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
CCR6	1235	broad.mit.edu	37	6	167550390	167550390	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:167550390T>A	ENST00000341935.5	+	3	1224	c.672T>A	c.(670-672)ttT>ttA	p.F224L	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L|CCR6_ENST00000349984.4_Missense_Mutation_p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	224					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTGGTTTCTTTATCCCTTTGA	0.458000													4	198					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267533	198267533	+	Silent	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198267533A>C	ENST00000335508.6	-	14	1915	c.1824T>G	c.(1822-1824)acT>acG	p.T608T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGAGATCATAGTAGCCAGAC	0.398000			Mis		myelodysplastic syndrome								5	128					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194027	70194027	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:70194027G>A	ENST00000550536.1	+	7	1432	c.975G>A	c.(973-975)aaG>aaA	p.K325K	RAB3IP_ENST00000553099.1_Silent_p.K103K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000247833.7_Silent_p.K309K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	325					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)			GATTGTGGAAGGATGAGCCCA	0.343000													36	80					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233791769	233791769	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:233791769G>A	ENST00000264051.3	-	4	789	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	NGEF_ENST00000373552.4_Missense_Mutation_p.L79F|NGEF_ENST00000409079.1_Missense_Mutation_p.L79F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	171	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTTCAATGAGGTTTCTCCAG	0.637000													37	66					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000452145.2_Splice_Site_p.H132R|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													5	113					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109186453	109186453	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:109186453G>C	ENST00000326495.5	-	14	1595	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R	SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	501					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTAAGCCGGGCTGGGCGGC	0.642000													5	114					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273310	26273310	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:26273310A>C	ENST00000377733.2	+	1	167	c.107A>C	c.(106-108)gAg>gCg	p.E36A		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGCCGCAAGGAGAGCTATTCC	0.577000													23	518					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348207	348207	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348207C>G	ENST00000604971.1	+	3	1172	c.59C>G	c.(58-60)tCc>tGc	p.S20C	DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577000													11	267					0	0	1	0	0
BNIP3	664	broad.mit.edu	37	10	133787409	133787409	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:133787409C>T	ENST00000540159.1	-	2	201	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	29					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACGCTGCCCCCGTTCCCATTA	0.507000													12	254					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326457	31326457	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:31326457C>T	ENST00000269197.5	+	12	6645	c.6645C>T	c.(6643-6645)tgC>tgT	p.C2215C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCTCTTGCCGGCTGAAAG	0.512000													5	146					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113311	59113311	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:59113311C>T	ENST00000395153.3	+	4	2006	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	657					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGGAGCAGGGCGCATGGCCAC	0.692000													5	18					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486434	45486434	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:45486434G>C	ENST00000359600.5	-	12	2681	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	826							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGCTTCCAGAATTGTTCGG	0.433000													11	420					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919155	21919155	+	Silent	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:21919155A>T	ENST00000240662.2	-	3	1122	c.777T>A	c.(775-777)atT>atA	p.I259I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	259						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCACCAGAAAAATGTTATTGC	0.493000													24	68					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517828	113517828	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr7:113517828A>G	ENST00000284601.3	-	4	3387	c.3319T>C	c.(3319-3321)Tgg>Cgg	p.W1107R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGATAGCCAGGACAATGAC	0.348000													12	238					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105780333	105780333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:105780333C>T	ENST00000369755.3	+	17	3954	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1137					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTCAGTTGCAGTGTGAAGC	0.458000													6	141					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884065	36884065	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:36884065G>T	ENST00000392161.3	-	5	1419	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTCGTAAGGTTTTTCACCA	0.388000													6	169					0.00116845	0.00117979	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	83					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:140230180G>C	ENST00000378122.3	+	1	2824	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662000													66	177					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91545525	91545525	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:91545525G>C	ENST00000052754.5	-	7	1292	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000441303.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	264					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTGGCCAGAGAGCCATTGTC	0.478000													31	55					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008233	71008233	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:71008233T>A	ENST00000354624.5	+	10	1452	c.1319T>A	c.(1318-1320)gTc>gAc	p.V440D	HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGCTGTGATGTCCGCTTCCTC	0.597000													11	181					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113742083	113742083	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:113742083C>T	ENST00000397030.1	+	23	2794	c.2757C>T	c.(2755-2757)taC>taT	p.Y919Y	MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375597.4_Silent_p.Y884Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	916	PH.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGATCTGGTACAACGCGCGCG	0.572000													15	52					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72298051	72298051	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:72298051G>A	ENST00000263563.6	+	12	1607	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCTGGCCTTTGCCCTCAGTTT	0.667000													9	95					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748551	94748551	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748551C>G	ENST00000399300.2	-	3	301	c.88G>C	c.(88-90)Gat>Cat	p.D30H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	30							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTCCTCCATCAGGAATAGTC	0.463000													11	301					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866506	30866506	+	Translation_Start_Site	SNP	G	G	A	rs116155456	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr22:30866506G>A	ENST00000403066.1	-	0	224				SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGGAGCCAGCGTAGAAGGAAA	0.567000													7	96					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75553847	75553847	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:75553847C>T	ENST00000238616.5	-	21	2849	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	897					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCAACCTCCACCTGCAGAG	0.512000													72	170					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688207	60688207	+	Missense_Mutation	SNP	A	A	G	rs147115751		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:60688207A>G	ENST00000335712.6	-	4	2067	c.1840T>C	c.(1840-1842)Tcg>Ccg	p.S614P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGCCCCCCGAGGCCGACTCG	0.667000			T	IGH@	B-CLL								25	42					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127635	72127635	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:72127635A>G	ENST00000340726.3	-	16	2223	c.1584T>C	c.(1582-1584)agT>agC	p.S528S	EYA1_ENST00000303824.7_Silent_p.S522S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000419131.1_Silent_p.S493S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	528					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTAGTTGCACTGTAAATAT	0.338000													15	249					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797642	93797642	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:93797642A>G	ENST00000315765.9	+	4	782	c.774A>G	c.(772-774)aaA>aaG	p.K258K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	258	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGACAAGAAAGATGCTGTTT	0.383000													6	81					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419434	27419434	+	Missense_Mutation	SNP	G	G	C	rs149207610		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:27419434G>C	ENST00000211936.6	-	6	2188	c.1904C>G	c.(1903-1905)aCt>aGt	p.T635S	ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATG	0.423000													10	236					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463248	16463248	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:16463248C>T	ENST00000308683.2	-	3	1144	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	340						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AATTCCAAAGCAGCATCGCCA	0.408000													6	394					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255635	15255635	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:15255635G>A	ENST00000378116.4	-	8	1958	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGTGCCCGCATCCTGCAG	0.622000													4	168					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109368336	109368336	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:109368336C>T	ENST00000283195.6	+	12	1767	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	547					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GACCTGGAAACGTAGCAAAAT	0.358000													165	305					0	0	1	0	0
CCRN4L	25819	broad.mit.edu	37	4	139966532	139966532	+	Silent	SNP	T	T	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:139966532T>A	ENST00000280614.2	+	3	1393	c.1200T>A	c.(1198-1200)atT>atA	p.I400I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	400					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AAGAACAGATTGGACCCAACA	0.453000													4	216					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607000													3	42					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								60	108					0	0	1	0	0
EVA1B	55194	broad.mit.edu	37	1	36788037	36788037	+	Silent	SNP	C	C	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:36788037C>A	ENST00000270824.1	-	3	648	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		GCGCCCGCTCCAGCTCCTCCG	0.741000													3	59					1	1	1	1	0
CUL5	8065	broad.mit.edu	37	11	107944162	107944162	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:107944162T>C	ENST00000393094.2	+	10	1667	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	351					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTTAATAGATTTAGTAAACT	0.269000													16	153					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180810420	180810420	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810420T>C	ENST00000410053.3	-	20	2462	c.2163A>G	c.(2161-2163)ggA>ggG	p.G721G	CWC22_ENST00000295749.6_Silent_p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	721						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTCCCATGTCCCTTCTTTC	0.333000													3	59					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42064859	42064859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr21:42064859G>A	ENST00000400454.1	-	3	862	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	129	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCACACGGACTGTATAG	0.498000													14	130					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67101613	67101613	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:67101613G>C	ENST00000284425.2	-	20	2904	c.2730C>G	c.(2728-2730)atC>atG	p.I910M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	910					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGTGTTATTGATGATCAACA	0.363000													5	92					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168311815	168311815	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:168311815C>T	ENST00000366806.2	+	14	1946	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S|MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	602					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGATACTACCTGCAAGCAT	0.368000			T	MLL	AL								36	131					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627360	148627360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:148627360G>A	ENST00000441248.1	+	3	1771	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	62							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGAGACTCGGGATGACTCC	0.567000													49	19					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701717	50701717	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:50701717C>T	ENST00000361387.2	-	9	1377	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.E220E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAAGGCTTCTCCCCCGAGT	0.532000													9	76					0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:72469122G>A	ENST00000296776.5	+	1	101	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582000													6	383					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449427	219449427	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:219449427C>G	ENST00000273064.6	+	4	788	c.413C>G	c.(412-414)aCc>aGc	p.T138S	RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	138					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCGGCTCACCAGCCTTGGA	0.438000													5	314					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43659378	43659378	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:43659378A>T	ENST00000264663.5	+	17	2781	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y	NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	854					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTTCCTGCTCAACAACAATCT	0.512000													49	92					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113241120	113241120	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:113241120C>G	ENST00000297405.5	-	70	11073	c.10829G>C	c.(10828-10830)gGa>gCa	p.G3610A	CSMD3_ENST00000343508.3_Splice_Site_p.G3570A|CSMD3_ENST00000352409.3_Splice_Site_p.G3540A|CSMD3_ENST00000455883.2_Splice_Site_p.G3441A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCAGTCCTACaaaata	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	97					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792211	149792211	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:149792211G>A	ENST00000353334.6	-	1	281	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	34					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCGCCGGCCCAGCATGG	0.617000			T	ROS1	NSCLC								7	280					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348220	348220	+	Silent	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348220C>G	ENST00000604971.1	+	3	1185	c.72C>G	c.(70-72)ccC>ccG	p.P24P	DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	127					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTGCCAACCCCAACGTGGGCT	0.577000													7	235					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77649841	77649841	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:77649841C>G	ENST00000534064.1	-	10	1055	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	341					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTAAAGTTCCTTGGCACGC	0.483000													11	321					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025055	84025055	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:84025055G>A	ENST00000369705.3	-	6	794	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ME1_ENST00000541327.1_Silent_p.D60D|ME1_ENST00000543031.1_Silent_p.D151D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCATGAATTCGTCCAAAAAAT	0.303000													14	178					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533255	169533255	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:169533255C>T	ENST00000449804.2	+	1	339	c.294C>T	c.(292-294)agC>agT	p.S98S	FOXI1_ENST00000306268.6_Silent_p.S98S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	98					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGCCCAGCGTGTCGGGGC	0.697000									Pendred syndrome				5	9					0	0	1	0	0
SUB1	10923	broad.mit.edu	37	5	32601155	32601155	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:32601155A>G	ENST00000265073.4	+	5	477	c.349A>G	c.(349-351)Att>Gtt	p.I117V	SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000504789.1_3'UTR	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAAGGAACAGATTTCTGACAT	0.313000													10	168					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	19					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77464812	77464812	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:77464812A>G	ENST00000299543.7	+	5	814	c.667A>G	c.(667-669)Acg>Gcg	p.T223A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	223	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATGCTGCACACGCGCCTGCG	0.602000													12	160					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9874046	9874046	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:9874046G>A	ENST00000397902.2	-	3	467	c.54C>T	c.(52-54)acC>acT	p.T18T	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTCCTCCTGGGTAAAGTCCA	0.423000													58	206					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61564269	61564269	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:61564269A>C	ENST00000263102.6	-	7	1245	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	338						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGACATCTCATTAAAATACC	0.448000			T	RET	NSCLC								34	59					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226059	158226059	+	Silent	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:158226059T>C	ENST00000289429.5	+	3	1124	c.591T>C	c.(589-591)caT>caC	p.H197H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	197	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAAGGCACATCTCCAGCGGC	0.453000													6	168					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57937725	57937725	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:57937725G>T	ENST00000325752.3	-	9	1597	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.F440F(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTAATGACGTGAAACTGTCTA	0.318000													13	155					1.37285e-15	1.45691e-15	1	1	0
DDA1	79016	broad.mit.edu	37	19	17424890	17424890	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:17424890C>T	ENST00000359866.4	+	2	186	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	21										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGATTTCACGCGGACTCCGTG	0.527000													10	269					0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53248533	53248533	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:53248533A>G	ENST00000216410.3	-	4	501	c.314T>C	c.(313-315)aTa>aCa	p.I105T	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	105	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TTTATGTTCTATAATCAGAGT	0.363000													18	249					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158870156	158870156	+	Silent	SNP	G	G	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:158870156G>T	ENST00000367097.3	+	4	2029	c.672G>T	c.(670-672)gtG>gtT	p.V224V	TULP4_ENST00000367094.2_Silent_p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	224					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTTCCTGGTGGAGGACAGCA	0.567000													23	117					7.87624e-14	8.27403e-14	1	1	0
AK9	221264	broad.mit.edu	37	6	109854627	109854627	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:109854627C>T	ENST00000424296.2	-	28	3473	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T	AK9_ENST00000341338.6_Missense_Mutation_p.A212T|AK9_ENST00000355283.1_Missense_Mutation_p.A212T	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AAAAACTGGGCCTCTTCTGGA	0.363000													7	145					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748587	94748587	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748587C>T	ENST00000399300.2	-	3	265	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	18							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGACGAATATCCACAGGCCCC	0.448000													7	245					0	0	1	0	0
RDH5	5959	broad.mit.edu	37	12	56118162	56118162	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:56118162G>A	ENST00000257895.5	+	5	942	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	264					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CCTAACCAAGGTGAGCCGATG	0.587000											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	124					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5798788	5798788	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:5798788G>A	ENST00000382674.2	+	14	2110	c.1926G>A	c.(1924-1926)ttG>ttA	p.L642L	EVC_ENST00000264956.6_Silent_p.L642L|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTGCTGTTGCGCTCAGCCC	0.647000													8	68					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437000	16437000	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:16437000C>T	ENST00000380672.4	-	6	1249	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGCTGGCTCGGTTTTGGGC	0.468000													40	62					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126753365	126753365	+	Missense_Mutation	SNP	C	C	A	rs141706024		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:126753365C>A	ENST00000274473.6	+	11	1433	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	389	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCTGCAAGCCGGGCTGGTCA	0.517000													13	312					1.02788e-11	1.069e-11	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78649254	78649254	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:78649254C>T	ENST00000286627.5	-	26	4194	c.3242G>A	c.(3241-3243)cGg>cAg	p.R1081Q	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|RP11-443A13.5_ENST00000609102.1_RNA	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1139					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATCTCTCAGCCGGTAAATTCC	0.438000													8	168					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971545	21971545	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:21971545C>T	ENST00000298717.4	-	3	645	c.494G>A	c.(493-495)gGc>gAc	p.G165D	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	165					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCCCCAGGGCCCTTCTTTTC	0.542000													39	107					0	0	1	0	0
GTF2H3	2967	broad.mit.edu	37	12	124132661	124132661	+	Silent	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:124132661C>T	ENST00000543341.2	+	4	383	c.352C>T	c.(352-354)Cta>Tta	p.L118L	GTF2H3_ENST00000228955.7_Silent_p.L77L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	118					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GATTAAAGATCTAATGACCAA	0.343000								Nucleotide excision repair (NER)					40	73					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95033878	95033878	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:95033878G>A	ENST00000375643.3	-	11	1316	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	350					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATCCACAGGGCAAACAGGGA	0.448000													4	187					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79940828	79940828	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:79940828T>C	ENST00000438737.2	-	7	1515	c.1075A>G	c.(1075-1077)Aat>Gat	p.N359D	RBM26_ENST00000438724.1_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.N359D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	359	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCCTGAGATTCACAGGTGGG	0.542000													4	141					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498000													4	80					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130912582	130912582	+	Silent	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:130912582G>A	ENST00000540948.1	+	2	277	c.204G>A	c.(202-204)ccG>ccA	p.P68P	LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P			P80188	NGAL_HUMAN	lipocalin 2	68					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						ACAAAGACCCGCAAAAGATGT	0.512000													4	181					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53218683	53218683	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:53218683G>A	ENST00000376352.2	+	17	1709	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	501	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACCTTATGGGTGGGAGGAA	0.363000													9	154					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282268	74282268	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:74282268T>C	ENST00000253577.3	-	14	1859		c.e14-2		ABCB7_ENST00000339447.4_Splice_Site|ABCB7_ENST00000373394.3_Splice_Site	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7						cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTCTCCTCCTGGTAAAGGAA	0.363000													4	59					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180810352	180810352	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810352T>G	ENST00000410053.3	-	20	2530	c.2231A>C	c.(2230-2232)cAa>cCa	p.Q744P	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	744						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTTCTTTTTGTTTCCTATC	0.393000													7	117					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35733066	35733066	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:35733066T>C	ENST00000300618.4	+	1	82	c.32T>C	c.(31-33)aTt>aCt	p.I11T	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	11						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCCTAATCATTGCATCCTAT	0.463000													31	82					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101909	149101909	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:149101909C>T	ENST00000370406.3	-	4	1012	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562000													45	218					0	0	1	0	0
OOSP2	219990	broad.mit.edu	37	11	59807955	59807955	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:59807955T>C	ENST00000278855.2	+	1	208	c.23T>C	c.(22-24)cTc>cCc	p.L8P		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		8						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GTCTTGATGCTCCTCGCTGTC	0.458000													98	206					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:12475550C>T	ENST00000397026.2	+	9	1741	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAGATTGTCACGGAACACGTG	0.527000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						30	164					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241753558	241753558	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:241753558delA	ENST00000366559.4	+	14	1564	c.1253delA	c.(1252-1254)caafs	p.Q418fs	KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	418					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGGCATTGGCAAAAAAAGGTT	0.313													7	213	---	---	---	---					
MARS2	92935	broad.mit.edu	37	2	198571649	198571650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198571649_198571650insA	ENST00000282276.6	+	1	1563_1564	c.1520_1521insA	c.(1519-1524)ggtactfs	p.T508fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	508					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTGGCTGGGTACTGTGCTTC	0.569													15	277	---	---	---	---					
RASSF1	11186	broad.mit.edu	37	3	50378177	50378177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:50378177delC	ENST00000359365.4	-	1	166	c.60delG	c.(58-60)gggfs	p.G20fs	RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_5'UTR	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	20	Mediates interaction with E4F1.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCGGCCCTTCCCAGCGCGCC	0.741													2	4	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624													7	338	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523104	32523104	+	RNA	DEL	T	T	-	rs139174913		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:32523104delT	ENST00000411500.1	-	0	458					NR_001298.1																						cctggaagagttttttgattc	0.343													2	4	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													8	384	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													5	1	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21186296	21186297	+	RNA	INS	-	-	A	rs113583877		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:21186296_21186297insA	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							aatttttatttaaaaaaaaaaa	0.426													3	2	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937867	76937876	+	Frame_Shift_Del	DEL	AGCCATCCTG	AGCCATCCTG	-			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:76937867_76937876delAGCCATCCTG	ENST00000373344.5	-	9	3086_3095	c.2872_2881delCAGGATGGCT	c.(2872-2883)caggatggcttafs	p.QDGL958fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	958					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATATCAGATAAGCCATCCTGTACTTTTTTA	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	492	---	---	---	---					
