST00000391945.4	-	5	333	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	ERCC2_ENST00000391944.3_Missense_Mutation_p.E86Q|ERCC2_ENST00000485403.2_Missense_Mutation_p.E62Q|ERCC2_ENST00000391940.4_Missense_Mutation_p.E62Q|ERCC2_ENST00000221481.6_Missense_Mutation_p.E86Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	86	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTTCGAAGCTCTTCAATCACC	0.562000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	5					0	0	0.00024832	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88272541	88272541	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:88272541C>A	ENST00000357081.3	-	10	862	c.718G>T	c.(718-720)Gct>Tct	p.A240S	AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.S169I|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A240S|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.A78S|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A292S|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.S169I			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	240					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.A240T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTCTACAGCTCTCCTGGCA	0.343000													4	22					3.59834e-05	0.00136473	3.59834e-05	1	0
BTD	686	broad.mit.edu	37	3	15685963	15685963	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:15685963C>G	ENST00000383778.4	+	4	898	c.540C>G	c.(538-540)ttC>ttG	p.F180L	BTD_ENST00000303498.5_Missense_Mutation_p.F200L|BTD_ENST00000437172.1_Missense_Mutation_p.F202L|BTD_ENST00000449107.1_Missense_Mutation_p.F202L	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	200	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ATGTCGTGTTCAGCAATAATG	0.458000													4	85					0	0	0.00024832	0	0
HSF1	3297	broad.mit.edu	37	8	145537210	145537210	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:145537210G>A	ENST00000528838.1	+	10	1316	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	HSF1_ENST00000400780.4_Missense_Mutation_p.D349N|HSF1_ENST00000528842.1_3'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	386	Hydrophobic repeat HR-C.|Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGAGCTCAGTGACCACTTGGA	0.617000													8	37					0	0	1.12685e-05	0	0
ZNF28	7576	broad.mit.edu	37	19	53304192	53304192	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:53304192T>C	ENST00000438150.2	-	2	1640	c.747A>G	c.(745-747)gaA>gaG	p.E249E	ZNF28_ENST00000414252.2_Silent_p.E249E|ZNF28_ENST00000360272.4_Silent_p.E249E|ZNF28_ENST00000457749.2_Silent_p.E302E			P17035	ZNF28_HUMAN	zinc finger protein 28	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTCACATTCTTCACATTCAT	0.383000													41	79					0	0	6.26518e-05	0	0
CS	1431	broad.mit.edu	37	12	56668663	56668663	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:56668663C>G	ENST00000548567.1	-	10	1191		c.e10-1		CS_ENST00000542324.2_Splice_Site|CS_ENST00000351328.3_Splice_Site			O75390	CISY_HUMAN	citrate synthase						cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAAGCACTTCCTATGGGTAAG	0.443000													34	41					0	0	8.91981e-05	0	0
ADAM21	8747	broad.mit.edu	37	14	70925091	70925091	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:70925091A>T	ENST00000603540.1	+	2	1133	c.875A>T	c.(874-876)cAt>cTt	p.H292L	ADAM21_ENST00000267499.3_Missense_Mutation_p.H292L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	292	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.H292L(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCTACAGCATGATGCTGCA	0.383000													7	62					0	0	8.12818e-05	0	0
NES	10763	broad.mit.edu	37	1	156646373	156646373	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:156646373G>A	ENST00000368223.3	-	1	816	c.684C>T	c.(682-684)ctC>ctT	p.L228L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	228	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCAGCCTGGAGCTGCTGCA	0.726000													5	9					0	0	1.23904e-05	0	0
OR13H1	347468	broad.mit.edu	37	X	130678905	130678905	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:130678905C>T	ENST00000338616.3	+	1	956	c.858C>T	c.(856-858)ccC>ccT	p.P286P		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGTTGAACCCCCTGATATATA	0.398000													23	12					0	0	4.16121e-05	0	0
MYCL	4610	broad.mit.edu	37	1	40367114	40367114	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:40367114C>T	ENST00000397332.2	-	2	207	c.83G>A	c.(82-84)gGa>gAa	p.G28E	MYCL_ENST00000372815.1_Splice_Site_p.G28E|MYCL_ENST00000372816.2_5'UTR|MYCL_ENST00000429311.1_5'UTR	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		CATGTCCGCTCCCTGCGGGAG	0.662000													7	15					0	0	0.000157383	0	0
CDH23	64072	broad.mit.edu	37	10	73569731	73569731	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:73569731C>T	ENST00000224721.6	+	60	8897	c.8892C>T	c.(8890-8892)atC>atT	p.I2964I	CDH23_ENST00000398788.3_Silent_p.I719I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2959	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGTCAAGATCGTCATTAACG	0.577000													33	57					0	0	0.000132358	0	0
NUP210	23225	broad.mit.edu	37	3	13438913	13438913	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:13438913T>A	ENST00000254508.5	-	3	462	c.380A>T	c.(379-381)gAg>gTg	p.E127V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	127					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGTAGAGCTCGCGGGTGGT	0.612000													17	36					0	0	0.000175454	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390290	38390290	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr21:38390290C>T	ENST00000329553.2	+	4	566	c.356C>T	c.(355-357)tCt>tTt	p.S119F	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		TCTACTGAGTCTGCTTCCGAA	0.582000													9	18					0	0	2.17888e-05	0	0
NDST3	9348	broad.mit.edu	37	4	119026232	119026232	+	Silent	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:119026232G>T	ENST00000296499.5	+	3	1444	c.1041G>T	c.(1039-1041)ctG>ctT	p.L347L	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	347	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATTCAACCTGGGATTTTCAG	0.338000													47	54					9.22156e-22	3.91523e-20	0.000147903	1	0
ZP4	57829	broad.mit.edu	37	1	238050713	238050713	+	Silent	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:238050713C>A	ENST00000366570.4	-	5	860	c.702G>T	c.(700-702)ctG>ctT	p.L234L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	234	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAAACTGGAACAGAACAAAAG	0.517000													38	40					2.40579e-17	9.94287e-16	0.000228196	1	0
SCG3	29106	broad.mit.edu	37	15	52011633	52011633	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:52011633C>T	ENST00000220478.3	+	12	1720	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SCG3_ENST00000542355.2_Silent_p.F207F	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	439					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TGAGAGACTTCATCAATAAAC	0.388000													12	20					0	0	6.40141e-05	0	0
CDK6	1021	broad.mit.edu	37	7	92404013	92404013	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:92404013T>C	ENST00000265734.4	-	3	777	c.366A>G	c.(364-366)atA>atG	p.I122M	CDK6_ENST00000424848.2_Missense_Mutation_p.I122M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	122	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGATACCTTTATGGTTTCAG	0.383000			T	MLLT10	ALL								21	35					0	0	5.49717e-05	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163812	150163812	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:150163812C>G	ENST00000307271.3	+	2	600	c.26C>G	c.(25-27)tCc>tGc	p.S9C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	9						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCCAGATGTCCGAACTGCGG	0.507000													6	26					0	0	8.12818e-05	0	0
SESTD1	91404	broad.mit.edu	37	2	180008525	180008525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:180008525C>A	ENST00000428443.3	-	9	959	c.643G>T	c.(643-645)Gaa>Taa	p.E215*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	215					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACAACAATTCATGCCCTTTA	0.373000													16	39					9.16793e-09	3.6206e-07	5.01169e-05	1	0
MAP7D1	55700	broad.mit.edu	37	1	36640521	36640521	+	Silent	SNP	G	G	A	rs142829808	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:36640521G>A	ENST00000373151.2	+	6	978	c.762G>A	c.(760-762)tcG>tcA	p.S254S	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000373150.4_Silent_p.S254S	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	254						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCTCCGTGTCGGCAGTTAACC	0.607000													14	22					0	0	0.000219431	0	0
DPP8	54878	broad.mit.edu	37	15	65792944	65792944	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:65792944C>T	ENST00000341861.5	-	4	2174	c.594G>A	c.(592-594)acG>acA	p.T198T	DPP8_ENST00000339244.5_Splice_Site_p.T198T|DPP8_ENST00000321147.6_Splice_Site_p.T198T|DPP8_ENST00000321118.7_Splice_Site_p.T198T|DPP8_ENST00000300141.6_Splice_Site_p.T182T|DPP8_ENST00000358939.4_Splice_Site_p.T182T|DPP8_ENST00000559233.1_Splice_Site_p.T198T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	198					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCAACTTACCGTAAATCCTT	0.388000													37	64					0	0	0.000159656	0	0
PKHD1	5314	broad.mit.edu	37	6	51824725	51824725	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:51824725C>T	ENST00000371117.3	-	36	6126	c.5851G>A	c.(5851-5853)Ggc>Agc	p.G1951S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1951S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1951	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCAATTGGCCATTCTCCACT	0.448000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	65					0	0	6.26518e-05	0	0
ZNF430	80264	broad.mit.edu	37	19	21240820	21240820	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:21240820A>G	ENST00000261560.5	+	5	1887	c.1706A>G	c.(1705-1707)cAa>cGa	p.Q569R		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GAAACCCTACAAATGTGAAGA	0.398000													10	16					0	0	3.86212e-05	0	0
WNT16	51384	broad.mit.edu	37	7	120979020	120979020	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:120979020C>G	ENST00000222462.2	+	4	1009	c.719C>G	c.(718-720)tCt>tGt	p.S240C	WNT16_ENST00000361301.2_Missense_Mutation_p.S230C	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	240					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AAAACCATGTCTTCTTTTGAA	0.428000													9	22					0	0	1.12685e-05	0	0
MYH7B	57644	broad.mit.edu	37	20	33585327	33585327	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:33585327G>C	ENST00000262873.7	+	30	3849	c.3757G>C	c.(3757-3759)Ggg>Cgg	p.G1253R		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1211						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGCGGAGCTGGGGGAGCAGGT	0.721000													3	5					0	0	0.00024832	0	0
FLT3	2322	broad.mit.edu	37	13	28592608	28592608	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr13:28592608C>T	ENST00000380982.4	-	20	2618	c.2537G>A	c.(2536-2538)gGc>gAc	p.G846D	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000241453.7_Missense_Mutation_p.G846D			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	846	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCACATTGCCCCTGACAAC	0.438000			"""Mis, O"""		"""AML, ALL"""								12	21					0	0	6.40141e-05	0	0
AXDND1	126859	broad.mit.edu	37	1	179414151	179414151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:179414151C>G	ENST00000367618.3	+	16	1997	c.1610C>G	c.(1609-1611)tCa>tGa	p.S537*	AXDND1_ENST00000457238.2_Nonsense_Mutation_p.S537*|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	537										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTTCTACTGTCAAAATACGAT	0.373000													28	48					0	0	0.000147802	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													4	37					0	0	1.23904e-05	0	0
B4GALT3	8703	broad.mit.edu	37	1	161144908	161144908	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:161144908G>A	ENST00000319769.5	-	4	586	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	B4GALT3_ENST00000367998.1_Missense_Mutation_p.R122C|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	122					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GTTCGGGAGCGGGGCTCACAA	0.647000													54	63					0	0	0.000147903	0	0
THEG	51298	broad.mit.edu	37	19	373997	373997	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:373997C>T	ENST00000342640.4	-	3	488	c.446G>A	c.(445-447)gGt>gAt	p.G149D	THEG_ENST00000346878.2_Intron	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	149					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATACCCCTTACCACAGCGTCC	0.607000													6	21					0	0	3.59834e-05	0	0
CACNA1D	776	broad.mit.edu	37	3	53842789	53842789	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:53842789C>A	ENST00000288139.4	+	47	6041	c.5923C>A	c.(5923-5925)Cag>Aag	p.Q1975K	CACNA1D_ENST00000544977.1_Missense_Mutation_p.Q334K|CACNA1D_ENST00000350061.5_Missense_Mutation_p.Q1955K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.Q1931K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCATCTAATGCAGCAACAGGT	0.632000													14	27					6.31663e-08	2.46329e-06	2.31682e-05	1	0
RSAD1	55316	broad.mit.edu	37	17	48559781	48559781	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:48559781C>T	ENST00000258955.2	+	4	889	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	268					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGAGGCTGGCTTCCACCAGT	0.637000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	27					0	0	0.000229342	0	0
MTTP	4547	broad.mit.edu	37	4	100518250	100518250	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:100518250G>A	ENST00000457717.1	+	9	1192	c.936G>A	c.(934-936)agG>agA	p.R312R	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.R312R|MTTP_ENST00000511045.1_Silent_p.R339R	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	312	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGTCCACCAGGAAATACCTGC	0.507000													29	55					0	0	0.000117367	0	0
CCNA1	8900	broad.mit.edu	37	13	37012779	37012779	+	Splice_Site	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr13:37012779A>G	ENST00000418263.1	+	5	1016		c.e5-1		CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TTTCCCAATCAGATAAGGCAC	0.428000													7	14					0	0	8.12818e-05	0	0
HSPB9	94086	broad.mit.edu	37	17	40274945	40274945	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:40274945G>C	ENST00000355067.3	+	1	190	c.77G>C	c.(76-78)cGg>cCg	p.R26P	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	26					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGCTGAACGGAACCGGGTG	0.602000													13	36					0	0	0.00010058	0	0
CHORDC1	26973	broad.mit.edu	37	11	89938644	89938644	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:89938644C>G	ENST00000529726.1	-	1	4002	c.89G>C	c.(88-90)tGg>tCg	p.W30S	CHORDC1_ENST00000529987.1_Missense_Mutation_p.W30S|CHORDC1_ENST00000320585.6_Missense_Mutation_p.W218S|CHORDC1_ENST00000457199.2_Missense_Mutation_p.W199S			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	218	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTTTTTAGTCCACATGTGTTT	0.318000													14	31					0	0	0.000219431	0	0
PRC1	9055	broad.mit.edu	37	15	91517428	91517428	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:91517428C>T	ENST00000361188.5	-	11	2610	c.1399G>A	c.(1399-1401)Gct>Act	p.A467T	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.A467T|PRC1_ENST00000442656.2_Missense_Mutation_p.A426T|PRC1_ENST00000394249.3_Missense_Mutation_p.A467T			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	467	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTCGAGGAGCGCTGCCATAC	0.493000													6	70					0	0	3.59834e-05	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	37					0	0	0.00024832	0	0
GDPD3	79153	broad.mit.edu	37	16	30119560	30119560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:30119560G>A	ENST00000406256.3	-	9	1170	c.793C>T	c.(793-795)Cga>Tga	p.R265*	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	265	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TCCAAGTGTCGGATCAGACTC	0.622000													13	30					0	0	0.000219431	0	0
GPR162	27239	broad.mit.edu	37	12	6933788	6933788	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:6933788C>A	ENST00000311268.3	+	2	1511	c.724C>A	c.(724-726)Cca>Aca	p.P242T	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TTTTGAGGTACCAGCCATTGT	0.692000													15	23					3.41278e-10	1.36952e-08	5.01169e-05	1	0
CEP192	55125	broad.mit.edu	37	18	13113666	13113666	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:13113666C>T	ENST00000506447.1	+	41	7209	c.7129C>T	c.(7129-7131)Cac>Tac	p.H2377Y	CEP192_ENST00000430049.2_Missense_Mutation_p.H1902Y|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.H1781Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1972										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TAAGGAGCCTCACATGAAACA	0.388000													18	29					0	0	9.7654e-05	0	0
PKN2	5586	broad.mit.edu	37	1	89237127	89237127	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:89237127G>C	ENST00000370521.3	+	5	1005	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	PKN2_ENST00000370513.5_Missense_Mutation_p.E216Q|PKN2_ENST00000370505.3_Missense_Mutation_p.E59Q|PKN2_ENST00000316005.7_Missense_Mutation_p.E216Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	216					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAGTCCTCTTGAACTTCGGAT	0.333000													26	32					0	0	0.000184323	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													3	26					0	0	0.00024832	0	0
LMCD1	29995	broad.mit.edu	37	3	8609243	8609243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:8609243C>T	ENST00000157600.3	+	6	1289	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Nonsense_Mutation_p.Q241*|LMCD1_ENST00000454244.1_Nonsense_Mutation_p.Q280*	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	353	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CACCAAGGGTCAGCTTCTGTG	0.597000													17	227					0	0	0.000175454	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847591	88847591	+	Nonsense_Mutation	SNP	T	T	G	rs113588702	byFrequency	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:88847591T>G	ENST00000333190.4	+	2	840	c.231T>G	c.(229-231)taT>taG	p.Y77*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	77						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTAATTCTTATGACCATGCTC	0.368000										HNSCC(36;0.09)			8	34					0	0	2.17888e-05	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968691	178968691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:178968691C>A	ENST00000392685.2	-	1	727	c.88G>T	c.(88-90)Gag>Tag	p.E30*	KCNMB3_ENST00000497599.1_Nonsense_Mutation_p.E32*|KCNMB3_ENST00000349697.2_Nonsense_Mutation_p.E32*|KCNMB3_ENST00000314235.5_Nonsense_Mutation_p.E34*|KCNMB3_ENST00000485523.1_Nonsense_Mutation_p.E12*	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	34					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			TAGTCTGTCTCTCTCTTCTTC	0.537000													15	28					7.93312e-07	3.04593e-05	0.000219431	1	0
LINC00518	221718	broad.mit.edu	37	6	10430166	10430166	+	RNA	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:10430166G>A	ENST00000496285.1	-	0	869					NR_027793.1																						AGTGTTGGTAGAAAGTACCAG	0.473000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	98	75					0	0	0.000147903	0	0
SORCS1	114815	broad.mit.edu	37	10	108380305	108380305	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:108380305C>T	ENST00000263054.6	-	20	2684	c.2677G>A	c.(2677-2679)Gtg>Atg	p.V893M	SORCS1_ENST00000344440.6_Missense_Mutation_p.V893M|SORCS1_ENST00000369698.1_Missense_Mutation_p.V428M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	893	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GACAGGTGCACGTGCTCCAAG	0.552000													19	32					0	0	7.07596e-05	0	0
CPNE1	8904	broad.mit.edu	37	20	34219189	34219189	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:34219189C>G	ENST00000317619.3	-	11	1196		c.e11+1		CPNE1_ENST00000397446.1_Splice_Site|CPNE1_ENST00000317677.5_Splice_Site|CPNE1_ENST00000397442.1_Splice_Site|CPNE1_ENST00000352393.4_Splice_Site|CPNE1_ENST00000397445.1_Splice_Site|CPNE1_ENST00000397443.1_Splice_Site			Q99829	CPNE1_HUMAN	copine I						lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTTTGTCTCACCCGACAAATC	0.483000													32	57					0	0	4.66903e-05	0	0
CCNL2	81669	broad.mit.edu	37	1	1325922	1325922	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:1325922G>A	ENST00000400809.3	-	7	786	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	CCNL2_ENST00000408952.5_Missense_Mutation_p.H39Y|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	261	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGAAACCAATGGGGACGATTG	0.398000													12	35					0	0	0.00010058	0	0
HIP1R	9026	broad.mit.edu	37	12	123333380	123333380	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:123333380G>T	ENST00000253083.4	+	4	463	c.338G>T	c.(337-339)cGg>cTg	p.R113L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	113	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGCAACATCCGGGAGATTGGA	0.637000													34	8					6.97489e-18	2.90193e-16	0.000159656	1	0
ELF3	1999	broad.mit.edu	37	1	201981146	201981146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:201981146G>A	ENST00000359651.3	+	2	3417	c.225G>A	c.(223-225)tgG>tgA	p.W75*	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	75	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTGGACTGGATCAGCTACC	0.582000													89	84					0	0	0.000147903	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722822	94722822	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:94722822A>T	ENST00000304338.3	+	17	2045	c.1891A>T	c.(1891-1893)Aaa>Taa	p.K631*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	631						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.K631E(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCTGTTGCCCAAAGTGAAATC	0.323000													7	14					0	0	0.000157383	0	0
SBNO2	22904	broad.mit.edu	37	19	1119600	1119600	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:1119600T>C	ENST00000361757.3	-	13	1525	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	SBNO2_ENST00000587024.1_Missense_Mutation_p.M430V|SBNO2_ENST00000438103.2_Missense_Mutation_p.M373V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	430					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ATGTAGATCATGTTCCGAGGC	0.632000													7	9					0	0	0.000157383	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13934253	13934253	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:13934253C>G	ENST00000254323.2	+	10	1992	c.1803C>G	c.(1801-1803)atC>atG	p.I601M	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.I435M	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	601							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCTGGTTCATCCTTGGCCACC	0.607000													7	7					0	0	8.12818e-05	0	0
LPHN2	23266	broad.mit.edu	37	1	82433819	82433819	+	Missense_Mutation	SNP	G	G	A	rs145464208		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:82433819G>A	ENST00000370728.1	+	16	3092	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q	LPHN2_ENST00000319517.6_Missense_Mutation_p.R803Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R803Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R803Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R816Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R803Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R816Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R741Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R803Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R816Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R816Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R816Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R803Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R816Q			O95490	LPHN2_HUMAN	latrophilin 2	816	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R803Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATAAAACTCGAACAACGTGT	0.423000													19	30					0	0	9.7654e-05	0	0
TBC1D1	23216	broad.mit.edu	37	4	38037276	38037276	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:38037276A>G	ENST00000261439.4	+	8	1725	c.1370A>G	c.(1369-1371)gAa>gGa	p.E457G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E457G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	457						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGTTTATATGAAGAGAAACAG	0.343000													10	18					0	0	6.40141e-05	0	0
FABP5	2171	broad.mit.edu	37	8	82195645	82195645	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:82195645G>A	ENST00000396359.1	+	2	492	c.22G>A	c.(22-24)Gat>Aat	p.D8N	FABP5_ENST00000297258.6_Missense_Mutation_p.D42N			Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	42					epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity			large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			GGCCAAGCCAGATTGTATCAT	0.388000													13	42					0	0	3.45872e-05	0	0
KMT2C	58508	broad.mit.edu	37	7	151900069	151900069	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:151900069A>G	ENST00000355193.2	-	26	4260	c.4042T>C	c.(4042-4044)Tac>Cac	p.Y1348H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y1348H					lysine (K)-specific methyltransferase 2C																		CTTTTTCGGTATCTCTTCTTT	0.318000													20	22					0	0	0.000132079	0	0
CDC20B	166979	broad.mit.edu	37	5	54442574	54442574	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:54442574T>C	ENST00000334206.5	-	3	413	c.237A>G	c.(235-237)caA>caG	p.Q79Q	CDC20B_ENST00000322374.6_Silent_p.Q79Q|CDC20B_ENST00000381375.2_Silent_p.Q79Q|CDC20B_ENST00000296733.1_Silent_p.Q79Q|CDC20B_ENST00000331730.3_Silent_p.Q58Q			Q86Y33	CD20B_HUMAN	cell division cycle 20B	79										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TAGTTTGACTTTGCTGCCACC	0.517000											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	32					0	0	0.000117367	0	0
ANAPC7	51434	broad.mit.edu	37	12	110832921	110832921	+	Silent	SNP	T	T	C	rs139413364		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:110832921T>C	ENST00000455511.3	-	3	495	c.495A>G	c.(493-495)agA>agG	p.R165R	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Silent_p.R165R	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GAGTTCTTTGTCTTGAAGGGA	0.383000													16	77					0	0	7.07596e-05	0	0
REXO2	25996	broad.mit.edu	37	11	114315275	114315275	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:114315275A>C	ENST00000265881.5	+	4	465	c.322A>C	c.(322-324)Aag>Cag	p.K108Q	REXO2_ENST00000538791.1_Missense_Mutation_p.K18Q|REXO2_ENST00000539275.1_Intron|REXO2_ENST00000539754.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	108	Exonuclease.				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		TGGCCTTACCAAGGCAGTGAA	0.458000													13	25					0	0	0.000151284	0	0
RAB3IP	117177	broad.mit.edu	37	12	70195401	70195401	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:70195401G>A	ENST00000550536.1	+	8	1535	c.1078G>A	c.(1078-1080)Gtt>Att	p.V360I	RAB3IP_ENST00000483530.2_Missense_Mutation_p.V344I|RAB3IP_ENST00000247833.7_Missense_Mutation_p.V344I|RAB3IP_ENST00000551641.1_Missense_Mutation_p.V138I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.V360I|RAB3IP_ENST00000325555.9_Missense_Mutation_p.V138I|RAB3IP_ENST00000550847.1_Missense_Mutation_p.V51I|RAB3IP_ENST00000553099.1_Missense_Mutation_p.V138I	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	360					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTTCAGCTGTTCTGGAGGC	0.353000													18	17					0	0	0.000229342	0	0
NAV3	89795	broad.mit.edu	37	12	78569140	78569140	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:78569140C>T	ENST00000397909.2	+	25	5209	c.5036C>T	c.(5035-5037)gCc>gTc	p.A1679V	NAV3_ENST00000228327.6_Missense_Mutation_p.A1679V|NAV3_ENST00000266692.7_Missense_Mutation_p.A1502V|NAV3_ENST00000536525.2_Missense_Mutation_p.A1679V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1679						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCAACAGTGCCACAAGCCAT	0.428000										HNSCC(70;0.22)			16	28					0	0	2.31682e-05	0	0
S100A4	6275	broad.mit.edu	37	1	153516337	153516337	+	Missense_Mutation	SNP	G	G	C	rs111468775	byFrequency	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:153516337G>C	ENST00000368716.4	-	3	351	c.204C>G	c.(202-204)aaC>aaG	p.N68K	S100A4_ENST00000368714.1_Missense_Mutation_p.N68K|S100A4_ENST00000368715.1_Missense_Mutation_p.N68K|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Missense_Mutation_p.N68K	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCCACCTCGTTGTCCCTGT	0.483000													37	108					0	0	0.000270559	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73440854	73440854	+	Silent	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:73440854G>T	ENST00000556143.1	-	11	2755	c.2035C>A	c.(2035-2037)Cgg>Agg	p.R679R	ZFYVE1_ENST00000555072.1_Silent_p.R264R|ZFYVE1_ENST00000553891.1_Silent_p.R679R|ZFYVE1_ENST00000318876.5_Silent_p.R665R|ZFYVE1_ENST00000394207.2_Silent_p.R264R	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	679						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCACCTTCCGAGCAATGAGC	0.552000													28	26					1.06801e-11	4.2997e-10	3.70037e-05	1	0
H1F0	3005	broad.mit.edu	37	22	38201748	38201748	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:38201748C>T	ENST00000340857.2	+	1	635	c.197C>T	c.(196-198)tCg>tTg	p.S66L		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	66	H15.				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					AACGCTGACTCGCAGATCAAG	0.607000													31	43					0	0	5.84002e-05	0	0
WDR44	54521	broad.mit.edu	37	X	117527216	117527216	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:117527216A>G	ENST00000254029.3	+	4	1203	c.808A>G	c.(808-810)Aaa>Gaa	p.K270E	WDR44_ENST00000371822.5_Missense_Mutation_p.K245E|WDR44_ENST00000371825.3_Missense_Mutation_p.K270E	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	270						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TGAGACTCTGAAAACTCCTGA	0.488000													50	21					0	0	0.000147903	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6984759	6984759	+	RNA	SNP	A	A	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:6984759A>C	ENST00000600751.1	-	0	356					NR_024075.1																						AGTTGAATAAAGTATATTTTA	0.358000													3	9					0	0	6.4e-05	0	0
PHF20	51230	broad.mit.edu	37	20	34505408	34505408	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:34505408G>C	ENST00000374012.3	+	13	1957	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCTCGTAGAGGAGGATAATTT	0.383000													3	10					0	0	6.4e-05	0	0
RAG2	5897	broad.mit.edu	37	11	36614485	36614485	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:36614485C>T	ENST00000311485.3	-	2	1395	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	412					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCTGTCTCAGACTCATCT	0.398000									Familial Hemophagocytic Lymphohistiocytosis				31	25					0	0	4.66903e-05	0	0
MTO1	25821	broad.mit.edu	37	6	74189702	74189702	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:74189702C>A	ENST00000498286.1	+	6	1259	c.982C>A	c.(982-984)Cgt>Agt	p.R328S	MTO1_ENST00000370300.4_Missense_Mutation_p.R328S|MTO1_ENST00000415954.2_Missense_Mutation_p.R328S|MTO1_ENST00000370305.1_Missense_Mutation_p.R254S			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	328					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTTCCAAACCGTCTACATCA	0.388000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	23	32					1.33986e-20	5.65013e-19	9.22233e-05	1	0
GPR149	344758	broad.mit.edu	37	3	154146540	154146540	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:154146540T>C	ENST00000389740.2	-	1	964	c.865A>G	c.(865-867)Agg>Ggg	p.R289G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	289						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTCACGCCTGCAGGCTTCA	0.652000													30	56					0	0	3.70037e-05	0	0
SVIL	6840	broad.mit.edu	37	10	29821863	29821863	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:29821863C>A	ENST00000375398.2	-	10	1882	c.1433G>T	c.(1432-1434)gGt>gTt	p.G478V	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.G478V			O95425	SVIL_HUMAN	supervillin	478					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCAGGCTTACCAAAGTCCTC	0.532000													19	40					1.33834e-09	5.31914e-08	9.7654e-05	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642793	91642793	+	Silent	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:91642793T>A	ENST00000373094.1	+	5	4049	c.3204T>A	c.(3202-3204)ggT>ggA	p.G1068G	PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000373097.1_Silent_p.G1058G|PCDH11X_ENST00000298274.8_Silent_p.G1031G|PCDH11X_ENST00000406881.1_Silent_p.G1068G|PCDH11X_ENST00000361655.2_Silent_p.G1058G|PCDH11X_ENST00000373088.1_Silent_p.G1031G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1068					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						GCAGTGATGGTGGACTGGGAG	0.527000													28	10					0	0	0.000228196	0	0
ZNF90	7643	broad.mit.edu	37	19	20229812	20229812	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:20229812T>G	ENST00000418063.2	+	4	1561	c.1449T>G	c.(1447-1449)tgT>tgG	p.C483W	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	483						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCTACAAATGTCAAGAATGTG	0.403000													9	7					0	0	1.12685e-05	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912428	101912428	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:101912428G>A	ENST00000537097.1	+	6	4400	c.3587G>A	c.(3586-3588)gGt>gAt	p.G1196D	GPRASP1_ENST00000361600.5_Missense_Mutation_p.G1196D|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G1196D|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G1196D|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1196	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CGAGATTCAGGTGTTGTCTCA	0.378000													17	14					0	0	9.7654e-05	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631717	101631717	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:101631717C>T	ENST00000310954.6	-	1	536	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	84					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GACCCCTCCTCAAACTCGGAC	0.587000													14	4					0	0	3.45872e-05	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120336036	120336036	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:120336036C>G	ENST00000397843.2	+	28	2870	c.2704C>G	c.(2704-2706)Cag>Gag	p.Q902E	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q883E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q799E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	902	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAAATCTCGTCAGAAAAAGGA	0.398000			T	MLL	AML								16	32					0	0	5.01169e-05	0	0
GPR125	166647	broad.mit.edu	37	4	22449094	22449094	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:22449094T>C	ENST00000334304.5	-	5	783	c.514A>G	c.(514-516)Act>Gct	p.T172A	GPR125_ENST00000502482.1_Missense_Mutation_p.T172A|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	172					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAATCAAAAGTTCCTTGAGAT	0.249000													15	22					0	0	7.07596e-05	0	0
TTC3	7267	broad.mit.edu	37	21	38463711	38463711	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr21:38463711A>C	ENST00000399017.2	+	7	3346	c.599A>C	c.(598-600)gAa>gCa	p.E200A	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E200A|TTC3_ENST00000354749.2_Missense_Mutation_p.E200A|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.E200A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	200					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E200G(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCTTTACTGAATGTAAGTAT	0.289000													7	4					0	0	8.12818e-05	0	0
KLHL9	55958	broad.mit.edu	37	9	21334469	21334469	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:21334469G>A	ENST00000359039.4	-	1	910	c.390C>T	c.(388-390)agC>agT	p.S130S	KLHL9_ENST00000537938.1_Silent_p.S62S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	130					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTGTAAAAAGCTAGCAGCTT	0.353000													23	30					0	0	3.10358e-05	0	0
ATM	472	broad.mit.edu	37	11	108153607	108153607	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:108153607G>A	ENST00000278616.4	+	25	4131		c.e25+1		ATM_ENST00000452508.2_Splice_Site	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTCTATAGGTAAGTTTATA	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	18					0	0	8.12818e-05	0	0
ADAM29	11086	broad.mit.edu	37	4	175899041	175899041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:175899041C>T	ENST00000359240.3	+	5	3035	c.2365C>T	c.(2365-2367)Cag>Tag	p.Q789*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q789*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q789*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q789*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	789	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			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)		GAGTCATCCTCAGTTGACGCC	0.577000													60	67					0	0	0.000147903	0	0
ACSS1	84532	broad.mit.edu	37	20	24994597	24994597	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:24994597C>G	ENST00000537502.1	-	7	2734	c.1203G>C	c.(1201-1203)aaG>aaC	p.K401N	ACSS1_ENST00000432802.2_Splice_Site_p.K484N|ACSS1_ENST00000542618.1_Splice_Site_p.K363N|ACSS1_ENST00000323482.4_Splice_Site_p.K484N			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	484					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATACACACCTTCTCATCCA	0.632000													7	12					0	0	8.12818e-05	0	0
DIDO1	11083	broad.mit.edu	37	20	61513517	61513517	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:61513517G>A	ENST00000266070.4	-	16	4116	c.3791C>T	c.(3790-3792)cCg>cTg	p.P1264L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1264L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1264	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGAGGGGGCGGAGGCGGCGG	0.642000													41	71					0	0	7.51294e-05	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696579	17696579	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:17696579A>G	ENST00000399080.2	-	1	3127	c.3104T>C	c.(3103-3105)aTa>aCa	p.I1035T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1035										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGACCTGCTATAGTATCATG	0.363000													18	21					0	0	9.7654e-05	0	0
PROM1	8842	broad.mit.edu	37	4	16019981	16019981	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:16019981G>C	ENST00000505450.1	-	8	1552	c.940C>G	c.(940-942)Cta>Gta	p.L314V	PROM1_ENST00000447510.2_Missense_Mutation_p.L323V|PROM1_ENST00000508167.1_Missense_Mutation_p.L314V|PROM1_ENST00000543373.1_Missense_Mutation_p.L314V|PROM1_ENST00000510224.1_Missense_Mutation_p.L323V|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Missense_Mutation_p.L323V|PROM1_ENST00000540805.1_Missense_Mutation_p.L323V	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	323					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGCTGGCTTAGAGACAATCTG	0.547000													9	17					0	0	6.40141e-05	0	0
CCDC47	57003	broad.mit.edu	37	17	61829336	61829336	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:61829336C>T	ENST00000225726.5	-	12	1717	c.1335G>A	c.(1333-1335)atG>atA	p.M445I	RP11-51F16.8_ENST00000580553.1_Silent_p.*41*|CCDC47_ENST00000582252.1_Missense_Mutation_p.M445I|CCDC47_ENST00000403162.3_Missense_Mutation_p.M445I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	445						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTCCTCATTCATGATTCGCT	0.458000													28	44					0	0	0.000117367	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975548	116975548	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:116975548T>C	ENST00000355044.3	+	9	1568	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	481						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAAAGTCCATTTATGTTCAT	0.368000													8	32					0	0	3.86212e-05	0	0
SLC38A2	54407	broad.mit.edu	37	12	46754989	46754989	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:46754989A>G	ENST00000256689.5	-	16	1870	c.1426T>C	c.(1426-1428)Ttg>Ctg	p.L476L	SLC38A2_ENST00000551374.1_Silent_p.L314L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	476					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AGGAAGAACAAAGCCTGCAAA	0.373000													5	9					0	0	1.23904e-05	0	0
VIPR1	7433	broad.mit.edu	37	3	42568981	42568981	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:42568981C>T	ENST00000433647.1	+	6	997	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Silent_p.L166L|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000543411.1_Silent_p.L118L|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000473575.1_3'UTR	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	166					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TATCCTGAGCCTGTTCAGGTG	0.627000													14	26					0	0	3.45872e-05	0	0
RCBTB2	1102	broad.mit.edu	37	13	49075961	49075961	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr13:49075961T>C	ENST00000344532.3	-	12	1584	c.1161A>G	c.(1159-1161)gaA>gaG	p.E387E	RCBTB2_ENST00000544492.1_Silent_p.E113E|RCBTB2_ENST00000430805.2_Silent_p.E392E	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	387							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGTTGTCAAATTCCCTCTTCA	0.418000													4	11					0	0	1.23904e-05	0	0
MBD1	4152	broad.mit.edu	37	18	47803485	47803485	+	Missense_Mutation	SNP	C	C	T	rs140504319		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:47803485C>T	ENST00000591416.1	-	3	631	c.200G>A	c.(199-201)gGc>gAc	p.G67D	MBD1_ENST00000591535.1_Missense_Mutation_p.G67D|MBD1_ENST00000457839.2_Missense_Mutation_p.G67D|MBD1_ENST00000436910.1_Missense_Mutation_p.G67D|MBD1_ENST00000587605.1_Missense_Mutation_p.G67D|MBD1_ENST00000382948.5_Missense_Mutation_p.G67D|MBD1_ENST00000585672.1_Missense_Mutation_p.G67D|MBD1_ENST00000349085.2_Missense_Mutation_p.G67D|MBD1_ENST00000398488.1_Missense_Mutation_p.G67D|MBD1_ENST00000269468.5_Missense_Mutation_p.G67D|MBD1_ENST00000590208.1_Missense_Mutation_p.G67D|MBD1_ENST00000339998.6_Missense_Mutation_p.G67D|MBD1_ENST00000588937.1_Missense_Mutation_p.G67D|MBD1_ENST00000353909.3_Missense_Mutation_p.G67D|MBD1_ENST00000398493.1_Missense_Mutation_p.G67D|MBD1_ENST00000269471.5_Missense_Mutation_p.G67D|MBD1_ENST00000398495.2_Missense_Mutation_p.G67D|MBD1_ENST00000347968.3_Missense_Mutation_p.G67D|MBD1_ENST00000424334.2_Missense_Mutation_p.G93D|MBD1_ENST00000585595.1_Missense_Mutation_p.G67D			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	67	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GCACAAGATGCCTTGTTTGAA	0.547000													10	3					0	0	3.86212e-05	0	0
KCNH7	90134	broad.mit.edu	37	2	163369172	163369172	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:163369172T>C	ENST00000332142.5	-	5	1004	c.905A>G	c.(904-906)aAt>aGt	p.N302S	KCNH7_ENST00000477019.1_Intron|KCNH7_ENST00000328032.4_Intron	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	302					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTGACATTGCGACCATT	0.348000													6	59					0	0	8.12818e-05	0	0
GJA10	84694	broad.mit.edu	37	6	90605506	90605506	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:90605506A>T	ENST00000369352.1	+	1	1319	c.1319A>T	c.(1318-1320)aAg>aTg	p.K440M		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	440					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTGTCTGAAAAGCGACATCTG	0.532000													27	14					0	0	9.22233e-05	0	0
SLC5A8	160728	broad.mit.edu	37	12	101552074	101552074	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:101552074T>C	ENST00000536262.2	-	14	2221	c.1663A>G	c.(1663-1665)Ata>Gta	p.I555V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	555					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGGTTAGTATGTATCTGGGG	0.353000													4	146					0	0	0.00024832	0	0
HDLBP	3069	broad.mit.edu	37	2	242178147	242178147	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:242178147A>G	ENST00000391975.1	-	20	2893	c.2666T>C	c.(2665-2667)aTg>aCg	p.M889T	HDLBP_ENST00000310931.4_Missense_Mutation_p.M889T|HDLBP_ENST00000391976.2_Missense_Mutation_p.M889T|HDLBP_ENST00000427183.2_Missense_Mutation_p.M856T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	889	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTTGGGGCCCATGACAGATCG	0.453000													93	153					0	0	0.000147903	0	0
CELSR3	1951	broad.mit.edu	37	3	48698501	48698501	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:48698501C>T	ENST00000544264.1	-	1	1847	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	CELSR3_ENST00000164024.4_Missense_Mutation_p.G523R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	523	Cadherin 2.				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)		GAGCGCGGCCCGGGTTCCTGG	0.642000													10	15					0	0	3.86212e-05	0	0
APOB	338	broad.mit.edu	37	2	21234811	21234811	+	Silent	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:21234811C>A	ENST00000233242.1	-	26	5056	c.4929G>T	c.(4927-4929)gcG>gcT	p.A1643A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1643					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1643A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCTTAGTGTCGCCTTGTGAG	0.463000													18	26					3.51602e-12	1.42011e-10	0.000132079	1	0
STMN4	81551	broad.mit.edu	37	8	27097538	27097538	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:27097538C>T	ENST00000350889.4	-	6	654	c.541G>A	c.(541-543)Gag>Aag	p.E181K	STMN4_ENST00000519997.1_Missense_Mutation_p.E145K|STMN4_ENST00000519614.1_Missense_Mutation_p.E154K|STMN4_ENST00000523048.1_Missense_Mutation_p.E181K|STMN4_ENST00000522908.1_Missense_Mutation_p.E181K|STMN4_ENST00000265770.7_Missense_Mutation_p.E154K	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	154					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TCCCTGTTCTCCTTGTTGGAT	0.517000													17	35					0	0	7.07596e-05	0	0
DGCR6	8214	broad.mit.edu	37	22	18897774	18897774	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:18897774C>T	ENST00000331444.6	+	3	513	c.361C>T	c.(361-363)Cga>Tga	p.R121*	DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	121					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GGCTCAGCAGCGAGAACTAGA	0.677000													9	9					0	0	1.12685e-05	0	0
CHD6	84181	broad.mit.edu	37	20	40054020	40054020	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:40054020C>T	ENST00000373233.3	-	29	4321	c.4144G>A	c.(4144-4146)Gac>Aac	p.D1382N		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1382					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGTCTGGGTCGGAGCCATCC	0.478000													3	16					0	0	6.4e-05	0	0
LIPH	200879	broad.mit.edu	37	3	185251381	185251381	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:185251381A>G	ENST00000296252.4	-	3	645	c.504T>C	c.(502-504)gaT>gaC	p.D168D	LIPH_ENST00000424591.2_Silent_p.D168D	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	168					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCAGCCATCCATCGTACATCT	0.488000													19	52					0	0	3.10358e-05	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103650	49103650	+	Silent	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:49103650C>A	ENST00000358295.5	+	3	538	c.363C>A	c.(361-363)acC>acA	p.T121T	FAM19A5_ENST00000473898.1_3'UTR|FAM19A5_ENST00000406880.1_Silent_p.T49T|FAM19A5_ENST00000402357.1_Silent_p.T128T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	128						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGATAAAGACCACCACGGTAT	0.657000													33	64					2.47316e-13	1.00872e-11	8.91981e-05	1	0
CCDC47	57003	broad.mit.edu	37	17	61829411	61829411	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:61829411C>T	ENST00000225726.5	-	12	1642	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	RP11-51F16.8_ENST00000580553.1_Silent_p.*16*|CCDC47_ENST00000582252.1_Silent_p.L420L|CCDC47_ENST00000403162.3_Silent_p.L420L	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	420						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GCACATGTGTCAGTTTCAAGA	0.438000													19	35					0	0	0.000175454	0	0
CD274	29126	broad.mit.edu	37	9	5457222	5457222	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:5457222C>A	ENST00000381577.3	+	3	282	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	66	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		GAACATTATTCAATTTGTGCA	0.443000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								4	34					0.00024832	0.00933263	0.00024832	1	0
SUGP2	10147	broad.mit.edu	37	19	19137003	19137003	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:19137003C>T	ENST00000601879.1	-	3	451	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SUGP2_ENST00000452918.2_Missense_Mutation_p.E52K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E52K|SUGP2_ENST00000456085.2_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.E66K|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	52					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCATACATCTCTGCTCTGGAT	0.438000													4	6					0	0	0.00024832	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661005	77661005	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:77661005G>T	ENST00000296043.6	+	5	2632	c.1679G>T	c.(1678-1680)tGt>tTt	p.C560F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	560					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTCCATTTCTGTTCAGTGCCT	0.517000													54	70					1.4709e-25	6.30965e-24	0.000147903	1	0
LCT	3938	broad.mit.edu	37	2	136570089	136570089	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:136570089A>G	ENST00000264162.2	-	7	2155	c.2145T>C	c.(2143-2145)caT>caC	p.H715H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	715	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)		GGGGCCACACATGGTTCACGT	0.532000													33	52					0	0	7.24521e-05	0	0
RALGPS2	55103	broad.mit.edu	37	1	178871262	178871262	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:178871262A>T	ENST00000367635.3	+	18	1884	c.1546A>T	c.(1546-1548)Aac>Tac	p.N516Y	RALGPS2_ENST00000367634.2_Missense_Mutation_p.N490Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	516	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATCCAATAAGAACGTATCTGT	0.373000													22	34					0	0	0.000229342	0	0
METTL14	57721	broad.mit.edu	37	4	119626811	119626811	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:119626811G>A	ENST00000388822.5	+	10	1068	c.901G>A	c.(901-903)Gac>Aac	p.D301N	METTL14_ENST00000506780.1_Missense_Mutation_p.D263N			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCGTAGCACAGACGGGGACTT	0.363000													19	59					0	0	0.000175454	0	0
LOC81691	81691	broad.mit.edu	37	16	20844392	20844392	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:20844392G>A	ENST00000261377.6	+	13	1539	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	AC004381.6_ENST00000348433.6_Missense_Mutation_p.E444K|AC004381.6_ENST00000564274.1_Missense_Mutation_p.E444K|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGATGCTGGTGAACTTCCATC	0.403000													14	19					0	0	0.000219431	0	0
TRPM4	54795	broad.mit.edu	37	19	49692278	49692278	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:49692278G>T	ENST00000252826.5	+	14	2075	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V	TRPM4_ENST00000427978.2_Missense_Mutation_p.G650V|TRPM4_ENST00000355712.5_Missense_Mutation_p.G296V	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	650					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCGCTCTGGGGGGATGCCACT	0.617000													45	65					8.20599e-20	3.43712e-18	0.000106405	1	0
MBD6	114785	broad.mit.edu	37	12	57921741	57921741	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:57921741G>A	ENST00000355673.3	+	9	2703	c.2347G>A	c.(2347-2349)Gct>Act	p.A783T	MBD6_ENST00000431731.2_Missense_Mutation_p.A783T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	783	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGGGGGAGCTCCTCCACC	0.602000													26	43					0	0	9.22233e-05	0	0
NDNL2	56160	broad.mit.edu	37	15	29561666	29561666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:29561666G>A	ENST00000332303.4	-	1	367	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	82					regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGCTGCTTCTGGCTCCTgggc	0.687000											OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	23	39					0	0	0.000229342	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122275	12122275	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:12122275G>A	ENST00000379388.2	+	4	2579	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	749					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCGGATATCGAAGCTTATCT	0.502000													12	26					0	0	6.40141e-05	0	0
TAF4	6874	broad.mit.edu	37	20	60585143	60585143	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:60585143G>A	ENST00000252996.4	-	4	1719	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C	TAF4_ENST00000609045.1_5'UTR	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)			GGTACCGTGCGCTGAGGAGTC	0.612000													11	32					0	0	0.00010058	0	0
CUL9	23113	broad.mit.edu	37	6	43188499	43188499	+	Silent	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:43188499C>G	ENST00000252050.4	+	33	6522	c.6438C>G	c.(6436-6438)ctC>ctG	p.L2146L	CUL9_ENST00000354495.3_Silent_p.L2036L|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Silent_p.L2118L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2146					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAAGGCGCTCCTGCGTGGCT	0.662000													13	23					0	0	2.31682e-05	0	0
PGM2L1	283209	broad.mit.edu	37	11	74062614	74062614	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:74062614C>A	ENST00000298198.4	-	6	874	c.563G>T	c.(562-564)tGg>tTg	p.W188L		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	188					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	p.W188*(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ACCAGTTTCCCAGTAAACCTA	0.328000													5	14					4.096e-09	1.62275e-07	3.59834e-05	1	0
TNK1	8711	broad.mit.edu	37	17	7291803	7291803	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:7291803G>A	ENST00000570896.1	+	12	2002	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	TNK1_ENST00000311668.2_Missense_Mutation_p.R519Q|TNK1_ENST00000576812.1_Missense_Mutation_p.R524Q			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	524	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCTGAAATTCGACAAGCCAGA	0.602000													5	12					0	0	1.23904e-05	0	0
AKAP13	11214	broad.mit.edu	37	15	86087001	86087001	+	Splice_Site	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:86087001A>G	ENST00000394518.2	+	5	573		c.e5-1		AKAP13_ENST00000361243.2_Splice_Site	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCCATTTACAGATGCTGGCC	0.478000													11	19					0	0	0.00010058	0	0
SYS1	90196	broad.mit.edu	37	20	43994277	43994277	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:43994277C>T	ENST00000426004.1	+	3	361	c.181C>T	c.(181-183)Cct>Tct	p.P61S	SYS1_ENST00000414310.1_Missense_Mutation_p.P40S|SYS1_ENST00000243918.5_Missense_Mutation_p.P61S|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1_ENST00000372727.1_Missense_Mutation_p.P61S|SYS1_ENST00000479779.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Missense_Mutation_p.P61S	NM_001099791.2	NP_001093261.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	61					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTTTTCCACCCCTCCAGGCCG	0.532000													81	148					0	0	0.000147903	0	0
C2orf49	79074	broad.mit.edu	37	2	105954034	105954034	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:105954034T>C	ENST00000437250.2	+	1	219	c.104T>C	c.(103-105)cTg>cCg	p.L35P	C2orf49_ENST00000410049.1_5'UTR|C2orf49_ENST00000258457.2_5'UTR			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	0						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						TGGGGTCTCCTGGCGACGACC	0.657000													13	14					0	0	3.45872e-05	0	0
CHTF18	63922	broad.mit.edu	37	16	845787	845787	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:845787G>C	ENST00000317063.6	+	19	2905	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	CHTF18_ENST00000262315.9_Missense_Mutation_p.D760H|CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	760					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTGCTCCTCGATGCCCTCTG	0.692000													4	9					0	0	0.00024832	0	0
LAMB4	22798	broad.mit.edu	37	7	107732071	107732071	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:107732071C>G	ENST00000388781.3	-	14	1784	c.1701G>C	c.(1699-1701)ttG>ttC	p.L567F	LAMB4_ENST00000205386.4_Splice_Site_p.L567F|LAMB4_ENST00000418464.1_Splice_Site_p.L567F|LAMB4_ENST00000388780.3_Splice_Site_p.L567F|LAMB4_ENST00000414450.2_Splice_Site_p.L567F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	567	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAATACGAACCAAAGGCGCCA	0.448000													23	39					0	0	5.49717e-05	0	0
GPR110	266977	broad.mit.edu	37	6	46977668	46977668	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:46977668G>A	ENST00000371253.2	-	11	1718	c.1503C>T	c.(1501-1503)gtC>gtT	p.V501V	GPR110_ENST00000283297.5_Silent_p.V304V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAGGTCCATTGACCTGAGCAT	0.418000													23	30					0	0	7.16444e-05	0	0
KLHL7	55975	broad.mit.edu	37	7	23212628	23212628	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:23212628G>C	ENST00000339077.5	+	10	1684	c.1441G>C	c.(1441-1443)Gac>Cac	p.D481H	KLHL7_ENST00000409689.1_Missense_Mutation_p.D433H|KLHL7_ENST00000545443.1_Missense_Mutation_p.D459H|KLHL7_ENST00000542558.1_Missense_Mutation_p.D256H|KLHL7_ENST00000322231.7_Missense_Mutation_p.D459H|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.D405H	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTGTAAAAGACAAGATATT	0.368000													28	66					0	0	3.70037e-05	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818866	159818866	+	RNA	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:159818866G>A	ENST00000497452.1	-	0	517																											tccaggggaagaaaaggggag	0.483000													94	222					0	0	0.000147903	0	0
BRD4	23476	broad.mit.edu	37	19	15376406	15376406	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:15376406G>A	ENST00000263377.2	-	5	829	c.608C>T	c.(607-609)tCg>tTg	p.S203L	BRD4_ENST00000371835.4_Missense_Mutation_p.S203L|BRD4_ENST00000360016.5_Missense_Mutation_p.S203L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	203					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGAGGAGTCGATGCTTGAGT	0.577000			T	C15orf55	lethal midline carcinoma of young people								76	101					0	0	0.000147903	0	0
VAPA	9218	broad.mit.edu	37	18	9950413	9950413	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:9950413G>T	ENST00000400000.2	+	5	694	c.439G>T	c.(439-441)Gct>Tct	p.A147S	VAPA_ENST00000340541.4_Missense_Mutation_p.A192S|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	147					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ACCTAGCAAAGCTGTTCCACT	0.338000													14	24					1.99824e-07	7.71989e-06	5.01169e-05	1	0
FAM178A	55719	broad.mit.edu	37	10	102676978	102676978	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:102676978T>C	ENST00000238961.4	+	3	1378	c.836T>C	c.(835-837)aTa>aCa	p.I279T	FAM178A_ENST00000370269.3_Missense_Mutation_p.I279T|FAM178A_ENST00000370271.3_Missense_Mutation_p.I279T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAATCTAGTATAGAAAGAAAA	0.353000													19	31					0	0	0.000229342	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120422	62120422	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:62120422C>T	ENST00000217182.3	-	7	1278	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	EEF1A2_ENST00000298049.7_Silent_p.K371K	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	371						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCTCCGCAAACTTGCAGGCGA	0.617000													14	29					0	0	0.000151284	0	0
RPAP1	26015	broad.mit.edu	37	15	41813014	41813014	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:41813014C>A	ENST00000304330.4	-	22	3486	c.3370G>T	c.(3370-3372)Gac>Tac	p.D1124Y	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1124	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCATGGTGTCTGTGGGAGAG	0.677000													20	23					2.94398e-08	1.15896e-06	9.7654e-05	1	0
ZNF250	58500	broad.mit.edu	37	8	146107413	146107413	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:146107413G>A	ENST00000292579.7	-	6	1286	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Silent_p.T385T|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCTTCTCCCCGGTGTGCACGT	0.592000													5	96					0	0	1.23904e-05	0	0
EXO1	9156	broad.mit.edu	37	1	242030318	242030318	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:242030318C>T	ENST00000366548.3	+	11	1821	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	EXO1_ENST00000348581.5_Missense_Mutation_p.L410F|EXO1_ENST00000518483.1_Missense_Mutation_p.L410F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGGGTTAAATCTCCCAAGGAA	0.403000								Editing and processing nucleases					15	32					0	0	7.07596e-05	0	0
LETMD1	25875	broad.mit.edu	37	12	51449971	51449971	+	Silent	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:51449971G>C	ENST00000418425.2	+	6	763	c.744G>C	c.(742-744)ctG>ctC	p.L248L	LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Silent_p.L235L|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Silent_p.L118L|LETMD1_ENST00000550929.1_Silent_p.L179L|LETMD1_ENST00000380123.2_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	235	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TCTTGGCTCTGAGAGAGTGTT	0.468000													24	42					0	0	0.000117367	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834145	101834145	+	Silent	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:101834145T>A	ENST00000263468.8	+	6	2649	c.2379T>A	c.(2377-2379)gcT>gcA	p.A793A	KIAA1377_ENST00000537689.1_Silent_p.A594A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	793							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTACACAAGCTCAGGGAAAAT	0.383000													46	29					0	0	0.000147903	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316295	73316295	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:73316295T>C	ENST00000258098.6	-	2	820	c.580A>G	c.(580-582)Agg>Ggg	p.R194G	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	194					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ATCTTGTCCCTGATCTTGCTG	0.537000													59	121					0	0	0.000147903	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32120668	32120668	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:32120668G>A	ENST00000375250.5	-	8	1598	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	ARHGAP12_ENST00000344936.2_Splice_Site_p.R483*|ARHGAP12_ENST00000311380.4_Splice_Site_p.R431*|ARHGAP12_ENST00000396144.4_Splice_Site_p.R478*|ARHGAP12_ENST00000375245.4_Splice_Site_p.R431*	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R483*(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGTACTTACCGAACCTTTTTC	0.269000													5	17					0	0	8.12818e-05	0	0
SPO11	23626	broad.mit.edu	37	20	55905017	55905017	+	Silent	SNP	A	A	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:55905017A>C	ENST00000371263.3	+	1	203	c.94A>C	c.(94-96)Agg>Cgg	p.R32R	SPO11_ENST00000345868.4_Silent_p.R32R|SPO11_ENST00000371260.4_Silent_p.R32R	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	32					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GAGAGGTGGCAGGGAGCCCCC	0.657000								Editing and processing nucleases					5	8					0	0	1.23904e-05	0	0
ZNF536	9745	broad.mit.edu	37	19	30934512	30934512	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:30934512C>A	ENST00000355537.3	+	2	190	c.43C>A	c.(43-45)Ccg>Acg	p.P15T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCGGCGGAGCCGGAAGCTGA	0.612000													35	73					6.53348e-20	2.74583e-18	0.000109025	1	0
MYBPC2	4606	broad.mit.edu	37	19	50961883	50961883	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:50961883G>C	ENST00000357701.5	+	21	2429	c.2378G>C	c.(2377-2379)cGc>cCc	p.R793P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	793	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCGTGGAGCGCTGTGGCTTC	0.667000													15	15					0	0	7.07596e-05	0	0
DDX50	79009	broad.mit.edu	37	10	70672937	70672937	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:70672937C>A	ENST00000373585.3	+	5	766	c.659C>A	c.(658-660)aCa>aAa	p.T220K		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	220	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTGGCTCCAACAAGGGAACTG	0.358000													10	17					4.68919e-08	1.84017e-06	3.86212e-05	1	0
LEF1	51176	broad.mit.edu	37	4	109088746	109088746	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:109088746C>G	ENST00000379951.2	-	1	1366	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	LEF1_ENST00000265165.1_Missense_Mutation_p.E60Q|LEF1_ENST00000438313.2_Missense_Mutation_p.E60Q|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	60	CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATTTCAGACTCGTTCACCAAG	0.587000													22	49					0	0	0.000229342	0	0
DDX42	11325	broad.mit.edu	37	17	61869907	61869907	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:61869907C>T	ENST00000578681.1	+	4	958	c.357C>T	c.(355-357)ttC>ttT	p.F119F	DDX42_ENST00000389924.2_Silent_p.F119F|DDX42_ENST00000583590.1_Silent_p.F119F|DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000457800.2_Silent_p.F119F	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	119					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGGAGGCATTCATGGCTGAAG	0.368000													29	39					0	0	7.24521e-05	0	0
NEDD9	4739	broad.mit.edu	37	6	11213600	11213600	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:11213600C>G	ENST00000379446.5	-	2	539	c.373G>C	c.(373-375)Ggc>Cgc	p.G125R	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G125R|NEDD9_ENST00000379433.5_Missense_Mutation_p.G125R	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	125	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TCTTGGGTGCCGTGGCCAGTG	0.532000													32	56					0	0	5.84002e-05	0	0
ABHD11	83451	broad.mit.edu	37	7	73153123	73153123	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:73153123C>T	ENST00000222800.3	-	1	74	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	ABHD11_ENST00000395147.4_Missense_Mutation_p.R2Q|ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000437775.2_Missense_Mutation_p.R2Q|ABHD11_ENST00000458339.1_Missense_Mutation_p.R2Q	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	2							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTGGCCGGCTCGCATCTCACA	0.692000													8	5					0	0	1.12685e-05	0	0
POPDC2	64091	broad.mit.edu	37	3	119367224	119367224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:119367224G>A	ENST00000493094.1	-	3	1351	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Nonsense_Mutation_p.Q298*|POPDC2_ENST00000264231.3_Nonsense_Mutation_p.Q298*|POPDC2_ENST00000538678.1_Nonsense_Mutation_p.Q298*			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	298						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612000													17	36					0	0	7.07596e-05	0	0
SNRPB	6628	broad.mit.edu	37	20	2442430	2442430	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:2442430G>A	ENST00000438552.2	-	7	857	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	232	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CATTCCCGGGGGAGGGGGCCC	0.547000													19	34					0	0	3.10358e-05	0	0
SMARCA2	6595	broad.mit.edu	37	9	2110374	2110374	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:2110374C>T	ENST00000382203.1	+	24	3622	c.3413C>T	c.(3412-3414)gCt>gTt	p.A1138V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1138V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1138V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1138V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1138	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTCAGGCAGCTGATACAGTG	0.498000													8	25					0	0	1.12685e-05	0	0
TM4SF1	4071	broad.mit.edu	37	3	149089639	149089639	+	Silent	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:149089639G>C	ENST00000472441.1	-	2	285	c.162C>G	c.(160-162)acC>acG	p.T54T	TM4SF1_ENST00000305366.3_Silent_p.T143T			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	143						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCATGTGGAGGTATCCAGAA	0.418000													9	9					0	0	1.12685e-05	0	0
SPATA21	374955	broad.mit.edu	37	1	16736386	16736386	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:16736386A>T	ENST00000335496.1	-	6	779	c.297T>A	c.(295-297)caT>caA	p.H99Q	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.H76Q	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	99							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGCTCTCCGATGGGAGGCCT	0.657000													17	19					0	0	5.01169e-05	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38196111	38196111	+	Missense_Mutation	SNP	C	C	G	rs139038133		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:38196111C>G	ENST00000317025.8	-	3	1207	c.690G>C	c.(688-690)agG>agC	p.R230S	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R230S|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R230S|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R230S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	230					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGTGTCAACCCTCTCATTTG	0.343000			T	NUP98	AML								21	86					0	0	0.000229342	0	0
HIATL1	84641	broad.mit.edu	37	9	97200686	97200686	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:97200686C>G	ENST00000375344.3	+	4	540	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	HIATL1_ENST00000428393.2_Missense_Mutation_p.L26V	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	91					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTCCAGGGCCTGCTCTCTTT	0.433000													23	34					0	0	4.16121e-05	0	0
UGDH	7358	broad.mit.edu	37	4	39507352	39507352	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:39507352T>G	ENST00000316423.6	-	8	1265	c.923A>C	c.(922-924)gAc>gCc	p.D308A	UGDH_ENST00000501493.2_Missense_Mutation_p.D241A|UGDH_ENST00000507089.1_Missense_Mutation_p.D211A|UGDH_ENST00000506179.1_Missense_Mutation_p.D308A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	308					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CCTCTGGTAGTCATTCATGTC	0.368000													18	55					0	0	9.7654e-05	0	0
ANP32A	8125	broad.mit.edu	37	15	69079795	69079795	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:69079795A>G	ENST00000465139.2	-	3	427	c.284T>C	c.(283-285)tTa>tCa	p.L95S	ANP32A_ENST00000560303.1_Missense_Mutation_p.L95S|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	95					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTTGCCACTTAAATTTAGATG	0.483000													32	48					0	0	5.84002e-05	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116000	129116000	+	RNA	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:129116000A>G	ENST00000514355.1	-	0	412																				lung(1)	1						GGGAAGAAGTAGCCCCAGGTG	0.542000													5	107					0	0	8.12818e-05	0	0
PNLIP	5406	broad.mit.edu	37	10	118314964	118314964	+	Silent	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:118314964T>A	ENST00000369221.2	+	8	784	c.756T>A	c.(754-756)ccT>ccA	p.P252P		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	252					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGAAATGCCTGGATGTAAAA	0.403000													13	63					0	0	0.00010058	0	0
SRSF1	6426	broad.mit.edu	37	17	56084341	56084341	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:56084341C>A	ENST00000582730.2	-	1	281	c.158G>T	c.(157-159)gGa>gTa	p.G53V	SRSF1_ENST00000258962.4_Missense_Mutation_p.G53V|SRSF1_ENST00000584773.1_Missense_Mutation_p.G53V|SRSF1_ENST00000585096.1_Missense_Mutation_p.G53V	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	53	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	p.G53E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGGGCGGTCCCCCGCGGCG	0.587000													33	59					2.08457e-15	8.58676e-14	4.66903e-05	1	0
TTC37	9652	broad.mit.edu	37	5	94803602	94803602	+	Silent	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:94803602A>G	ENST00000358746.2	-	42	4886	c.4588T>C	c.(4588-4590)Tta>Cta	p.L1530L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1530							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTGGCATATAAGTGTCTCAGT	0.358000													13	13					0	0	2.31682e-05	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746354	23746354	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:23746354T>C	ENST00000357460.5	-	2	247	c.83A>G	c.(82-84)aAt>aGt	p.N28S	HOMEZ_ENST00000431326.2_Missense_Mutation_p.N30S|HOMEZ_ENST00000561013.1_Missense_Mutation_p.N30S	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCTCTTTATTAGGAGGCAT	0.532000													7	8					0	0	8.12818e-05	0	0
IFT140	9742	broad.mit.edu	37	16	1574789	1574789	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:1574789T>A	ENST00000426508.2	-	23	3356	c.2993A>T	c.(2992-2994)cAg>cTg	p.Q998L	IFT140_ENST00000361339.5_Missense_Mutation_p.Q192L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	998										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCTTACCTTCTGGACATTGCC	0.637000													22	43					0	0	3.10358e-05	0	0
PCDH12	51294	broad.mit.edu	37	5	141324964	141324964	+	Silent	SNP	G	G	A	rs72111736		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:141324964G>A	ENST00000231484.3	-	4	4747	c.3537C>T	c.(3535-3537)agC>agT	p.S1179S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1179	Poly-Ser.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACctgctgctgctgctgctgc	0.552000													8	4					0	0	1.12685e-05	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517912	84517912	+	RNA	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:84517912G>A	ENST00000331369.5	+	0	106																											CAGATCCCCTGCGTGTGTCCT	0.602000													7	12					0	0	8.12818e-05	0	0
WDR64	128025	broad.mit.edu	37	1	241951219	241951219	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:241951219A>G	ENST00000366552.2	+	23	2951	c.2744A>G	c.(2743-2745)cAg>cGg	p.Q915R	WDR64_ENST00000437684.2_Missense_Mutation_p.Q748R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	915										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAATTATCACAGACAAGAGAT	0.388000													24	77					0	0	4.16121e-05	0	0
PCIF1	63935	broad.mit.edu	37	20	44569553	44569553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr20:44569553C>T	ENST00000372409.3	+	6	857	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	165						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AGATAAACAGCAGGCAGCTCT	0.597000													35	44					0	0	0.000109025	0	0
PARD3	56288	broad.mit.edu	37	10	34666900	34666900	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:34666900T>C	ENST00000374789.3	-	10	1859	c.1534A>G	c.(1534-1536)Ata>Gta	p.I512V	PARD3_ENST00000374794.3_Missense_Mutation_p.I468V|PARD3_ENST00000545260.1_Missense_Mutation_p.I468V|PARD3_ENST00000340077.5_Missense_Mutation_p.I512V|PARD3_ENST00000545693.1_Missense_Mutation_p.I512V|PARD3_ENST00000374790.3_Missense_Mutation_p.I468V|PARD3_ENST00000374788.3_Missense_Mutation_p.I512V|PARD3_ENST00000350537.4_Missense_Mutation_p.I512V|PARD3_ENST00000544292.1_Missense_Mutation_p.I242V|PARD3_ENST00000374776.1_Missense_Mutation_p.I512V|PARD3_ENST00000374773.1_Missense_Mutation_p.I512V|PARD3_ENST00000346874.4_Missense_Mutation_p.I512V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	512	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTTACCTCTATAAGTCTGTCT	0.438000													33	77					0	0	0.000159656	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037007	48037007	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:48037007G>A	ENST00000295461.5	+	5	637	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	191						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGCCCCACAAGAAGAGGAAGT	0.398000													27	33					0	0	3.70037e-05	0	0
PROM1	8842	broad.mit.edu	37	4	16020042	16020042	+	Silent	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:16020042G>C	ENST00000505450.1	-	8	1491	c.879C>G	c.(877-879)ctC>ctG	p.L293L	PROM1_ENST00000447510.2_Silent_p.L302L|PROM1_ENST00000508167.1_Silent_p.L293L|PROM1_ENST00000543373.1_Silent_p.L293L|PROM1_ENST00000510224.1_Silent_p.L302L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Silent_p.L302L|PROM1_ENST00000540805.1_Silent_p.L302L	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	302					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GAGGGTCATTGAGAGATGACC	0.498000													7	18					0	0	8.12818e-05	0	0
LZTS1	11178	broad.mit.edu	37	8	20110614	20110614	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:20110614G>A	ENST00000381569.1	-	3	1185	c.828C>T	c.(826-828)gcC>gcT	p.A276A	LZTS1_ENST00000265801.6_Silent_p.A276A|LZTS1_ENST00000522290.1_Silent_p.A276A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	276					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTTCTGGAGGGCGCCCTCCC	0.677000													21	11					0	0	0.000132079	0	0
KLF5	688	broad.mit.edu	37	13	73636204	73636204	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr13:73636204C>G	ENST00000377687.4	+	2	1003	c.467C>G	c.(466-468)cCg>cGg	p.P156R	KLF5_ENST00000539231.1_Missense_Mutation_p.P65R|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	156					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCCAGAGACCGTGCGTAACA	0.532000													5	121					0	0	1.23904e-05	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146367	10146367	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:10146367T>A	ENST00000450660.2	-	2	308	c.92A>T	c.(91-93)cAc>cTc	p.H31L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.H31L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		CTTGAATGGGTGCTTGGAGGA	0.567000													33	39					0	0	5.84002e-05	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790667	133790667	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:133790667C>T	ENST00000321016.8	-	18	3183	c.2953G>A	c.(2953-2955)Gtg>Atg	p.V985M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V985M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	985	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACTTCTGGCACGTAGAACGGG	0.701000													9	24					0	0	1.12685e-05	0	0
CPA2	1358	broad.mit.edu	37	7	129906752	129906752	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:129906752G>A	ENST00000222481.4	+	1	86	c.31G>A	c.(31-33)Gcc>Acc	p.A11T		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	11					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GTTTTTTGGTGCCCTTTTTGG	0.433000													26	44					0	0	0.000227799	0	0
TTN	7273	broad.mit.edu	37	2	179397901	179397901	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:179397901G>C	ENST00000589042.1	-	358	103665	c.103441C>G	c.(103441-103443)Ctc>Gtc	p.L34481V	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25608V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25416V|TTN_ENST00000591111.1_Missense_Mutation_p.L32840V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L25541V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31913V|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32840							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATTCTGAGGGTTTTGTCA	0.458000													24	48					0	0	3.10358e-05	0	0
FAM35A	54537	broad.mit.edu	37	10	88911708	88911708	+	Silent	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:88911708G>C	ENST00000298786.4	+	3	711	c.597G>C	c.(595-597)gtG>gtC	p.V199V	FAM35A_ENST00000298784.1_Silent_p.V199V			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	199										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GAGAGTGTGTGCCAACAGAAT	0.398000													14	27					0	0	5.01169e-05	0	0
TPP1	1200	broad.mit.edu	37	11	6638644	6638644	+	Silent	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:6638644C>G	ENST00000299427.6	-	5	456	c.396G>C	c.(394-396)ctG>ctC	p.L132L	TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	132					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCCCAGGGAGCAGCAGCTCTG	0.557000													5	28					0	0	1.23904e-05	0	0
RHOV	171177	broad.mit.edu	37	15	41165363	41165363	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:41165363T>C	ENST00000220507.4	-	3	753	c.604A>G	c.(604-606)Att>Gtt	p.I202V		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	202					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCACTGAGAATAGCCGAGTCA	0.552000													31	58					0	0	3.70037e-05	0	0
UGP2	7360	broad.mit.edu	37	2	64083559	64083559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:64083559G>T	ENST00000337130.5	+	2	615	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	UGP2_ENST00000394417.2_Nonsense_Mutation_p.E36*|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Nonsense_Mutation_p.E56*|UGP2_ENST00000467648.2_Nonsense_Mutation_p.E36*	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	47					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATCATCACATGAATTTGAGGT	0.458000													66	97					1.30681e-28	5.62516e-27	0.000147903	1	0
CP	1356	broad.mit.edu	37	3	148896413	148896413	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:148896413G>A	ENST00000264613.6	-	16	2929	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	889	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCCACTGTAGAGGTCCTGGA	0.423000													8	11					0	0	1.12685e-05	0	0
MAD1L1	8379	broad.mit.edu	37	7	1855851	1855851	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:1855851G>A	ENST00000406869.1	-	19	2569	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	MAD1L1_ENST00000399654.2_Missense_Mutation_p.S671L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.S671L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.S579L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	671					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTTGGAACCCGAGGGGCTGGT	0.647000													27	41					0	0	0.000117367	0	0
TFDP2	7029	broad.mit.edu	37	3	141671821	141671821	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:141671821T>C	ENST00000499676.2	-	12	1580	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TFDP2_ENST00000310282.6_Silent_p.L303L|TFDP2_ENST00000489671.1_Silent_p.L363L|TFDP2_ENST00000397991.4_Silent_p.L335L|TFDP2_ENST00000317104.7_Silent_p.L287L|TFDP2_ENST00000477292.1_Silent_p.L227L|TFDP2_ENST00000486111.1_Silent_p.L303L|TFDP2_ENST00000467072.1_Silent_p.L303L|TFDP2_ENST00000479040.1_Silent_p.L302L|TFDP2_ENST00000495310.1_Silent_p.L266L	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	363	DCB2.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						AGTTCAGAAGTAGTCCCTGAT	0.418000													37	48					0	0	7.51294e-05	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933678	209933678	+	Silent	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:209933678C>G	ENST00000367024.1	+	3	810	c.294C>G	c.(292-294)gtC>gtG	p.V98V	TRAF3IP3_ENST00000010338.4_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000367025.3_Silent_p.V98V|TRAF3IP3_ENST00000400959.3_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	98						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGGTGACTGTCCTCAAGGAAC	0.602000													7	13					0	0	8.12818e-05	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147997	82147997	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:82147997T>A	ENST00000550584.2	-	2	299	c.4A>T	c.(4-6)Atg>Ttg	p.M2L	PPFIA2_ENST00000333447.7_Missense_Mutation_p.M2L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.M2L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M2L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M2L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M2L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	0										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTTCACACATCATTGCTTAA	0.408000													4	9					0	0	0.00024832	0	0
SUGP2	10147	broad.mit.edu	37	19	19136753	19136753	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:19136753T>C	ENST00000601879.1	-	3	701	c.404A>G	c.(403-405)gAc>gGc	p.D135G	SUGP2_ENST00000452918.2_Missense_Mutation_p.D135G|SUGP2_ENST00000337018.6_Missense_Mutation_p.D135G|SUGP2_ENST00000456085.2_Missense_Mutation_p.T37A|SUGP2_ENST00000600377.1_Missense_Mutation_p.D149G|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	135					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AAATTTCCAGTCCTGAGAACG	0.498000													8	60					0	0	0.000157383	0	0
ZNF280D	54816	broad.mit.edu	37	15	56924088	56924088	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:56924088C>G	ENST00000559237.1	-	21	3192	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E850Q	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATCTTCAACTCCATTTCCTGA	0.348000													14	37					0	0	0.000219431	0	0
ALG12	79087	broad.mit.edu	37	22	50304122	50304122	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:50304122G>A	ENST00000330817.6	-	4	702	c.429C>T	c.(427-429)taC>taT	p.Y143Y		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGCGTGCAGTAGAACATCA	0.632000													16	23					0	0	2.31682e-05	0	0
PRKDC	5591	broad.mit.edu	37	8	48772246	48772246	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:48772246A>T	ENST00000314191.2	-	47	6186	c.6130T>A	c.(6130-6132)Ttc>Atc	p.F2044I	PRKDC_ENST00000338368.3_Missense_Mutation_p.F2044I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2045					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCGGTTGAGAAATCAAATTGA	0.418000								Non-homologous end-joining					23	14					0	0	4.16121e-05	0	0
ZRANB2	9406	broad.mit.edu	37	1	71532583	71532583	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:71532583G>C	ENST00000370920.3	-	9	1106	c.805C>G	c.(805-807)Cca>Gca	p.P269A	ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000477096.1_5'UTR|ZRANB2_ENST00000254821.6_Missense_Mutation_p.P269A|ZRANB2-AS1_ENST00000426999.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	269	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTTTTTCGTGGGGAAGAAGAG	0.378000													11	22					0	0	0.00010058	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:154988705G>T	ENST00000368426.3	+	4	1301	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K422N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K388N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K388N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.K388N(2)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632000													19	35					5.35267e-07	2.06152e-05	9.7654e-05	1	0
USP38	84640	broad.mit.edu	37	4	144136132	144136132	+	Silent	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:144136132A>T	ENST00000510377.1	+	9	3537	c.3003A>T	c.(3001-3003)atA>atT	p.I1001I	USP38_ENST00000307017.4_Intron			Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TGTTGAAAATATTAAACAATT	0.289000													7	14					0	0	0.000157383	0	0
GLI2	2736	broad.mit.edu	37	2	121555001	121555001	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:121555001G>T	ENST00000452319.1	+	2	165	c.105G>T	c.(103-105)ttG>ttT	p.L35F	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.L35F			P10070	GLI2_HUMAN	GLI family zinc finger 2	35					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCTCCTTTGGTGGTGGCTG	0.592000													37	51					4.11147e-13	1.66602e-11	0.000109025	1	0
SORCS2	57537	broad.mit.edu	37	4	7668850	7668850	+	Splice_Site	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:7668850G>T	ENST00000507866.2	+	8	1180		c.e8-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCCGGTTAGGCAACATCAG	0.423000													52	56					1.57914e-17	6.54818e-16	0.000147903	1	0
FCAR	2204	broad.mit.edu	37	19	55401192	55401192	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:55401192G>C	ENST00000355524.3	+	5	837	c.827G>C	c.(826-828)gGa>gCa	p.G276A	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.G168A|FCAR_ENST00000353758.4_Missense_Mutation_p.G167A|FCAR_ENST00000391724.3_Missense_Mutation_p.G242A|FCAR_ENST00000359272.4_Missense_Mutation_p.G264A|FCAR_ENST00000345937.4_Missense_Mutation_p.G180A|FCAR_ENST00000391725.3_Missense_Mutation_p.G254A|FCAR_ENST00000391723.3_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	276					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGTCAGCCAGGATTGACCTTT	0.532000													44	77					0	0	0.000147903	0	0
PDE12	201626	broad.mit.edu	37	3	57543210	57543210	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:57543210C>T	ENST00000311180.8	+	1	1207	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	PDE12_ENST00000487257.1_Silent_p.F368F	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	368							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TAGAGGCCTTCGGGCTCGAGG	0.537000													15	18					0	0	2.31682e-05	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515686	70515686	+	Silent	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:70515686C>T	ENST00000381269.2	-	7	2958	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	SLC8A3_ENST00000356921.2_Silent_p.L729L|SLC8A3_ENST00000216568.7_Silent_p.L106L|SLC8A3_ENST00000357887.3_Silent_p.L733L|SLC8A3_ENST00000528359.1_Silent_p.L733L|SLC8A3_ENST00000394330.2_Silent_p.L92L|SLC8A3_ENST00000533541.1_Silent_p.L92L|SLC8A3_ENST00000534137.1_Silent_p.L732L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	735					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)		AGAAGACAGTCAGGAAGTGCA	0.567000													13	18					0	0	0.00010058	0	0
NSD1	64324	broad.mit.edu	37	5	176637349	176637349	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:176637349A>G	ENST00000439151.2	+	5	1994	c.1949A>G	c.(1948-1950)gAt>gGt	p.D650G	NSD1_ENST00000347982.4_Missense_Mutation_p.D381G|NSD1_ENST00000361032.4_Missense_Mutation_p.D547G|NSD1_ENST00000354179.4_Missense_Mutation_p.D381G	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	650					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTGACCTGGATCCCATAGAA	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			27	16					0	0	0.000147802	0	0
ENPP3	5169	broad.mit.edu	37	6	131995467	131995467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:131995467C>T	ENST00000427148.2	+	9	1017	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000543135.1_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	0	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTCCATTTCTCAGTGTGACAG	0.443000													14	6					0	0	5.01169e-05	0	0
PTGER4	5734	broad.mit.edu	37	5	40681629	40681629	+	Silent	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr5:40681629G>A	ENST00000302472.3	+	2	1558	c.534G>A	c.(532-534)gtG>gtA	p.V178V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	178					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCACCAACGTGACGGCGCACG	0.632000													12	29					0	0	0.00010058	0	0
CCIN	881	broad.mit.edu	37	9	36170177	36170177	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:36170177T>A	ENST00000335119.2	+	1	789	c.678T>A	c.(676-678)aaT>aaA	p.N226K		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	226	BACK.			N -> S (in Ref. 1; AAK20829).	cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCAATCTCAATGCTGTCTCCA	0.488000													12	23					0	0	0.00010058	0	0
SCG3	29106	broad.mit.edu	37	15	52011617	52011617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:52011617C>G	ENST00000220478.3	+	12	1704	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	SCG3_ENST00000542355.2_Nonsense_Mutation_p.S202*	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	434					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATGACCTTTCAAAGATGAGA	0.388000													11	22					0	0	3.86212e-05	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47010018	47010018	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr18:47010018C>T	ENST00000584895.1	-	6	645	c.631G>A	c.(631-633)Gta>Ata	p.V211I	RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.V173I|C18orf32_ENST00000579820.1_Missense_Mutation_p.R34H|C18orf32_ENST00000318240.3_Missense_Mutation_p.R34H|C18orf32_ENST00000582392.1_Missense_Mutation_p.R34H	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					AGGCCATATACGACTAACGAA	0.393000													42	29					0	0	0.000270559	0	0
XPO7	23039	broad.mit.edu	37	8	21844747	21844747	+	Missense_Mutation	SNP	G	G	A	rs145466010	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:21844747G>A	ENST00000434536.1	+	14	1802	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	XPO7_ENST00000252512.9_Missense_Mutation_p.R558H|XPO7_ENST00000433566.4_Missense_Mutation_p.R559H			Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAACAGTTTCGTAAGATCTAC	0.483000													26	18					0	0	7.16444e-05	0	0
ZNF664	144348	broad.mit.edu	37	12	124496863	124496863	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:124496863G>T	ENST00000539644.1	+	6	2002	c.172G>T	c.(172-174)Gtc>Ttc	p.V58F	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.V58F|ZNF664_ENST00000392404.3_Missense_Mutation_p.V58F|ZNF664_ENST00000337815.4_Missense_Mutation_p.V58F			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AGGAGAGAAGGTCTATAAATG	0.368000													41	13					6.48837e-15	2.66387e-13	8.96297e-05	1	0
USPL1	10208	broad.mit.edu	37	13	31205538	31205538	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr13:31205538A>G	ENST00000255304.4	+	4	1137	c.795A>G	c.(793-795)atA>atG	p.I265M	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	265					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGGAATCTATATTCTGGCGGT	0.378000													25	58					0	0	0.000117367	0	0
CELSR3	1951	broad.mit.edu	37	3	48697836	48697836	+	Silent	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:48697836C>A	ENST00000544264.1	-	1	2512	c.2232G>T	c.(2230-2232)gtG>gtT	p.V744V	CELSR3_ENST00000164024.4_Silent_p.V744V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	744	Cadherin 4.				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)		CCAGCACAGTCACGGTGACAC	0.567000													20	35					4.96729e-08	1.94318e-06	0.000132079	1	0
ATP8A1	10396	broad.mit.edu	37	4	42457570	42457570	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:42457570T>A	ENST00000381668.5	-	28	2897	c.2666A>T	c.(2665-2667)gAa>gTa	p.E889V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E874V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	889					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACACCATCTTTCAAAGAGGAT	0.368000													10	12					0	0	6.40141e-05	0	0
LRRC28	123355	broad.mit.edu	37	15	99796162	99796162	+	Translation_Start_Site	SNP	C	C	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:99796162C>A	ENST00000301981.3	+	0	240				LRRC28_ENST00000558879.1_De_novo_Start_InFrame|LRRC28_ENST00000331450.5_De_novo_Start_InFrame|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000442993.2_De_novo_Start_InFrame|LRRC28_ENST00000422500.2_De_novo_Start_InFrame|LRRC28_ENST00000447360.2_De_novo_Start_InFrame	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28											endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATATTCAGTCATGGCGTCCG	0.368000													16	29					1.15088e-07	4.47404e-06	3.45872e-05	1	0
LPAL2	80350	broad.mit.edu	37	6	160898312	160898312	+	RNA	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr6:160898312C>T	ENST00000335388.5	-	0	1353					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGGGTTTGCTCAGTTGGTGCT	0.433000													14	17					0	0	0.000151284	0	0
LOC146880	146880	broad.mit.edu	37	17	62758706	62758706	+	RNA	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:62758706G>A	ENST00000400873.3	-	0	1239					NR_026899.1																						AGTATTGATTGTGGTAGACGC	0.403000													16	29					0	0	3.45872e-05	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929876	42929876	+	Silent	SNP	T	T	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:42929876T>C	ENST00000426333.2	-	26	2913	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	EFTUD2_ENST00000402521.3_Silent_p.K837K|EFTUD2_ENST00000591382.1_Silent_p.K872K|EFTUD2_ENST00000592576.1_Silent_p.K862K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	872						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATAAAAGCTTTGATGGTGT	0.537000													15	29					0	0	3.45872e-05	0	0
DTX3	196403	broad.mit.edu	37	12	58001053	58001053	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:58001053G>A	ENST00000548198.1	+	3	1911	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	DTX3_ENST00000548804.1_Missense_Mutation_p.R136Q|DTX3_ENST00000551632.1_Missense_Mutation_p.R139Q|DTX3_ENST00000337737.3_Missense_Mutation_p.R136Q			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	136	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCAGGAGCTCGGGGGctcccc	0.716000													6	7					0	0	3.59834e-05	0	0
EIF5	1983	broad.mit.edu	37	14	103802255	103802255	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:103802255C>T	ENST00000216554.3	+	3	734	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	EIF5_ENST00000392715.2_Missense_Mutation_p.R20C|EIF5_ENST00000558506.1_Missense_Mutation_p.R20C|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	20					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAAGATGCCCCGTCTGATTGC	0.388000													27	63					0	0	3.70037e-05	0	0
ANXA2	302	broad.mit.edu	37	15	60674551	60674551	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:60674551G>C	ENST00000396024.3	-	4	297	c.138C>G	c.(136-138)atC>atG	p.I46M	ANXA2_ENST00000332680.4_Missense_Mutation_p.I64M|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000451270.2_Missense_Mutation_p.I46M|ANXA2_ENST00000421017.2_Missense_Mutation_p.I46M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	46					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTTTGGTCTTGATGGCTGTTT	0.438000													13	18					0	0	0.000151284	0	0
SLC25A42	284439	broad.mit.edu	37	19	19206934	19206934	+	Translation_Start_Site	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:19206934A>T	ENST00000318596.7	+	2	152	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	1					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CAGGCCTGGTATGGGTAATGG	0.602000													9	18					0	0	3.86212e-05	0	0
TACC3	10460	broad.mit.edu	37	4	1725503	1725503	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:1725503A>T	ENST00000313288.4	+	3	317	c.211A>T	c.(211-213)Agt>Tgt	p.S71C		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	71						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGATTCTAAGTCCTAGCAT	0.502000													13	18					0	0	0.00010058	0	0
SNHG1	23642	broad.mit.edu	37	11	62622817	62622817	+	RNA	SNP	G	G	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:62622817G>A	ENST00000384147.1	-	0	21					NR_002564.1																						AGAGAGTTCAGTTCGTAAAAT	0.428000													21	33					0	0	3.10358e-05	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652000													5	43					0	0	1.12685e-05	0	0
FBXO43	286151	broad.mit.edu	37	8	101154370	101154370	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:101154370T>A	ENST00000428847.2	-	2	428	c.112A>T	c.(112-114)Agg>Tgg	p.R38W		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	38					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCTGAGTGCCTTTGCGACATC	0.428000													9	80					0	0	3.86212e-05	0	0
ATM	472	broad.mit.edu	37	11	108128335	108128335	+	Splice_Site	SNP	T	T	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:108128335T>A	ENST00000278616.4	+	15	2761		c.e15+2		ATM_ENST00000452508.2_Splice_Site	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTACCAAGGTAAGAttttct	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	13					0	0	0.000219431	0	0
UTY	7404	broad.mit.edu	37	Y	15591141	15591141	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrY:15591141A>G	ENST00000331397.4	-	2	1216	c.209T>C	c.(208-210)cTa>cCa	p.L70P	UTY_ENST00000382893.1_Missense_Mutation_p.L70P|UTY_ENST00000329134.5_Missense_Mutation_p.L70P|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000540140.1_Missense_Mutation_p.L70P|UTY_ENST00000538878.1_Missense_Mutation_p.L70P|UTY_ENST00000382896.4_Missense_Mutation_p.L70P|UTY_ENST00000545955.1_Missense_Mutation_p.L70P|UTY_ENST00000537580.1_Missense_Mutation_p.L70P|UTY_ENST00000362096.4_Missense_Mutation_p.L70P	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	70					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TACCTTGCCTAGTAGGGTCTT	0.517000													31	7					0	0	8.91981e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	304	---	---	---	---					
SPTBN1	6711	broad.mit.edu	37	2	54858669	54858670	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr2:54858669_54858670delAA	ENST00000333896.5	+	15	3831_3832	c.3446_3447delAA	c.(3445-3447)caafs	p.Q1149fs	SPTBN1_ENST00000356805.4_Frame_Shift_Del_p.Q1162fs	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1162					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGACAAAATCTCCTAT	0.545													32	49	---	---	---	---					
TBL1XR1	79718	broad.mit.edu	37	3	176769341	176769342	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr3:176769341_176769342insT	ENST00000430069.1	-	5	636_637	c.377_378insA	c.(376-378)aatfs	p.N126fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.N126fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGTTTTCTCCATTTTTTGCAGA	0.416													52	92	---	---	---	---					
MANBA	4126	broad.mit.edu	37	4	103571747	103571749	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr4:103571747_103571749delGGA	ENST00000226578.4	-	13	1913_1915	c.1814_1816delTCC	c.(1813-1818)ctcccc>ccc	p.L605del	MANBA_ENST00000505239.1_In_Frame_Del_p.L548del	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	605					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTGCTTTGGGGGAGTTTGAAATG	0.389													36	72	---	---	---	---					
ZNF716	441234	broad.mit.edu	37	7	57528796	57528799	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr7:57528796_57528799delAGAA	ENST00000420713.1	+	4	741_744	c.629_632delAGAA	c.(628-633)gagaagfs	p.EK210fs		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATACTAGGGAGAAGTCTTACAAA	0.358													8	7	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144621405	144621424	+	Frame_Shift_Del	DEL	GTAAGTGGGTGGCTGCCACC	GTAAGTGGGTGGCTGCCACC	-	rs138644855	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr8:144621405_144621424delGTAAGTGGGTGGCTGCCACC	ENST00000262577.5	-	2	144_163	c.113_132delGGTGGCAGCCACCCACTTAC	c.(112-132)gggtggcagccacccacttacfs	p.GWQPPTY38fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	38					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCCACTGTGGTAAGTGGGTGGCTGCCACCCAGAAGCTGC	0.600													16	107	---	---	---	---					
LMX1B	4010	broad.mit.edu	37	9	129455441	129455441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr9:129455441delG	ENST00000355497.5	+	4	587	c.580delG	c.(580-582)gggfs	p.G194fs	LMX1B_ENST00000561065.1_Frame_Shift_Del_p.G171fs|LMX1B_ENST00000373474.4_Frame_Shift_Del_p.G194fs|LMX1B_ENST00000526117.1_Frame_Shift_Del_p.G194fs|LMX1B_ENST00000425646.2_Frame_Shift_Del_p.G171fs	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	171					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GGATGAAGATGGGGACATGAA	0.672									Nail-Patella Syndrome				2	4	---	---	---	---					
MMRN2	79812	broad.mit.edu	37	10	88696577	88696578	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr10:88696577_88696578insA	ENST00000372027.5	-	7	3093_3094	c.2772_2773insT	c.(2770-2775)tttgagfs	p.E925fs		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2		C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGGGTTAACTCAAACCATACTC	0.540													82	152	---	---	---	---					
C11orf42	160298	broad.mit.edu	37	11	6231723	6231731	+	In_Frame_Del	DEL	CATCAGCAC	CATCAGCAC	-	rs10769671	byFrequency	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:6231723_6231731delCATCAGCAC	ENST00000316375.2	+	2	766_774	c.716_724delCATCAGCAC	c.(715-726)acatcagcacct>act	p.SAP240del		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	240	Pro-rich.									endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCCCCACATCAGCACCTGCTGATAC	0.617													19	91	---	---	---	---					
CTNND1	1500	broad.mit.edu	37	11	57571162	57571172	+	Frame_Shift_Del	DEL	TGACAGATGAA	TGACAGATGAA	-	rs139640030	by1000genomes	TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr11:57571162_57571172delTGACAGATGAA	ENST00000524630.1	+	8	2003_2013	c.1490_1500delTGACAGATGAA	c.(1489-1500)ttgacagatgaafs	p.LTDE497fs	CTNND1_ENST00000532649.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.LTDE174fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.LTDE174fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.LTDE174fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.LTDE174fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.LTDE497fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.LTDE443fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.LTDE174fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.LTDE396fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.LTDE497fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	497					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.E500*(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTGCATGCCTTGACAGATGAAGTGATCATTC	0.493													12	17	---	---	---	---					
LTBR	4055	broad.mit.edu	37	12	6493796	6493797	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr12:6493796_6493797insA	ENST00000228918.4	+	2	465_466	c.139_140insA	c.(139-141)gaafs	p.E47fs	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000539925.1_Frame_Shift_Ins_p.E28fs|LTBR_ENST00000543190.1_5'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	47					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CAGGGACCAGGAAAAGGAATAC	0.594													21	28	---	---	---	---					
VCPKMT	79609	broad.mit.edu	37	14	50582875	50582876	+	Frame_Shift_Ins	INS	-	-	TAGTC			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:50582875_50582876insTAGTC	ENST00000395860.2	-	2	292_293	c.288_289insGACTA	c.(286-291)gatcttfs	p.L97fs	VCPKMT_ENST00000395859.2_Frame_Shift_Ins_p.L97fs	NM_024558.2	NP_078834.2			valosin containing protein lysine (K) methyltransferase	97																	AATTCCTCAAGATCGGTGACTA	0.465													12	56	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:69256455delC	ENST00000439696.2	-	2	1113	c.812delG	c.(811-813)ggtfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	66	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256615	69256626	+	In_Frame_Del	DEL	CGGTGGCAGCGG	CGGTGGCAGCGG	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:69256615_69256626delCGGTGGCAGCGG	ENST00000439696.2	-	2	942_953	c.641_652delCCGCTGCCACCG	c.(640-654)gccgctgccaccggg>ggg	p.AAAT214del	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_In_Frame_Del_p.AAAT214del	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	214					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCCAGCAGCCcggtggcagcggcggtggcagc	0.679											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	68	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256836	69256857	+	Frame_Shift_Del	DEL	AGCTCGTGGATGCCGTGTGCGA	AGCTCGTGGATGCCGTGTGCGA	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr14:69256836_69256857delAGCTCGTGGATGCCGTGTGCGA	ENST00000439696.2	-	2	711_732	c.410_431delTCGCACACGGCATCCACGAGCT	c.(409-432)ttcgcacacggcatccacgagctcfs	p.FAHGIHEL137fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.FAHGIHEL137fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	137					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGCTGCGGAGCTCGTGGATGCCGTGTGCGAACTGGCACTT	0.649											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	121	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22710115	22710116	+	RNA	INS	-	-	C			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:22710115_22710116insC	ENST00000314246.8	-	0	961																											CCCTCCCTCTGAACACCTCACC	0.550													2	4	---	---	---	---					
NR2F2	7026	broad.mit.edu	37	15	96875543	96875545	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr15:96875543_96875545delAGC	ENST00000394166.3	+	1	1598_1600	c.209_211delAGC	c.(208-213)aagcag>aag	p.Q75del	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	75	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.Q75delQ(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGTAGCGACAAGCAGCAGCAGCA	0.695													2	4	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507390	28507391	+	In_Frame_Ins	INS	-	-	GGA	rs80028858		TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:28507390_28507391insGGA	ENST00000564831.1	+	2	1061_1062	c.1028_1029insGGA	c.(1027-1032)ggggag>ggGGAggag	p.344_345insE	APOBR_ENST00000431282.1_In_Frame_Ins_p.344_345insE|APOBR_ENST00000328423.5_In_Frame_Ins_p.344_345insE	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	344	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGCGGGGAGGCTGGGA	0.718													5	7	---	---	---	---					
ADAD2	161931	broad.mit.edu	37	16	84230279	84230284	+	In_Frame_Del	DEL	TCTGCA	TCTGCA	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr16:84230279_84230284delTCTGCA	ENST00000268624.3	+	10	1892_1897	c.1799_1804delTCTGCA	c.(1798-1806)ctctgcaag>cag	p.600_602LCK>Q	RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_In_Frame_Del_p.518_520LCK>Q|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	518					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCTCCCGTCTCTGCAAGGCCTCCTT	0.621													30	84	---	---	---	---					
MIDN	90007	broad.mit.edu	37	19	1254316	1254317	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:1254316_1254317insGG	ENST00000300952.2	+	5	1050_1051	c.535_536insGG	c.(535-537)cggfs	p.R179fs	MIDN_ENST00000591446.2_Frame_Shift_Ins_p.R179fs	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	179						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGCTGCTGCGCGGGGGGACCCC	0.743													5	3	---	---	---	---					
COLGALT1	79709	broad.mit.edu	37	19	17688836	17688836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr19:17688836delG	ENST00000252599.4	+	9	1324	c.1204delG	c.(1204-1206)ggcfs	p.G402fs		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CCCCTACCACGGCCGGCCCCT	0.627													20	35	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42273239	42273239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:42273239delG	ENST00000361204.4	+	8	1559	c.1393delG	c.(1393-1395)gatfs	p.D465fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	465	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAAGGTCAAAGATGAGCCAGA	0.448													42	55	---	---	---	---					
A4GALT	53947	broad.mit.edu	37	22	43089132	43089148	+	Frame_Shift_Del	DEL	CGCCGCGGCAGGCGCGG	CGCCGCGGCAGGCGCGG	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chr22:43089132_43089148delCGCCGCGGCAGGCGCGG	ENST00000401850.1	-	2	1299_1315	c.810_826delCCGCGCCTGCCGCGGCG	c.(808-828)agccgcgcctgccgcggcgtcfs	p.RACRGV271fs	A4GALT_ENST00000381278.3_Frame_Shift_Del_p.RACRGV271fs|A4GALT_ENST00000249005.2_Frame_Shift_Del_p.RACRGV271fs			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	271					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGGGTGGTGACGCCGCGGCAGGCGCGGCTCTCGGCCA	0.659													6	12	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44918665	44918683	+	Frame_Shift_Del	DEL	GTTGTAGTAATACCTCTGC	GTTGTAGTAATACCTCTGC	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:44918665_44918683delGTTGTAGTAATACCTCTGC	ENST00000377967.4	+	12	1189_1207	c.1148_1166delGTTGTAGTAATACCTCTGC	c.(1147-1167)agttgtagtaatacctctgcafs	p.SCSNTSA383fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.SCSNTSA383fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.SCSNTSA383fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.SCSNTSA383fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	383					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAAGCAAAAGTTGTAGTAATACCTCTGCACTTGCAGCA	0.434			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								3	3	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047536	73047536	+	RNA	DEL	C	C	-			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:73047536delC	ENST00000604411.1	+	0	35497				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTAGACAGAACAAGAAAAGGA	0.408													2	4	---	---	---	---					
ELF4	2000	broad.mit.edu	37	X	129208563	129208564	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41N-01A-11D-A339-08	TCGA-KQ-A41N-10D-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef30f1b9-f26e-48dc-a079-1bfb024dbe7f	ff35fdd1-c699-435a-951c-48bffdc292fe	g.chrX:129208563_129208564insA	ENST00000308167.5	-	3	618_619	c.239_240insT	c.(238-240)ttgfs	p.L80fs	ELF4_ENST00000335997.7_Frame_Shift_Ins_p.L80fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	80					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GACCTGTCAGCAAAAAACTGCC	0.530			T	ERG	AML								18	7	---	---	---	---