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
SHFM1	7979	broad.mit.edu	37	7	96303092	96303092	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:96303092T>A	ENST00000413065.1	-	3	337	c.250A>T	c.(250-252)Agt>Tgt	p.S84C	SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000444799.1_Intron			P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	0					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AGGAAAGCACTGCACATTCTT	0.453000								Homologous recombination					12	31					0	0	0.093190	0	0
BRWD3	254065	broad.mit.edu	37	X	79947378	79947378	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79947378G>A	ENST00000373275.4	-	30	3641	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1142										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGTCTCTGGAATGAGCCCC	0.478000													11	26					0	0	0.093190	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218554	208218554	+	Splice_Site	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3495_splice	c.e19-1	p.G1166_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498000													3	77					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179483562	179483562	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179483562G>T	ENST00000589042.1	-	251	46939	c.46715C>A	c.(46714-46716)aCa>aAa	p.T15572K	TTN_ENST00000460472.2_Missense_Mutation_p.T6507K|TTN_ENST00000342992.6_Missense_Mutation_p.T13004K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T6699K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T13931K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T6632K|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13931	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTCAGCTGTCTTGATTTT	0.403000													26	11					1.26454e-06	1.40342e-06	0.108266	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	161					0	0	0.014758	0	0
ANKRD27	84079	broad.mit.edu	37	19	33110271	33110271	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:33110271G>A	ENST00000306065.4	-	20	2060	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	634					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCGCTGCGGGGACTGCACAG	0.602000													20	52					0	0	0.043863	0	0
TRPM6	140803	broad.mit.edu	37	9	77411725	77411725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:77411725G>A	ENST00000451710.3	-	18	2560	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q775*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q770*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q775*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	775					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGGAAGTCCTGGGACTGGGGA	0.368000													22	122					0	0	0.099896	0	0
GPR12	2835	broad.mit.edu	37	13	27333487	27333487	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:27333487T>A	ENST00000405846.3	-	2	699	c.478A>T	c.(478-480)Atg>Ttg	p.M160L	GPR12_ENST00000381436.2_Missense_Mutation_p.M160L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	160						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ATGACGAGCATGACATAGGTA	0.592000													14	17					0	0	0.119110	0	0
PTPRM	5797	broad.mit.edu	37	18	8380391	8380391	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:8380391C>T	ENST00000332175.8	+	27	4882	c.3845C>T	c.(3844-3846)tCc>tTc	p.S1282F	PTPRM_ENST00000580170.1_Missense_Mutation_p.S1295F|PTPRM_ENST00000444013.1_Missense_Mutation_p.S1069F|PTPRM_ENST00000400053.4_Missense_Mutation_p.S1220F|PTPRM_ENST00000400060.4_Missense_Mutation_p.S1296F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1282	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACTGCACATCCGTAGTTATG	0.458000													14	39					0	0	0.146539	0	0
MED1	5469	broad.mit.edu	37	17	37564503	37564503	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:37564503G>T	ENST00000300651.6	-	17	4194	c.3971C>A	c.(3970-3972)cCa>cAa	p.P1324Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1324	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCGTCCAGTGGGTCTTCACC	0.512000										HNSCC(31;0.082)			34	84					4.62619e-21	6.45984e-21	0.069456	1	0
CATSPERD	257062	broad.mit.edu	37	19	5778610	5778610	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:5778610G>T	ENST00000381624.3	+	22	2381	c.2320G>T	c.(2320-2322)Gcc>Tcc	p.A774S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	774						integral to membrane											CCAGTTCAGGGCCTCAGCCAC	0.652000													86	68					7.69131e-47	1.13595e-46	0.139131	1	0
DDX1	1653	broad.mit.edu	37	2	15758345	15758345	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:15758345G>A	ENST00000381341.2	+	17	1546	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	DDX1_ENST00000233084.3_Missense_Mutation_p.R386K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	386	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTTATAAATAGGATGCACAAT	0.299000													38	116					0	0	0.098360	0	0
METTL13	51603	broad.mit.edu	37	1	171756906	171756906	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:171756906G>T	ENST00000361735.3	+	4	1411	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	METTL13_ENST00000362019.3_Missense_Mutation_p.G296V|METTL13_ENST00000458517.1_Missense_Mutation_p.G381V|METTL13_ENST00000367737.5_Missense_Mutation_p.G226V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	382							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGGACATTGGGGTCCGGACC	0.502000													12	27					1.05317e-09	1.25987e-09	0.119110	1	0
ARMCX2	9823	broad.mit.edu	37	X	100911056	100911056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100911056C>G	ENST00000328766.5	-	5	1972	c.1519G>C	c.(1519-1521)Gtc>Ctc	p.V507L	ARMCX2_ENST00000330154.2_Missense_Mutation_p.V507L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V507L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	507						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATGGAATTGACAAGCAGGTGC	0.378000													13	186					0	0	0.119110	0	0
KSR1	8844	broad.mit.edu	37	17	25932786	25932786	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:25932786G>T	ENST00000398988.3	+	16	2041	c.1596G>T	c.(1594-1596)gtG>gtT	p.V532V	KSR1_ENST00000268763.6_Silent_p.V532V|KSR1_ENST00000509603.2_Silent_p.V647V|KSR1_ENST00000319524.6_Silent_p.V669V	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	667					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATGAGAACGTGGTGCTCTTCA	0.597000													4	7					0.00024832	0.000261246	0.150653	1	0
CRB1	23418	broad.mit.edu	37	1	197390936	197390936	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:197390936T>A	ENST00000367397.1	+	2	979	c.121T>A	c.(121-123)Tct>Act	p.S41T	CRB1_ENST00000367400.3_Missense_Mutation_p.S660T|CRB1_ENST00000535699.1_Missense_Mutation_p.S591T|CRB1_ENST00000538660.1_Missense_Mutation_p.S660T|CRB1_ENST00000367399.2_Missense_Mutation_p.S548T|CRB1_ENST00000544212.1_Missense_Mutation_p.S141T|CRB1_ENST00000543483.1_Silent_p.R289R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	660	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAACATCTCGTCTGGCTCATC	0.443000													35	68					0	0	0.064281	0	0
CCDC178	374864	broad.mit.edu	37	18	30554564	30554564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:30554564C>A	ENST00000383096.3	-	22	2652	c.2470G>T	c.(2470-2472)Gcc>Tcc	p.A824S	CCDC178_ENST00000406524.2_Missense_Mutation_p.A848S|CCDC178_ENST00000403303.1_Missense_Mutation_p.A824S|CCDC178_ENST00000300227.8_Missense_Mutation_p.A786S|CCDC178_ENST00000581852.1_Missense_Mutation_p.A29S|CCDC178_ENST00000583930.1_Missense_Mutation_p.A848S|CCDC178_ENST00000579947.1_Missense_Mutation_p.A824S|CCDC178_ENST00000402325.1_Missense_Mutation_p.A774S|CCDC178_ENST00000579916.1_Missense_Mutation_p.A144S					coiled-coil domain containing 178																		TGGAAGTTGGCCAGCCTCATC	0.493000													14	41					0.00316338	0.00323069	0.132662	1	0
FN1	2335	broad.mit.edu	37	2	216235068	216235068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:216235068C>T	ENST00000354785.4	-	41	7171	c.6802G>A	c.(6802-6804)Gac>Aac	p.D2268N	FN1_ENST00000421182.1_Missense_Mutation_p.D2031N|FN1_ENST00000432072.2_Missense_Mutation_p.D2058N|FN1_ENST00000359671.1_Missense_Mutation_p.D2177N|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.D2146N|FN1_ENST00000323926.6_Missense_Mutation_p.D2237N|FN1_ENST00000357867.4_Missense_Mutation_p.D1967N|FN1_ENST00000446046.1_Missense_Mutation_p.D2121N|FN1_ENST00000443816.1_Missense_Mutation_p.D2056N|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.D2087N|FN1_ENST00000346544.3_Missense_Mutation_p.D2057N			P02751	FINC_HUMAN	fibronectin 1	2177	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGCTGGTCTTTCAGTGCC	0.522000													5	29					0	0	0.021553	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340371	90340371	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:90340371G>T	ENST00000369408.5	+	15	2076	c.1727G>T	c.(1726-1728)gGg>gTg	p.G576V	ANKRD6_ENST00000447838.2_Missense_Mutation_p.G606V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.G611V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.G547V|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.G611V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	611							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAGGCTGGGCCCTGCGTC	0.582000													6	10					0.00116845	0.00119649	0.021553	1	0
TBX22	50945	broad.mit.edu	37	X	79286015	79286015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79286015C>T	ENST00000442340.1	+	9	1098	c.608C>T	c.(607-609)tCt>tTt	p.S203F	TBX22_ENST00000373291.1_Missense_Mutation_p.S203F|TBX22_ENST00000373296.3_Missense_Mutation_p.S323F|TBX22_ENST00000373294.5_Missense_Mutation_p.S323F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	323					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTGGCTCATCTCCAGTGACC	0.428000													33	64					0	0	0.074837	0	0
ITGB5	3693	broad.mit.edu	37	3	124538590	124538590	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:124538590T>C	ENST00000296181.4	-	7	1330	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCATACCTTGTACAGCATATA	0.483000													21	95					0	0	0.076483	0	0
LCE1A	353131	broad.mit.edu	37	1	152800095	152800095	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:152800095A>G	ENST00000335123.2	+	1	147	c.147A>G	c.(145-147)ggA>ggG	p.G49G		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	49	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGCTCCGGAGGCTGCTGTG	0.672000													20	39					0	0	0.091800	0	0
POLM	27434	broad.mit.edu	37	7	44119312	44119312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44119312G>A	ENST00000242248.5	-	4	601	c.500C>T	c.(499-501)gCa>gTa	p.A167V	POLM_ENST00000395831.3_Missense_Mutation_p.A167V|POLM_ENST00000335195.6_Missense_Mutation_p.A167V	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	167					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TTCAAAGCCTGCTGCCTCGGC	0.652000								DNA polymerases (catalytic subunits)					19	41					0	0	0.043863	0	0
MID2	11043	broad.mit.edu	37	X	107169922	107169922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107169922C>A	ENST00000262843.6	+	10	2375	c.1827C>A	c.(1825-1827)taC>taA	p.Y609*	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Nonsense_Mutation_p.Y579*	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	609	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding	p.Y589*(1)|p.Y609*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATTGCCTACAAATCAGCTC	0.393000													21	72					6.21321e-17	8.28428e-17	0.076483	1	0
ZNF235	9310	broad.mit.edu	37	19	44791701	44791701	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:44791701A>G	ENST00000291182.4	-	5	1989	c.1887T>C	c.(1885-1887)tgT>tgC	p.C629C	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACAAGTGTCACATTTATATG	0.443000													55	58					0	0	0.139131	0	0
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612000													15	61					0	0	0.146539	0	0
RNF213	57674	broad.mit.edu	37	17	78363670	78363670	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:78363670C>G	ENST00000582970.1	+	66	15381	c.15238C>G	c.(15238-15240)Cag>Gag	p.Q5080E	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.Q5129E|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q3153E	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCCTCTGGCAGTTCCTGTC	0.537000													27	46					0	0	0.125774	0	0
BAI3	577	broad.mit.edu	37	6	69685160	69685160	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:69685160T>A	ENST00000370598.1	+	10	2483	c.1662T>A	c.(1660-1662)caT>caA	p.H554Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	554					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGTCTTCATGGAGTGGCCT	0.468000													11	41					0	0	0.105934	0	0
RFX6	222546	broad.mit.edu	37	6	117248568	117248568	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:117248568C>T	ENST00000332958.2	+	17	2280	c.2264C>T	c.(2263-2265)tCt>tTt	p.S755F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	755					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGGCCACCGTCTAGCTATGGC	0.517000													14	36					0	0	0.119110	0	0
CACNA2D1	781	broad.mit.edu	37	7	81693654	81693654	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:81693654C>A	ENST00000356860.3	-	9	1083	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A249S|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A249S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	249						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAGGAGATGCAGCTCCTTGG	0.313000													9	28					1.76689e-08	2.0375e-08	0.058154	1	0
DACH2	117154	broad.mit.edu	37	X	86067962	86067962	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:86067962T>G	ENST00000373131.1	+	7	1468	c.1305T>G	c.(1303-1305)ttT>ttG	p.F435L	DACH2_ENST00000508860.1_Missense_Mutation_p.F281L|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.F448L|DACH2_ENST00000510272.1_Missense_Mutation_p.F229L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CATTCATTTTTGCTGATAGTC	0.423000													8	15					0	0	0.058154	0	0
FHL1	2273	broad.mit.edu	37	X	135291444	135291444	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135291444C>A	ENST00000394155.2	+	7	1060	c.731C>A	c.(730-732)gCt>gAt	p.A244D	FHL1_ENST00000370690.3_Intron|FHL1_ENST00000345434.3_Missense_Mutation_p.A244D|FHL1_ENST00000535737.1_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000543669.1_Intron	NM_001159702.2	NP_001153174.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	244					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTCTCTAAAGCTAGGAAGCCC	0.572000											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	41					0.000442599	0.000460591	0.058154	1	0
PASD1	139135	broad.mit.edu	37	X	150789407	150789407	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:150789407G>C	ENST00000370357.4	+	5	458	c.213G>C	c.(211-213)gaG>gaC	p.E71D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	71	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGCTGAGATTGTGGGCA	0.408000													27	84					0	0	0.125774	0	0
TUBE1	51175	broad.mit.edu	37	6	112397183	112397183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:112397183C>G	ENST00000368662.5	-	8	847	c.769G>C	c.(769-771)Gca>Cca	p.A257P	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	257					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTATTCATTGCATCAAAGGGC	0.383000													59	89					0	0	0.139131	0	0
HCCS	3052	broad.mit.edu	37	X	11139818	11139818	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:11139818G>T	ENST00000321143.4	+	7	897	c.695G>T	c.(694-696)gGt>gTt	p.G232V	HCCS_ENST00000380762.4_Missense_Mutation_p.G232V|HCCS_ENST00000380763.3_Missense_Mutation_p.G232V|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	232					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TATGATGGTGGTGAAGTCAAC	0.448000													30	90					1.1423e-28	1.64904e-28	0.144211	1	0
CYP2C9	1559	broad.mit.edu	37	10	96702062	96702062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:96702062G>A	ENST00000260682.6	+	3	457	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	149					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCAAGAGGAAGCCCGCTGCCT	0.502000													34	41					0	0	0.086207	0	0
SNTG1	54212	broad.mit.edu	37	8	51571220	51571220	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:51571220C>A	ENST00000522124.1	+	15	1696	c.1035C>A	c.(1033-1035)ctC>ctA	p.L345L	SNTG1_ENST00000276467.5_Silent_p.L345L|SNTG1_ENST00000518864.1_Silent_p.L345L|SNTG1_ENST00000517473.1_Silent_p.L345L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	345	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L345L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAAGATCCTCAAGGTATGAT	0.373000													7	40					1.06961e-07	1.22241e-07	0.038147	1	0
MLLT4	4301	broad.mit.edu	37	6	168347424	168347424	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:168347424G>C	ENST00000366806.2	+	27	3517	c.3375G>C	c.(3373-3375)aaG>aaC	p.K1125N	MLLT4_ENST00000351017.4_Missense_Mutation_p.K1132N|MLLT4_ENST00000447894.2_Missense_Mutation_p.K1125N|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1125N|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1124N|MLLT4_ENST00000392108.3_Missense_Mutation_p.K1125N|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1108N|MLLT4_ENST00000507679.1_3'UTR			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1125					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.S1126_E1130delSEGFE(1)|p.S1110_E1114delSEGFE(1)		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)		CCCGACCAAAGAGTGAAGGCT	0.403000			T	MLL	AL								26	52					0	0	0.083992	0	0
CTNND2	1501	broad.mit.edu	37	5	11346593	11346593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:11346593G>A	ENST00000304623.8	-	9	1708	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q74*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q416*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q170*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q507*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	507					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGACAATACTGCAGCTGTCGG	0.627000													23	86					0	0	0.099896	0	0
RC3H1	149041	broad.mit.edu	37	1	173907909	173907909	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:173907909C>A	ENST00000367696.2	-	20	3703	c.3352G>T	c.(3352-3354)Gat>Tat	p.D1118Y	RC3H1_ENST00000258349.4_Missense_Mutation_p.D1118Y|RC3H1_ENST00000367694.2_Missense_Mutation_p.D1110Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1118					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCATTATTATCCCCTCCTCCC	0.463000													16	68					1.5739e-10	1.92477e-10	0.146539	1	0
ADRA1A	148	broad.mit.edu	37	8	26721956	26721956	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26721956C>T	ENST00000380573.3	-	2	1554	c.531G>A	c.(529-531)caG>caA	p.Q177Q	ADRA1A_ENST00000380581.2_Silent_p.Q177Q|ADRA1A_ENST00000519229.1_Silent_p.Q177Q|ADRA1A_ENST00000380572.3_Silent_p.Q177Q|ADRA1A_ENST00000380582.3_Silent_p.Q177Q|ADRA1A_ENST00000380587.1_Silent_p.Q177Q|ADRA1A_ENST00000380586.1_Silent_p.Q177Q|ADRA1A_ENST00000358857.5_Silent_p.Q177Q|ADRA1A_ENST00000276393.4_Silent_p.Q177Q|ADRA1A_ENST00000354550.4_Silent_p.Q177Q			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	177					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCTCGTTGATCTGGCAGATGG	0.627000													8	27					0	0	0.047766	0	0
CSMD3	114788	broad.mit.edu	37	8	113318352	113318352	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:113318352G>T	ENST00000297405.5	-	51	8199	c.7955C>A	c.(7954-7956)aCg>aAg	p.T2652K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T2582K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2548K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2612K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2652	Sushi 15.					integral to membrane|plasma membrane		p.T2652R(1)		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						GGTAACTCGCGTTCCTACCAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	70					4.35082e-09	5.12489e-09	0.055883	1	0
SLC17A8	246213	broad.mit.edu	37	12	100797842	100797842	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:100797842C>A	ENST00000323346.5	+	9	1393	c.1080C>A	c.(1078-1080)caC>caA	p.H360Q	SLC17A8_ENST00000392989.3_Missense_Mutation_p.H310Q	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	360					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGTCCCACACATGGTTATGA	0.433000													17	45					2.39187e-15	3.12408e-15	0.049695	1	0
PDZD8	118987	broad.mit.edu	37	10	119044794	119044794	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:119044794C>A	ENST00000334464.5	-	5	1689	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	484					intracellular signal transduction		metal ion binding	p.G484W(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTGTCAACCCGGCAGCTTCC	0.438000													4	137					0.150653	0.152239	0.150653	1	0
MEFV	4210	broad.mit.edu	37	16	3293434	3293434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:3293434C>A	ENST00000219596.1	-	10	2092	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.E474*|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Nonsense_Mutation_p.E505*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	685	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TAGCCATTCTCTGGCGACAGA	0.552000													50	113					1.4374e-25	2.06727e-25	0.139131	1	0
ZNF536	9745	broad.mit.edu	37	19	30934689	30934689	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:30934689G>T	ENST00000355537.3	+	2	367	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGAGCGGCCAGCCCAT	0.682000													30	47					9.65021e-13	1.22705e-12	0.153744	1	0
UNC5D	137970	broad.mit.edu	37	8	35579781	35579781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:35579781G>T	ENST00000287272.2	+	8	1023	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	UNC5D_ENST00000404895.2_Missense_Mutation_p.V391L|UNC5D_ENST00000453357.2_Missense_Mutation_p.V386L|UNC5D_ENST00000420357.1_Missense_Mutation_p.V324L|UNC5D_ENST00000416672.1_Missense_Mutation_p.V396L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	391	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTGCCGTCGTGGCCGTTGC	0.522000													57	136					3.89483e-19	5.32247e-19	0.139131	1	0
BBS9	27241	broad.mit.edu	37	7	33217197	33217197	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:33217197G>T	ENST00000242067.6	+	5	957	c.436G>T	c.(436-438)Gta>Tta	p.V146L	BBS9_ENST00000396127.2_Missense_Mutation_p.V146L|BBS9_ENST00000355070.2_Missense_Mutation_p.V146L|BBS9_ENST00000350941.3_Missense_Mutation_p.V146L|BBS9_ENST00000425508.2_Missense_Mutation_p.V101L|BBS9_ENST00000354265.4_Missense_Mutation_p.V146L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	146					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTGGTGGTGTAAAAGGTAA	0.353000									Bardet-Biedl syndrome				28	53					6.07407e-21	8.45089e-21	0.125774	1	0
LAMB1	3912	broad.mit.edu	37	7	107638890	107638890	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:107638890C>T	ENST00000393561.1	-	2	517	c.333G>A	c.(331-333)gaG>gaA	p.E111E	LAMB1_ENST00000222399.6_Silent_p.E87E|LAMB1_ENST00000393560.1_Silent_p.E87E			P07942	LAMB1_HUMAN	laminin, beta 1	87	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCAGGGTCTCATGATAAG	0.388000													33	77					0	0	0.183431	0	0
GP6	51206	broad.mit.edu	37	19	55526217	55526217	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:55526217C>T	ENST00000310373.3	-	8	1123	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACGCTCCACACACGCCAGTCT	0.602000													15	30					0	0	0.132662	0	0
KCNT2	343450	broad.mit.edu	37	1	196303004	196303004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196303004G>C	ENST00000367433.5	-	17	2071	c.1970C>G	c.(1969-1971)cCa>cGa	p.P657R	KCNT2_ENST00000294725.8_Missense_Mutation_p.P657R|KCNT2_ENST00000367431.4_Missense_Mutation_p.P607R|KCNT2_ENST00000451324.2_Missense_Mutation_p.P268R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	657						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTTCATCTGGTGTAGTTTC	0.353000													5	24					0	0	0.014758	0	0
MYLK	4638	broad.mit.edu	37	3	123451900	123451900	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:123451900G>T	ENST00000360772.3	-	12	1737	c.1359C>A	c.(1357-1359)ccC>ccA	p.P453P	MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Silent_p.P453P|MYLK_ENST00000360304.3_Silent_p.P453P|MYLK_ENST00000359169.1_Silent_p.P453P			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCTCCTCACGGGGGTGCCTT	0.572000													25	28					3.73808e-20	5.14489e-20	0.108266	1	0
TFDP3	51270	broad.mit.edu	37	X	132351548	132351548	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:132351548A>T	ENST00000310125.4	-	1	828	c.740T>A	c.(739-741)cTg>cAg	p.L247Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	247	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TGAGTTGGGCAGCGGCCGCTG	0.478000													41	135					0	0	0.098360	0	0
AQR	9716	broad.mit.edu	37	15	35224630	35224630	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:35224630C>T	ENST00000156471.5	-	11	1014	c.789G>A	c.(787-789)ctG>ctA	p.L263L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	263						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTGGGTAGCAGGGCCTGGG	0.418000													18	31					0	0	0.055883	0	0
S1PR1	1901	broad.mit.edu	37	1	101705535	101705535	+	Missense_Mutation	SNP	C	C	A	rs7549921	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:101705535C>A	ENST00000305352.6	+	2	1370	c.995C>A	c.(994-996)cCg>cAg	p.P332Q		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	332			P -> R (in dbSNP:rs7549921).		cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.P332Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCAAGTGCCCGAGCGGAGAC	0.557000													68	92					1.43987e-31	2.09435e-31	0.139131	1	0
TLR4	7099	broad.mit.edu	37	9	120474751	120474751	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120474751G>T	ENST00000355622.6	+	3	446	c.345G>T	c.(343-345)caG>caT	p.Q115H	TLR4_ENST00000394487.4_Missense_Mutation_p.Q75H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	115					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCCCATCCAGAGTTTAGCCC	0.453000													40	33					1.96642e-18	2.64949e-18	0.092188	1	0
XKR3	150165	broad.mit.edu	37	22	17280839	17280839	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:17280839G>A	ENST00000331428.5	-	3	513	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	137						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTTTGTGATGCTAACTTGAG	0.398000													34	115					0	0	0.064281	0	0
CACNG6	59285	broad.mit.edu	37	19	54515283	54515283	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54515283C>A	ENST00000252729.2	+	4	1213	c.623C>A	c.(622-624)cCc>cAc	p.P208H	CACNG6_ENST00000352529.1_Missense_Mutation_p.P137H|CACNG6_ENST00000346968.2_Missense_Mutation_p.P162H	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	208						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCGGAGCCTCCCCCGGCCCCA	0.697000													37	46					1.62957e-23	2.30906e-23	0.104719	1	0
MAGI2	9863	broad.mit.edu	37	7	79082487	79082487	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:79082487G>T	ENST00000354212.4	-	1	403	c.150C>A	c.(148-150)ggC>ggA	p.G50G	MAGI2_ENST00000419488.1_Silent_p.G50G|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000522391.1_Silent_p.G50G|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	50	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCCACCTTGCCGGGCTTCA	0.642000													31	77					4.74835e-14	6.13929e-14	0.153744	1	0
TACR3	6870	broad.mit.edu	37	4	104579544	104579544	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104579544C>T	ENST00000304883.2	-	2	705	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	189						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCAAGGGATCAATAATAGCC	0.353000													6	23					0	0	0.038147	0	0
ZNF728	388523	broad.mit.edu	37	19	23159353	23159353	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:23159353G>T	ENST00000594710.1	-	4	931	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TGAAGGCTTTGCCACATTCTT	0.398000													4	28					0.00024832	0.000261246	0.150653	1	0
DACH2	117154	broad.mit.edu	37	X	85994870	85994870	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85994870C>A	ENST00000373131.1	+	6	1349	c.1186C>A	c.(1186-1188)Cat>Aat	p.H396N	DACH2_ENST00000508860.1_Missense_Mutation_p.H242N|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.H409N|DACH2_ENST00000510272.1_Missense_Mutation_p.H190N	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGGATCATCATTTGGAAAG	0.443000													5	12					3.59834e-05	3.84892e-05	0.021553	1	0
PLCE1	51196	broad.mit.edu	37	10	95791541	95791541	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:95791541T>C	ENST00000260766.3	+	2	1372	c.738T>C	c.(736-738)aaT>aaC	p.N246N	PLCE1_ENST00000371380.2_Silent_p.N246N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	246					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATTGTGATAATAAGAATGAGC	0.398000													21	25					0	0	0.055883	0	0
FNBP1	23048	broad.mit.edu	37	9	132658199	132658199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:132658199C>T	ENST00000420781.1	-	16	1955	c.1737G>A	c.(1735-1737)tgG>tgA	p.W579*	FNBP1_ENST00000355681.3_Nonsense_Mutation_p.W559*|FNBP1_ENST00000446176.2_Nonsense_Mutation_p.W588*|FNBP1_ENST00000443566.2_Nonsense_Mutation_p.W216*			Q96RU3	FNBP1_HUMAN	formin binding protein 1	588	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GAATGCGGGTCCAGCCATCGC	0.413000			T	MLL	AML								27	32					0	0	0.108266	0	0
EXOC3	11336	broad.mit.edu	37	5	466943	466943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:466943G>A	ENST00000512944.1	+	13	2357	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	CTD-2228K2.5_ENST00000510714.1_Intron|EXOC3_ENST00000315013.5_Missense_Mutation_p.S723N	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	734					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCACAGGCCAGCCCCAGCTAC	0.662000													4	17					0	0	0.150653	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170082	57170082	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57170082G>C	ENST00000371244.4	+	7	1293	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	409					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCCGAAGTCAGAGCAAACCGT	0.408000													41	34					0	0	0.104719	0	0
ELMO1	9844	broad.mit.edu	37	7	36934481	36934481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:36934481C>T	ENST00000310758.4	-	17	2226	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D527N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D527N|ELMO1_ENST00000396040.2_Missense_Mutation_p.D47N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D229N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D47N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	527					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GACTGGAAATCTTCCTGGTTC	0.478000													16	50					0	0	0.160694	0	0
ACER1	125981	broad.mit.edu	37	19	6306747	6306747	+	Missense_Mutation	SNP	C	C	T	rs144461069		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6306747C>T	ENST00000301452.4	-	6	850	c.773G>A	c.(772-774)cGg>cAg	p.R258Q		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	258						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTCATCACCCCGGATTTCCAC	0.577000													14	61					0	0	0.132662	0	0
UBN2	254048	broad.mit.edu	37	7	138946205	138946205	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946205C>T	ENST00000288561.8	+	6	1113	c.864C>T	c.(862-864)gaC>gaT	p.D288D	UBN2_ENST00000473989.2_Silent_p.D371D	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	371	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACGTCCCGGACTTAAATCTGA	0.483000													25	67					0	0	0.108266	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000													4	34					0	0	0.150653	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128896688	128896688	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:128896688A>T	ENST00000371106.3	+	19	1874	c.1682A>T	c.(1681-1683)gAt>gTt	p.D561V		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	561					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TACTATAAGGATGGAGAATTT	0.542000													19	44					0	0	0.062417	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701258	46701258	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:46701258G>A	ENST00000311956.4	-	11	1064	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	323	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAAGCTCCCGGAGGAAGGTC	0.612000													15	80					0	0	0.146539	0	0
PRCP	5547	broad.mit.edu	37	11	82561547	82561547	+	Splice_Site	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:82561547C>T	ENST00000313010.3	-	4	606	c.411_splice	c.e4-1	p.D138_splice	PRCP_ENST00000535099.1_Splice_Site_p.D33_splice|PRCP_ENST00000393399.2_Splice_Site_p.D159_splice	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	138					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGTCTGGAATCCTAAAGAAAT	0.393000													21	53					0	0	0.055883	0	0
ABCA13	154664	broad.mit.edu	37	7	48314857	48314857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:48314857C>G	ENST00000435803.1	+	17	5618	c.5594C>G	c.(5593-5595)tCt>tGt	p.S1865C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1865					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCACCTGTCTCCCCAAGGT	0.423000													28	24					0	0	0.116897	0	0
LYST	1130	broad.mit.edu	37	1	235850334	235850334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:235850334G>A	ENST00000389794.3	-	48	10889	c.10715C>T	c.(10714-10716)gCt>gTt	p.A3572V	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.A3572V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3572					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGCACCCAAGCACAACTAGT	0.363000													4	92					0	0	0.150653	0	0
FANCD2	2177	broad.mit.edu	37	3	10083359	10083359	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:10083359T>A	ENST00000287647.3	+	10	841	c.748T>A	c.(748-750)Tca>Aca	p.S250T	FANCD2_ENST00000383807.1_Missense_Mutation_p.S250T|FANCD2_ENST00000383806.1_Missense_Mutation_p.S250T|FANCD2_ENST00000419585.1_Missense_Mutation_p.S250T	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	250	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGATGTCCTTTCAAGCCTCCG	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				34	36					0	0	0.064281	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	27					0	0	0.153744	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329824	64329824	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:64329824C>T	ENST00000301891.4	+	4	1112	c.738C>T	c.(736-738)ggC>ggT	p.G246G	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.G246G|SLC22A11_ENST00000377581.3_Silent_p.G246G	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	246					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CGGCGCTGGGCGGCCTGGCCT	0.632000													17	99					0	0	0.175082	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:61594048C>T	ENST00000370349.3	+	6	756	c.552C>T	c.(550-552)tcC>tcT	p.S184S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.S190S			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637000													44	83					0	0	0.139131	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820091	50820091	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50820091G>A	ENST00000374115.3	+	1	1745	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	435					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGCGCTCGGGCCCATAGTGG	0.627000													10	18					0	0	0.132662	0	0
SPRED1	161742	broad.mit.edu	37	15	38643248	38643248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:38643248C>T	ENST00000299084.4	+	7	1578	c.718C>T	c.(718-720)Caa>Taa	p.Q240*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	240	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTCAGCTTTCAAGATGAGGA	0.388000									Legius syndrome				3	21					0	0	0.150653	0	0
CDH7	1005	broad.mit.edu	37	18	63511088	63511088	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:63511088T>C	ENST00000536984.2	+	7	1716	c.1022T>C	c.(1021-1023)aTa>aCa	p.I341T	CDH7_ENST00000323011.3_Missense_Mutation_p.I341T|CDH7_ENST00000397968.2_Missense_Mutation_p.I341T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	341	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACGCTACGGATAGAAGCTGCA	0.443000													24	49					0	0	0.083992	0	0
THOC2	57187	broad.mit.edu	37	X	122866840	122866840	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:122866840C>A	ENST00000245838.8	-	1	64	c.33G>T	c.(31-33)gaG>gaT	p.E11D	THOC2_ENST00000355725.4_Missense_Mutation_p.E11D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	11					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTATCCACTCTGCGGGAA	0.637000											OREG0003978|OREG0003979	type=REGULATORY REGION|Gene=BC041435|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=THOC2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	54					5.03518e-11	6.21708e-11	0.043863	1	0
OR6K3	391114	broad.mit.edu	37	1	158687951	158687951	+	Translation_Start_Site	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158687951C>G	ENST00000368146.1	-	1	2	c.3G>C	c.(1-3)atG>atC	p.M1I				Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TAGTCCAGCACATGAGAGGGT	0.373000													16	33					0	0	0.160694	0	0
PDHA2	5161	broad.mit.edu	37	4	96761669	96761669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:96761669A>G	ENST00000295266.4	+	1	431	c.368A>G	c.(367-369)tAt>tGt	p.Y123C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	123					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGTGTGTGCTATACTCGGGGA	0.522000													13	39					0	0	0.105934	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971137	21971137	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:21971137T>A	ENST00000304494.5	-	2	491	c.221A>T	c.(220-222)gAc>gTc	p.D74V	CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000530628.2_Silent_p.R88R|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23V|CDKN2A_ENST00000579755.1_Silent_p.R88R|CDKN2A_ENST00000361570.3_Silent_p.R129R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74V|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			D -> N (in a bladder tumor).|D -> V (in a biliary tract tumor).|D -> Y (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTT	0.711000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	5					0	0	0.038147	0	0
NOTCH2	4853	broad.mit.edu	37	1	120508124	120508124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:120508124C>T	ENST00000256646.2	-	10	1852	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	545	EGF-like 14; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACACTTTGCCCCATTCAGA	0.448000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	194					0	0	0.150653	0	0
SELP	6403	broad.mit.edu	37	1	169572441	169572441	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169572441A>G	ENST00000263686.6	-	10	1565	c.1528T>C	c.(1528-1530)Tgc>Cgc	p.C510R	SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C448R|SELP_ENST00000367794.2_Missense_Mutation_p.C448R|SELP_ENST00000367791.2_Missense_Mutation_p.C386R|SELP_ENST00000367788.2_Missense_Mutation_p.C448R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.C448R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	510	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AAAGGTGTGCAGGGAATGGCT	0.443000													17	62					0	0	0.049695	0	0
DKC1	1736	broad.mit.edu	37	X	153994589	153994589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:153994589G>T	ENST00000369550.5	+	5	572	c.362G>T	c.(361-363)aGt>aTt	p.S121I		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	121			S -> G (in HHS; dbSNP:rs121912305).		cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGGCACAGTGGTACGCTG	0.522000									Congenital Dyskeratosis				24	58					7.87624e-14	1.01493e-13	0.076483	1	0
KIAA1109	84162	broad.mit.edu	37	4	123107289	123107289	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:123107289G>T	ENST00000264501.4	+	7	830	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.G153C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G153C			Q2LD37	K1109_HUMAN	KIAA1109	153					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGTTGTTTGGTTTGGAGCC	0.378000													16	26					3.41278e-10	4.14718e-10	0.160694	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886082	88886082	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:88886082C>A	ENST00000319675.3	-	1	214	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	40										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAATAGTTGGCGAATCTGAGG	0.522000													29	45					2.14196e-07	2.42629e-07	0.125774	1	0
GPR112	139378	broad.mit.edu	37	X	135453552	135453552	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:135453552G>C	ENST00000394143.1	+	14	7753	c.7462G>C	c.(7462-7464)Gaa>Caa	p.E2488Q	GPR112_ENST00000370652.1_Missense_Mutation_p.E2488Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2286Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2283Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2283Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2488					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGTAAAGAAGAGACAAA	0.338000													12	32					0	0	0.093190	0	0
TAF3	83860	broad.mit.edu	37	10	8006137	8006137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:8006137C>T	ENST00000344293.5	+	3	870	c.664C>T	c.(664-666)Caa>Taa	p.Q222*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	222					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AATAAATACTCAAAAGATCCC	0.507000													27	46					0	0	0.134883	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278998	36278998	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:36278998G>T	ENST00000007510.4	+	21	3675	c.3531G>T	c.(3529-3531)agG>agT	p.R1177S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1013S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1016S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1177					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TAGGGCCCAGGGGTCCCTCAC	0.672000													42	47					6.2361e-21	8.645e-21	0.098360	1	0
IGKV3-15	28913	broad.mit.edu	37	2	89384800	89384800	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:89384800G>T	ENST00000390252.2	-	0	314																											AGTGGCCCTGGTGGATGCACC	0.562000													28	54					1.30897e-18	1.77613e-18	0.144211	1	0
ATP7B	540	broad.mit.edu	37	13	52549007	52549007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:52549007C>T	ENST00000242839.4	-	2	505	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	ATP7B_ENST00000400370.3_Missense_Mutation_p.G117R|ATP7B_ENST00000542656.1_Missense_Mutation_p.G85R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G117R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G117R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G117R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G117R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	117	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCCATGTCCCCAATTTGATGG	0.562000									Wilson disease				32	50					0	0	0.163468	0	0
LHX1	3975	broad.mit.edu	37	17	35297814	35297814	+	Splice_Site	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:35297814G>C	ENST00000254457.5	+	2	1808		c.e2+1		RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1						cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTTCACTCGGGTGAGGCCCCA	0.562000													5	22					0	0	0.029380	0	0
ASZ1	136991	broad.mit.edu	37	7	117024803	117024803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:117024803C>A	ENST00000284629.2	-	6	726	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	222					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTTCTTTTTGCAATCTCACTT	0.333000													28	70					2.08457e-15	2.73199e-15	0.153744	1	0
FSCB	84075	broad.mit.edu	37	14	44975557	44975557	+	Missense_Mutation	SNP	T	T	A	rs140155770		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:44975557T>A	ENST00000340446.4	-	1	925	c.634A>T	c.(634-636)Aat>Tat	p.N212Y		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	212						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403000													34	100					0	0	0.064281	0	0
UBN2	254048	broad.mit.edu	37	7	138946371	138946371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:138946371G>C	ENST00000288561.8	+	6	1279	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	UBN2_ENST00000473989.2_Missense_Mutation_p.E427Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	427	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GTCGGGGGGTGAAAATGGAAC	0.483000													12	70					0	0	0.119110	0	0
ADAM28	10863	broad.mit.edu	37	8	24168892	24168892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:24168892G>T	ENST00000265769.4	+	5	435	c.325G>T	c.(325-327)Gga>Tga	p.G109*	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.G109*|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	109					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTATTATCAAGGACATATTCT	0.388000													9	30					0.000274275	0.0002862	0.047766	1	0
DACH2	117154	broad.mit.edu	37	X	85404039	85404039	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:85404039C>G	ENST00000373131.1	+	1	578	c.415C>G	c.(415-417)Ccc>Gcc	p.P139A	DACH2_ENST00000373125.4_Missense_Mutation_p.P139A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	139	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGCCATCCAGCCCGGGGTAAA	0.557000													13	47					0	0	0.146539	0	0
THEG	51298	broad.mit.edu	37	19	371226	371226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:371226G>C	ENST00000342640.4	-	6	774	c.732C>G	c.(730-732)ttC>ttG	p.F244L	THEG_ENST00000346878.2_Missense_Mutation_p.F220L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	244					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGCTCCAGAAGTTATCAC	0.642000													52	189					0	0	0.139131	0	0
KLHL13	90293	broad.mit.edu	37	X	117079426	117079426	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117079426T>C	ENST00000371876.1	-	1	2479	c.58A>G	c.(58-60)Agc>Ggc	p.S20G	KLHL13_ENST00000371882.1_Missense_Mutation_p.S20G|KLHL13_ENST00000545703.1_Missense_Mutation_p.S29G|KLHL13_ENST00000469946.1_Missense_Mutation_p.S20G|KLHL13_ENST00000371878.1_Missense_Mutation_p.S20G|KLHL13_ENST00000540167.1_Missense_Mutation_p.S55G|KLHL13_ENST00000262820.3_Missense_Mutation_p.S71G|KLHL13_ENST00000541812.1_Missense_Mutation_p.S55G|KLHL13_ENST00000539496.1_Missense_Mutation_p.S74G			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	71				L -> P (in Ref. 3; BAG54189).	cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGGGTATTGCTGGTAAAGATG	0.458000													24	64					0	0	0.099896	0	0
CHD1	1105	broad.mit.edu	37	5	98193970	98193970	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:98193970T>A	ENST00000284049.3	-	34	4850	c.4701A>T	c.(4699-4701)aaA>aaT	p.K1567N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1567					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCACTTTTTTTGTAAGAAT	0.403000													60	76					0	0	0.139131	0	0
LILRP2	79166	broad.mit.edu	37	19	55220579	55220579	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:55220579G>T	ENST00000413439.1	+	0	717																											TCCCATCCATGAGAGAGCACC	0.567000													14	13					2.32078e-09	2.75908e-09	0.132662	1	0
UTP14A	10813	broad.mit.edu	37	X	129053151	129053151	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129053151G>T	ENST00000394422.3	+	7	566	c.537_splice	c.e7-1	p.A180_splice	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Splice_Site_p.A126_splice|UTP14A_ENST00000425117.2_Splice_Site_p.A128_splice|UTP14A_ENST00000371042.3_Splice_Site_p.A12_splice	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	180					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTTCTTTAAGGCAAGAACTCC	0.433000													29	79					3.69857e-22	5.18339e-22	0.134883	1	0
P4HA1	5033	broad.mit.edu	37	10	74813238	74813238	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:74813238T>A	ENST00000412021.2	-	7	907	c.574A>T	c.(574-576)Agg>Tgg	p.R192W	P4HA1_ENST00000373008.2_Missense_Mutation_p.R192W|P4HA1_ENST00000263556.3_Missense_Mutation_p.R192W|P4HA1_ENST00000307116.2_Missense_Mutation_p.R192W|P4HA1_ENST00000394890.2_Missense_Mutation_p.R192W|P4HA1_ENST00000440381.1_Missense_Mutation_p.R192W	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	192						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGTTGCCTTAGGGCTTGT	0.443000													37	90					0	0	0.098360	0	0
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:100486665C>T	ENST00000395209.3	+	3	556	c.29C>T	c.(28-30)cCt>cTt	p.P10L	DRP2_ENST00000538510.1_Missense_Mutation_p.P10L|DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Missense_Mutation_p.P10L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537000													50	125					0	0	0.139131	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884560	24884560	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:24884560C>G	ENST00000382554.3	+	9	3923	c.3605C>G	c.(3604-3606)cCc>cGc	p.P1202R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1202					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCAGGGCCCCCAGTCAGGG	0.622000													33	146					0	0	0.069456	0	0
FAM46D	169966	broad.mit.edu	37	X	79698469	79698469	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:79698469G>T	ENST00000538312.1	+	5	765	c.431G>T	c.(430-432)tGg>tTg	p.W144L	FAM46D_ENST00000308293.5_Missense_Mutation_p.W144L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	144										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CATGATTGTTGGAGTCTTATC	0.368000													48	100					2.6238e-40	3.8603e-40	0.139131	1	0
C8B	732	broad.mit.edu	37	1	57399015	57399015	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:57399015G>A	ENST00000543257.1	-	11	1955	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	C8B_ENST00000371237.4_Silent_p.V515V|C8B_ENST00000535057.1_Silent_p.V453V	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	515	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTTTCAGGACAGGGACTC	0.552000													17	30					0	0	0.049695	0	0
CENPE	1062	broad.mit.edu	37	4	104060953	104060953	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104060953A>T	ENST00000265148.3	-	38	6286	c.6197T>A	c.(6196-6198)aTa>aAa	p.I2066K	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2066					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CACTCTAGCTATCATTTCCCT	0.313000													25	29					0	0	0.108266	0	0
AOC4P	90586	broad.mit.edu	37	17	41019561	41019561	+	RNA	SNP	A	A	G	rs28691051		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:41019561A>G	ENST00000585538.1	+	0	400					NR_002773.1																						GCCCAGGCCCAGCCCTCGGAC	0.662000													13	194					0	0	0.076483	0	0
SELP	6403	broad.mit.edu	37	1	169586578	169586578	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:169586578G>C	ENST00000263686.6	-	3	206	c.169C>G	c.(169-171)Cgt>Ggt	p.R57G	SELP_ENST00000367792.2_Missense_Mutation_p.R57G|SELP_ENST00000367793.2_Missense_Mutation_p.R57G|SELP_ENST00000367794.2_Missense_Mutation_p.R57G|SELP_ENST00000367791.2_Missense_Mutation_p.R57G|SELP_ENST00000367788.2_Missense_Mutation_p.R57G|SELP_ENST00000458599.2_Missense_Mutation_p.R57G|SELP_ENST00000367786.2_Missense_Mutation_p.R57G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	57					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGTATTTACGGGAAATATTC	0.408000													46	104					0	0	0.139131	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96209968	96209968	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:96209968G>A	ENST00000375412.5	-	3	1578	c.696C>T	c.(694-696)agC>agT	p.S232S	FAM120AOS_ENST00000423591.1_Silent_p.S50S|FAM120AOS_ENST00000479094.1_5'UTR	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	232										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						TGACAGAACAGCTTCTGGAAA	0.333000													14	99					0	0	0.105934	0	0
SAMD7	344658	broad.mit.edu	37	3	169639092	169639092	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169639092T>C	ENST00000428432.2	+	4	566	c.177T>C	c.(175-177)aaT>aaC	p.N59N	SAMD7_ENST00000335556.3_Silent_p.N59N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	59										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAACACAAATATGGCAAATG	0.438000													29	124					0	0	0.144211	0	0
MED12L	116931	broad.mit.edu	37	3	151082978	151082978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:151082978C>T	ENST00000474524.1	+	20	3102	c.3064C>T	c.(3064-3066)Cat>Tat	p.H1022Y	MED12L_ENST00000273432.4_Missense_Mutation_p.H882Y|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1022					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTATGGGCCATCAGGATGC	0.463000													79	126					0	0	0.139131	0	0
MRC1	4360	broad.mit.edu	37	10	17891588	17891588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:17891588G>T	ENST00000331429.2	+	7	1172	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	MRC1L1_ENST00000457317.1_Missense_Mutation_p.D357Y																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTAGAAAGTGATGTGCCTAC	0.363000													18	54					5.3912e-06	5.91492e-06	0.175082	1	0
ALKBH3	221120	broad.mit.edu	37	11	43941467	43941467	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:43941467G>A	ENST00000302708.4	+	10	1179		c.e10-1		ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_Splice_Site	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TTTCCATTTAGCATCGAGTGC	0.423000								Direct reversal of damage					12	75					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179482708	179482708	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179482708G>T	ENST00000589042.1	-	253	47594	c.47370C>A	c.(47368-47370)atC>atA	p.I15790I	TTN_ENST00000460472.2_Silent_p.I6725I|TTN_ENST00000342992.6_Silent_p.I13222I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.I6917I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.I14149I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I6850I|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14149	Fibronectin type-III 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTAGTTTGTGATCTCAGCAC	0.458000													24	74					2.79863e-10	3.41167e-10	0.099896	1	0
FOXN2	3344	broad.mit.edu	37	2	48600434	48600434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:48600434C>A	ENST00000340553.3	+	6	968	c.707C>A	c.(706-708)tCt>tAt	p.S236Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	236					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTTTCAGAATCTGATATTGAT	0.289000													24	55					5.61819e-17	7.51702e-17	0.108266	1	0
MUC5B	727897	broad.mit.edu	37	11	1271213	1271213	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:1271213C>T	ENST00000447027.1	+	31	13170	c.13112C>T	c.(13111-13113)aCg>aTg	p.T4371M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4368M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642000													10	78					0	0	0.080935	0	0
SASH1	23328	broad.mit.edu	37	6	148869664	148869664	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:148869664C>T	ENST00000367467.3	+	20	4189	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1238	SAM 2.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGACTCTTCAAACTGCCGC	0.557000													26	79					0	0	0.108266	0	0
OR6X1	390260	broad.mit.edu	37	11	123625128	123625128	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:123625128G>A	ENST00000327930.2	-	1	125	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGTTAATATGTAGGTGAGAA	0.423000													13	94					0	0	0.093190	0	0
PIR	8544	broad.mit.edu	37	X	15497928	15497928	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:15497928G>T	ENST00000380421.3	-	3	573	c.113C>A	c.(112-114)cCg>cAg	p.P38Q	PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Missense_Mutation_p.P38Q	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	38					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CAGTAAAAACGGATCCAGATT	0.343000													9	35					7.48243e-07	8.35248e-07	0.058154	1	0
KRT18	3875	broad.mit.edu	37	12	53343350	53343350	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53343350G>A	ENST00000550600.1	+	2	447	c.393G>A	c.(391-393)aaG>aaA	p.K131K	KRT18_ENST00000388835.3_Silent_p.K131K|KRT8_ENST00000549198.1_5'UTR|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388837.2_Silent_p.K131K			P05783	K1C18_HUMAN	keratin 18	131	Linker 1.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ATTACTTCAAGATCATCGAGG	0.557000													9	29					0	0	0.093190	0	0
SHOC2	8036	broad.mit.edu	37	10	112724466	112724466	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:112724466C>G	ENST00000369452.4	+	2	695	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	117					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATATTGCCATCATCAATCAAA	0.383000													27	47					0	0	0.099896	0	0
KCNB2	9312	broad.mit.edu	37	8	73848928	73848928	+	Silent	SNP	C	C	T	rs141965461		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:73848928C>T	ENST00000523207.1	+	3	1926	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	446					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAAAAGGAACGGAAGCATCG	0.453000													36	82					0	0	0.086207	0	0
TPO	7173	broad.mit.edu	37	2	1440052	1440052	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:1440052C>A	ENST00000345913.4	+	5	469	c.378C>A	c.(376-378)atC>atA	p.I126I	TPO_ENST00000382201.3_Silent_p.I126I|TPO_ENST00000382269.3_Silent_p.I126I|TPO_ENST00000349624.3_Silent_p.I126I|TPO_ENST00000337415.3_Silent_p.I126I|TPO_ENST00000539820.1_Silent_p.I126I|TPO_ENST00000329066.4_Silent_p.I126I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.I126I|TPO_ENST00000382198.1_Silent_p.I126I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	126					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCTGAGCATCATTGCAAACA	0.433000													29	60					1.16021e-09	1.3836e-09	0.125774	1	0
MYOCD	93649	broad.mit.edu	37	17	12618891	12618891	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:12618891G>A	ENST00000425538.1	+	3	377	c.177_splice	c.e3+1	p.K59_splice	MYOCD_ENST00000343344.4_Splice_Site_p.K59_splice	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	59					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATAGTGACAAGGTAATTTTTG	0.408000													12	46					0	0	0.093190	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030105	95030105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:95030105C>A	ENST00000557004.1	+	2	707	c.286C>A	c.(286-288)Cac>Aac	p.H96N	SERPINA4_ENST00000555095.1_Missense_Mutation_p.H96N|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H96N|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	96					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGCCTGCTCACACAGCCGCAG	0.607000													15	37					9.16793e-09	1.06681e-08	0.160694	1	0
ATP8B2	57198	broad.mit.edu	37	1	154318808	154318808	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:154318808G>C	ENST00000368489.3	+	25	2979	c.2979G>C	c.(2977-2979)caG>caC	p.Q993H		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	979					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCATCGCCCAGGGCATCTACA	0.562000													22	52					0	0	0.091800	0	0
ERBB4	2066	broad.mit.edu	37	2	212522687	212522687	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:212522687C>A	ENST00000402597.1	-	16	1903	c.1904G>T	c.(1903-1905)gGc>gTc	p.G635V	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000342788.4_Intron			Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	635					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCCATCAGGCCGATGCAGTC	0.413000										TSP Lung(8;0.080)			15	12					2.23348e-06	2.46453e-06	0.146539	1	0
NKAP	79576	broad.mit.edu	37	X	119077487	119077487	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:119077487G>T	ENST00000371410.3	-	1	248	c.82C>A	c.(82-84)Ccg>Acg	p.P28T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	28	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTGGGCTTCGGACTCTTCGAC	0.701000													19	39					6.44725e-10	7.78536e-10	0.069288	1	0
BACE2	25825	broad.mit.edu	37	21	42647329	42647329	+	Missense_Mutation	SNP	C	C	T	rs151128615		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:42647329C>T	ENST00000328735.6	+	8	1629	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000330333.6_Silent_p.S445S|BACE2_ENST00000347667.4_Silent_p.S395S	NM_138992.1	NP_620477.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	0					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTGAAATTTCCGGGCCTTTCT	0.517000													4	83					0	0	0.014758	0	0
ACAD11	84129	broad.mit.edu	37	3	132378568	132378568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:132378568C>A	ENST00000264990.6	-	1	999	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.D10Y|ACAD11_ENST00000489991.1_5'UTR|UBA5_ENST00000356232.4_5'UTR|UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.D10Y	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCGGCCAAATCGGACTCGCCA	0.602000											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	114					1.49906e-05	1.62152e-05	0.119110	1	0
GPR63	81491	broad.mit.edu	37	6	97246721	97246721	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:97246721A>T	ENST00000229955.3	-	2	1232	c.887T>A	c.(886-888)cTg>cAg	p.L296Q	GPR63_ENST00000417980.1_Missense_Mutation_p.L296Q	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	296						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGTCTCTGCAGACTCATGAG	0.498000													18	56					0	0	0.160694	0	0
ZNF532	55205	broad.mit.edu	37	18	56651435	56651435	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:56651435C>G	ENST00000336078.4	+	11	4419	c.3643C>G	c.(3643-3645)Cac>Gac	p.H1215D	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591083.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591808.1_Missense_Mutation_p.H1215D|ZNF532_ENST00000591230.1_Missense_Mutation_p.H1215D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTACACGTCTCACGTCTCTCT	0.527000													7	58					0	0	0.029380	0	0
KRT1	3848	broad.mit.edu	37	12	53072487	53072487	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:53072487C>T	ENST00000252244.3	-	2	703	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	215	Coil 1A.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTACCTGCTGCAGCAGCTCCC	0.463000													25	51					0	0	0.116897	0	0
DNAH5	1767	broad.mit.edu	37	5	13845071	13845071	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13845071G>T	ENST00000265104.4	-	32	5250	c.5146C>A	c.(5146-5148)Cgg>Agg	p.R1716R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1716	Stem (By similarity).		R -> L (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443000									Kartagener syndrome				17	50					1.67942e-08	1.94246e-08	0.175082	1	0
BEND2	139105	broad.mit.edu	37	X	18220019	18220019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18220019C>T	ENST00000380033.4	-	6	1081	c.949G>A	c.(949-951)Gag>Aag	p.E317K	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	317										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCGCTGTCTCAGTGCTGTTT	0.363000													31	86					0	0	0.144211	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067895	60067895	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:60067895G>A	ENST00000505959.1	-	6	577	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ELOVL7_ENST00000425382.1_Silent_p.L30L|ELOVL7_ENST00000508821.1_Silent_p.L30L|ELOVL7_ENST00000438340.1_Silent_p.L30L			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	30					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCGAGGACATGAGGAGCCAAT	0.438000													6	24					0	0	0.021553	0	0
PARK2	5071	broad.mit.edu	37	6	162683729	162683729	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683729C>A	ENST00000366898.1	-	3	342	c.240G>T	c.(238-240)atG>atT	p.M80I	PARK2_ENST00000366892.1_Missense_Mutation_p.M80I|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.M80I	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	80					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGTTGCATTCATTTCTTGAC	0.527000													12	39					4.36969e-10	5.29325e-10	0.105934	1	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128849001	128849001	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:128849001T>C	ENST00000418265.1	-	11	841	c.781A>G	c.(781-783)Atg>Gtg	p.M261V	ISY1_ENST00000393292.3_3'UTR|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.M283V|ISY1_ENST00000393295.3_Missense_Mutation_p.M261V	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		261						catalytic step 2 spliceosome											AGGAGTTCCATTTTCTTCCTT	0.567000													26	104					0	0	0.099896	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554405	140554405	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140554405G>T	ENST00000231137.3	+	1	2163	c.1989G>T	c.(1987-1989)gtG>gtT	p.V663V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		663	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGGTGGACGGCTTCT	0.697000													13	45					9.16793e-09	1.06681e-08	0.160694	1	0
GOLGA8G	283768	broad.mit.edu	37	15	28769089	28769089	+	Splice_Site	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:28769089C>T	ENST00000525590.2	-	15	1468	c.1407_splice	c.e15+1	p.M469_splice	GOLGA8G_ENST00000329523.6_Intron																lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		TCAGGCTTACCATGGCCTCCC	0.582000													12	89					0	0	0.105934	0	0
KRT24	192666	broad.mit.edu	37	17	38856487	38856487	+	Missense_Mutation	SNP	C	C	G	rs150081982		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:38856487C>G	ENST00000264651.2	-	4	1060	c.1004G>C	c.(1003-1005)cGg>cCg	p.R335P		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	335	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTGTTGAACCGCTCCTCAGC	0.547000													37	98					0	0	0.139131	0	0
BTG1	694	broad.mit.edu	37	12	92538007	92538007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:92538007C>A	ENST00000256015.3	-	2	726	c.365G>T	c.(364-366)tGt>tTt	p.C122F		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	122					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ATACAGCACACAGATGGAGCC	0.512000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	71					4.26978e-12	5.35815e-12	0.083992	1	0
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:14154580G>A	ENST00000295767.5	-	4	599	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CHCHD4_ENST00000396914.3_Missense_Mutation_p.T79M	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522000													22	17					0	0	0.055883	0	0
MIR196A2	406973	broad.mit.edu	37	12	54385611	54385611	+	RNA	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:54385611C>G	ENST00000385189.1	+	0	90					NR_029617.1																						TGAGTTACATCAGTCGGTTTT	0.567000													7	20					0	0	0.029380	0	0
RIF1	55183	broad.mit.edu	37	2	152321320	152321320	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:152321320A>G	ENST00000243326.4	+	29	5769	c.5286A>G	c.(5284-5286)acA>acG	p.T1762T	RIF1_ENST00000444746.2_Silent_p.T1762T|RIF1_ENST00000453091.2_Silent_p.T1762T|RIF1_ENST00000428287.2_Silent_p.T1762T|RIF1_ENST00000430328.2_Silent_p.T1762T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1762					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTAGTGAAACAAAAAAGGCAG	0.368000													20	57					0	0	0.049695	0	0
CBLN2	147381	broad.mit.edu	37	18	70209049	70209049	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:70209049T>A	ENST00000269503.4	-	3	1120	c.347A>T	c.(346-348)tAt>tTt	p.Y116F	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.Y116F|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	116	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTGGTCGAAATAGATGGTCAT	0.706000													10	11					0	0	0.105934	0	0
HDAC9	9734	broad.mit.edu	37	7	18687533	18687533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:18687533G>C	ENST00000406451.3	+	10	1302	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D	HDAC9_ENST00000401921.1_Missense_Mutation_p.E343D|HDAC9_ENST00000456174.2_Missense_Mutation_p.E356D|HDAC9_ENST00000524023.1_Missense_Mutation_p.E307D|HDAC9_ENST00000417496.2_Missense_Mutation_p.E382D|HDAC9_ENST00000428307.2_Missense_Mutation_p.E340D|HDAC9_ENST00000441542.2_Missense_Mutation_p.E387D|HDAC9_ENST00000406072.1_Missense_Mutation_p.E371D|HDAC9_ENST00000432645.2_Missense_Mutation_p.E384D|HDAC9_ENST00000405010.3_Missense_Mutation_p.E384D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	384					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTACTTTAGAGGGAAAGCCAC	0.498000													6	7					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179494132	179494132	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179494132T>A	ENST00000589042.1	-	240	44544	c.44320A>T	c.(44320-44322)Acc>Tcc	p.T14774S	TTN_ENST00000460472.2_Missense_Mutation_p.T5709S|TTN_ENST00000342992.6_Missense_Mutation_p.T12206S|TTN_ENST00000342175.6_Missense_Mutation_p.T5901S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T13133S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5834S|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13133	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTCACGGTGACATCCTTT	0.463000													46	24					0	0	0.139131	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345088	38345088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:38345088G>A	ENST00000374618.3	+	5	2214	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	ZNF33A_ENST00000432900.2_Missense_Mutation_p.G685E|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G678E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.G678E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	678						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTAAAATCAGGACTTATTTTC	0.388000													20	92					0	0	0.055883	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869807	22869807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:22869807C>T	ENST00000302097.3	-	2	400	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAAATCATCCCGACAAAGAGA	0.423000													4	77					0	0	0.150653	0	0
RNF17	56163	broad.mit.edu	37	13	25451323	25451323	+	Splice_Site	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:25451323T>C	ENST00000255324.5	+	34	4824	c.4773_splice	c.e34+1	p.M1591_splice	RNF17_ENST00000381921.1_Splice_Site_p.M1549_splice|RNF17_ENST00000339524.3_Splice_Site_p.M601_splice	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1591					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTGTGTCCATGGTAAGTGTC	0.413000													15	17					0	0	0.119110	0	0
CFHR4	10877	broad.mit.edu	37	1	196882035	196882035	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:196882035C>T	ENST00000367416.2	+	7	1297	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V	CFHR4_ENST00000251424.4_Missense_Mutation_p.A141V|CFHR4_ENST00000367418.1_Missense_Mutation_p.A141V|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATGGTCAGCACAACCAATT	0.308000													35	95					0	0	0.104719	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820545	159820545	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:159820545G>T	ENST00000497452.1	-	0	517																											CTAAAAAGACGGATGTTGCTG	0.383000													34	25					1.03484e-13	1.32902e-13	0.080422	1	0
RGS7	6000	broad.mit.edu	37	1	241099909	241099909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:241099909G>T	ENST00000366565.1	-	5	705	c.324C>A	c.(322-324)taC>taA	p.Y108*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.Y24*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Y108*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Y108*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Y82*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	108	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGAAACCGGTAAAAGGTGC	0.403000													15	58					2.31682e-05	2.49904e-05	0.132662	1	0
PEG10	23089	broad.mit.edu	37	7	94293079	94293079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:94293079C>G	ENST00000482108.1	+	2	690	c.211C>G	c.(211-213)Ccc>Gcc	p.P71A	PEG10_ENST00000488574.1_Missense_Mutation_p.P71A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	71					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCTGCCCCACCCCCTCCAAT	0.582000													7	13					0	0	0.029380	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656083	167656083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:167656083C>T	ENST00000357154.3	-	12	1437	c.1300G>A	c.(1300-1302)Gta>Ata	p.V434I	SPOCK3_ENST00000541637.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000541354.1_Missense_Mutation_p.V314I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.V383I|SPOCK3_ENST00000502330.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.V338I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.V431I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.V336I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.V391I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.V434I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.V431I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.V302I	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	434	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		caaatgtatacatcatggtca	0.303000													20	23					0	0	0.049695	0	0
DLG3	1741	broad.mit.edu	37	X	69699025	69699025	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:69699025A>T	ENST00000194900.4	+	11	1826	c.1485A>T	c.(1483-1485)atA>atT	p.I495I	DLG3_ENST00000374355.3_Silent_p.I140I|DLG3_ENST00000542398.1_5'UTR|DLG3_ENST00000374360.3_Silent_p.I477I			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	477					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AATCGAAGATACATGACTTAC	0.483000													37	112					0	0	0.080422	0	0
OGDH	4967	broad.mit.edu	37	7	44733439	44733439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:44733439G>T	ENST00000222673.5	+	11	1393	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	OGDH_ENST00000449767.1_Missense_Mutation_p.D447Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D462Y|OGDH_ENST00000444676.1_Missense_Mutation_p.D466Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D301Y|OGDH_ENST00000543843.1_Missense_Mutation_p.D402Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	451					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTTCACCACCGACCCTCGGAT	0.647000													8	12					3.09899e-07	3.48977e-07	0.047766	1	0
TMEM132C	92293	broad.mit.edu	37	12	128899828	128899828	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:128899828G>T	ENST00000435159.2	+	2	637	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	213						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGTGGGTGCCGGGAGGAAGAA	0.672000													3	8					0.115264	0.116785	0.115264	1	0
SAAL1	113174	broad.mit.edu	37	11	18112026	18112026	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:18112026T>A	ENST00000524803.1	-	5	477	c.428A>T	c.(427-429)cAc>cTc	p.H143L	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.H143L|SAAL1_ENST00000300013.4_Missense_Mutation_p.H143L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	143					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						ATACAAACAGTGCAATAACAC	0.333000													3	16					0	0	0.150653	0	0
C6orf165	154313	broad.mit.edu	37	6	88125575	88125575	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:88125575C>G	ENST00000507897.1	+	5	538	c.455C>G	c.(454-456)aCt>aGt	p.T152S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T152S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	152										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GACATCAAGACTGTCAGAGAG	0.363000													7	53					0	0	0.029380	0	0
TRMT1	55621	broad.mit.edu	37	19	13221060	13221060	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:13221060C>A	ENST00000592062.1	-	9	1501	c.931G>T	c.(931-933)Gtg>Ttg	p.V311L	TRMT1_ENST00000437766.1_Missense_Mutation_p.V311L|TRMT1_ENST00000357720.4_Missense_Mutation_p.V311L|TRMT1_ENST00000221504.8_Missense_Mutation_p.V311L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	311							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGCAGCGGCACCACGAAGCGC	0.652000													21	20					1.50039e-11	1.87062e-11	0.062417	1	0
FABP7	2173	broad.mit.edu	37	6	123102351	123102351	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:123102351C>A	ENST00000356535.4	+	3	396	c.360C>A	c.(358-360)gaC>gaA	p.D120E	FABP7_ENST00000368444.3_Intron			O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	0					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TAAGTAATGACAATTCTCCAT	0.408000													9	21					1.08611e-07	1.23758e-07	0.080935	1	0
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:29126100G>A	ENST00000261590.8	+	15	2960	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	917					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463000													4	92					0	0	0.150653	0	0
FAM83C	128876	broad.mit.edu	37	20	33874604	33874604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:33874604C>T	ENST00000374408.3	-	4	2074	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	660										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCGTGCGAGCAGGGCTTGAT	0.627000													12	37					0	0	0.093190	0	0
OR1S2	219958	broad.mit.edu	37	11	57971606	57971606	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:57971606T>G	ENST00000302592.6	-	1	47	c.48A>C	c.(46-48)caA>caC	p.Q16H		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q16Q(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTTGGTTTTCTTGATGCATAT	0.408000													11	66					0	0	0.069234	0	0
CHST2	9435	broad.mit.edu	37	3	142840860	142840860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142840860G>A	ENST00000309575.3	+	2	2586	c.1202G>A	c.(1201-1203)aGt>aAt	p.S401N		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	401					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ATCTGCAATAGTATGGCTAAG	0.652000													23	129					0	0	0.076483	0	0
TCERG1	10915	broad.mit.edu	37	5	145850238	145850238	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:145850238C>T	ENST00000296702.5	+	8	1477	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P459L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	480	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTAAAGAACCCTCTGAAGAG	0.388000													13	24					0	0	0.132662	0	0
COL3A1	1281	broad.mit.edu	37	2	189864214	189864214	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:189864214G>T	ENST00000304636.3	+	31	2310	c.2140G>T	c.(2140-2142)Ggg>Tgg	p.G714W	COL3A1_ENST00000317840.5_Missense_Mutation_p.G714W	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	714	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGGCCACCTGG	0.473000													98	49					8.78727e-49	1.30282e-48	0.139131	1	0
ZAN	7455	broad.mit.edu	37	7	100345803	100345803	+	RNA	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:100345803T>A	ENST00000542585.1	+	0	1215				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGCCAGCTGTGGCAGTTGAT	0.622000													14	37					0	0	0.132662	0	0
CNTN6	27255	broad.mit.edu	37	3	1414594	1414594	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:1414594A>G	ENST00000446702.2	+	14	2368	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	CNTN6_ENST00000350110.2_Missense_Mutation_p.T581A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T509A			Q9UQ52	CNTN6_HUMAN	contactin 6	581	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CACAGTACAAACAACCCTAGA	0.368000													34	50					0	0	0.153744	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948750	37948750	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:37948750G>A	ENST00000373087.6	+	6	1454	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	446					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGAGCCAGATGTCGGAAC	0.647000													3	44					0	0	0.115264	0	0
EYA2	2139	broad.mit.edu	37	20	45633631	45633631	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:45633631A>T	ENST00000327619.5	+	4	580	c.206A>T	c.(205-207)tAc>tTc	p.Y69F	EYA2_ENST00000317304.6_Missense_Mutation_p.Y69F|EYA2_ENST00000357410.3_Missense_Mutation_p.Y69F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	69					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATGGCAGCCTACGGCCAGACG	0.587000													18	66					0	0	0.049695	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924356	105924356	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:105924356A>T	ENST00000526793.1	-	3	1219	c.1060T>A	c.(1060-1062)Tgt>Agt	p.C354S	KBTBD3_ENST00000534815.1_Missense_Mutation_p.C275S|KBTBD3_ENST00000531837.1_Missense_Mutation_p.C354S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	350										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTTCGACAACATTTCCCTTTG	0.428000													19	36					0	0	0.175082	0	0
ATP2B3	492	broad.mit.edu	37	X	152814263	152814263	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:152814263C>A	ENST00000370186.1	+	8	1573	c.1247C>A	c.(1246-1248)cCa>cAa	p.P416Q	ATP2B3_ENST00000349466.2_Missense_Mutation_p.P430Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P430Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P430Q|ATP2B3_ENST00000370181.2_Missense_Mutation_p.P416Q|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P416Q			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	430					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTGTCCCAGAGGGCCTG	0.502000													11	50					6.40141e-05	6.80926e-05	0.080935	1	0
OR2T1	26696	broad.mit.edu	37	1	248569749	248569749	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248569749T>C	ENST00000366474.1	+	1	454	c.454T>C	c.(454-456)Ttc>Ctc	p.F152L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTCAACACTTCCTCTACCT	0.478000													43	104					0	0	0.111260	0	0
DMXL1	1657	broad.mit.edu	37	5	118500343	118500343	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:118500343C>T	ENST00000311085.8	+	20	4924	c.4844C>T	c.(4843-4845)aCc>aTc	p.T1615I	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1615I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1615										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTCCGGAATACCCGCATCTTA	0.403000													25	36					0	0	0.099896	0	0
MXRA5	25878	broad.mit.edu	37	X	3235195	3235195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:3235195G>T	ENST00000217939.6	-	6	6681	c.6527C>A	c.(6526-6528)cCg>cAg	p.P2176Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2176	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGATGCGCGGCCAGGGGTC	0.677000													5	7					8.12818e-05	8.62216e-05	0.029380	1	0
GEMIN2	8487	broad.mit.edu	37	14	39597527	39597527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:39597527G>A	ENST00000308317.6	+	7	691	c.608G>A	c.(607-609)gGa>gAa	p.G203E	GEMIN2_ENST00000250379.8_Missense_Mutation_p.G188E|GEMIN2_ENST00000396249.2_Missense_Mutation_p.G203E	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	203					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										AATTGGTTTGGAGAAAGAGAC	0.343000													23	127					0	0	0.091800	0	0
FBN1	2200	broad.mit.edu	37	15	48807700	48807700	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:48807700T>A	ENST00000316623.5	-	12	1807	c.1352A>T	c.(1351-1353)gAt>gTt	p.D451V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	451	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGCAGTAATCAGTAACGTT	0.438000													10	84					0	0	0.080935	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588619	20588619	+	RNA	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:20588619C>T	ENST00000428453.1	-	0	4131																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCTCCTTCTCACACACTGAG	0.403000													10	32					0	0	0.058154	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802666	109802666	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:109802666C>G	ENST00000230122.3	-	2	731	c.564G>C	c.(562-564)gtG>gtC	p.V188V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGAATTGTTCACTCTTAACT	0.413000													65	187					0	0	0.139131	0	0
USP29	57663	broad.mit.edu	37	19	57641701	57641701	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:57641701G>T	ENST00000254181.4	+	4	2112	c.1658G>T	c.(1657-1659)aGt>aTt	p.S553I	USP29_ENST00000598197.1_Missense_Mutation_p.S553I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	553					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S553I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTTGAGCAGTAGTGCACCT	0.423000													39	175					8.16277e-20	1.11947e-19	0.092188	1	0
DIAPH2	1730	broad.mit.edu	37	X	96220178	96220178	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:96220178G>T	ENST00000324765.8	+	17	2369	c.2022G>T	c.(2020-2022)ttG>ttT	p.L674F	DIAPH2_ENST00000355827.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L674F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L674F|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L670F			O60879	DIAP2_HUMAN	diaphanous-related formin 2	674	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTGCCAAATTGGCATTGAATT	0.303000													9	26					0.000274275	0.0002862	0.047766	1	0
NAV3	89795	broad.mit.edu	37	12	78444759	78444759	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:78444759C>T	ENST00000397909.2	+	11	2521	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	NAV3_ENST00000228327.6_Missense_Mutation_p.T783M|NAV3_ENST00000266692.7_Missense_Mutation_p.T783M|NAV3_ENST00000536525.2_Missense_Mutation_p.T783M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGTATACCACGCCTCTCCGT	0.552000										HNSCC(70;0.22)			10	30					0	0	0.080935	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523125	71523125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:71523125G>T	ENST00000393330.2	-	11	1198	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	TSPAN8_ENST00000552128.1_Missense_Mutation_p.L133M|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L216M|TSPAN8_ENST00000546561.1_Missense_Mutation_p.L216M			P19075	TSN8_HUMAN	tetraspanin 8	216					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATAACTGCCAGTCCAAATGAT	0.274000													3	21					1.23904e-05	1.34404e-05	0.014758	1	0
SMS	6611	broad.mit.edu	37	X	21995233	21995233	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21995233C>A	ENST00000404933.2	+	5	636	c.384C>A	c.(382-384)gaC>gaA	p.D128E	SMS_ENST00000415881.2_Missense_Mutation_p.D32E|SMS_ENST00000379404.1_Missense_Mutation_p.D75E|SMS_ENST00000478094.1_3'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	128					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CCACCGCCGACGGGCGCCTGG	0.428000													27	60					7.41945e-09	8.68619e-09	0.108266	1	0
CD226	10666	broad.mit.edu	37	18	67531612	67531612	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:67531612T>A	ENST00000280200.4	-	7	1217	c.949A>T	c.(949-951)Aca>Tca	p.T317S	CD226_ENST00000577287.1_Missense_Mutation_p.T162S|CD226_ENST00000582621.1_Missense_Mutation_p.T317S|CD226_ENST00000581982.1_Missense_Mutation_p.T162S	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	317					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCTCTCTTGTATCATCCATG	0.388000													33	61					0	0	0.183431	0	0
KIF17	57576	broad.mit.edu	37	1	20992741	20992741	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:20992741G>A	ENST00000247986.2	-	14	3187	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.S958S|KIF17_ENST00000375044.1_Silent_p.S859S			Q9P2E2	KIF17_HUMAN	kinesin family member 17	959					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAGGATCTGGCTGGCCCGCT	0.577000													31	43					0	0	0.163468	0	0
COL6A5	256076	broad.mit.edu	37	3	130189796	130189796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130189796C>A	ENST00000265379.6	+	39	8053	c.7559C>A	c.(7558-7560)aCa>aAa	p.T2520K	COL6A5_ENST00000432398.2_Missense_Mutation_p.T2520K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2520	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AACGGTGGCACAGAAAACACT	0.418000													6	33					0.00116845	0.00119649	0.021553	1	0
FAM115C	285966	broad.mit.edu	37	7	143417115	143417115	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:143417115C>T	ENST00000441159.2	+	3	1029	c.963C>T	c.(961-963)tgC>tgT	p.C321C	FAM115C_ENST00000409703.3_Silent_p.C157C|FAM115C_ENST00000425618.2_Silent_p.C40C|FAM115C_ENST00000444908.2_Silent_p.C321C|FAM115C_ENST00000411935.1_Silent_p.C157C|FAM115C_ENST00000411497.2_Silent_p.C40C|FAM115C_ENST00000357344.4_Silent_p.C321C			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	321										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGCAATGCAGCCTGGAGC	0.562000													15	69					0	0	0.069288	0	0
FAM179A	165186	broad.mit.edu	37	2	29255814	29255814	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:29255814A>G	ENST00000379558.4	+	15	2378	c.2027A>G	c.(2026-2028)aAg>aGg	p.K676R	FAM179A_ENST00000403861.2_Missense_Mutation_p.K621R|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	676							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TATGGCCGGAAGATGGTGAAT	0.403000													4	14					0	0	0.150653	0	0
TNK2	10188	broad.mit.edu	37	3	195597149	195597149	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:195597149C>A	ENST00000316664.3	-	11	1911	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Intron|TNK2_ENST00000333602.6_Intron|TNK2_ENST00000381916.2_Intron			Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	0				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATCAGAGCCCCTTCGTCCTGG	0.622000													19	9					1.2644e-06	1.40342e-06	0.055883	1	0
PCLO	27445	broad.mit.edu	37	7	82585441	82585441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:82585441G>A	ENST00000423517.2	-	5	5165	c.4828C>T	c.(4828-4830)Cga>Tga	p.R1610*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R1610*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1541					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAGTCAGTCGTCTGTGTTTC	0.428000													34	224					0	0	0.163468	0	0
PNMA2	10687	broad.mit.edu	37	8	26365761	26365761	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:26365761T>G	ENST00000522362.2	-	3	1405	c.511A>C	c.(511-513)Agt>Cgt	p.S171R		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	171					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gggacagcactccctgagaat	0.537000													15	75					0	0	0.146539	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119557	17119557	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr22:17119557G>T	ENST00000426585.1	+	0	369																											TATTCCTTCGGAGTATCGTTC	0.353000													12	30					3.27435e-08	3.76453e-08	0.119110	1	0
ERO1L	30001	broad.mit.edu	37	14	53112872	53112872	+	Splice_Site	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:53112872C>G	ENST00000395686.3	-	15	1569	c.1346_splice	c.e15+1	p.R449_splice		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	449					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TCAAACTAACCTTCCAAATGC	0.333000													14	34					0	0	0.132662	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785298	37785298	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:37785298G>T	ENST00000314103.4	+	12	1329	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	393					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGAACATGAGAACTCCTGAT	0.483000													15	35					2.48551e-13	3.17088e-13	0.160694	1	0
SLC5A5	6528	broad.mit.edu	37	19	17986870	17986870	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:17986870A>T	ENST00000222248.3	+	5	1000	c.653A>T	c.(652-654)cAg>cTg	p.Q218L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	218					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGGCCCCGCCAGGTGCTCACG	0.607000													25	106					0	0	0.134883	0	0
AGBL2	79841	broad.mit.edu	37	11	47712048	47712048	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:47712048T>A	ENST00000525123.1	-	10	1496	c.1211A>T	c.(1210-1212)cAa>cTa	p.Q404L	AGBL2_ENST00000528244.1_Missense_Mutation_p.Q366L|AGBL2_ENST00000357610.3_Missense_Mutation_p.Q404L|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q404L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	404					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAGGTAGCATTGCAAATCAGT	0.468000													14	58					0	0	0.119110	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820546	159820546	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:159820546G>T	ENST00000497452.1	-	0	517																											TAAAAAGACGGATGTTGCTGA	0.388000													33	24					5.71845e-15	7.44368e-15	0.080422	1	0
ZNF383	163087	broad.mit.edu	37	19	37733492	37733492	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:37733492A>T	ENST00000589413.1	+	8	937	c.354A>T	c.(352-354)ggA>ggT	p.G118G	ZNF383_ENST00000590503.1_Silent_p.G118G|ZNF383_ENST00000352998.3_Silent_p.G118G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTTTTGGAGATGTTTTGG	0.373000													37	57					0	0	0.098360	0	0
EPHA5	2044	broad.mit.edu	37	4	66230769	66230769	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:66230769A>G	ENST00000273854.3	-	12	2802	c.2202T>C	c.(2200-2202)ccT>ccC	p.P734P	EPHA5_ENST00000354839.4_Silent_p.P712P|EPHA5_ENST00000432638.2_Silent_p.P571P|EPHA5_ENST00000511294.1_Silent_p.P735P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	734	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGATGATGTTAGGATGATCAA	0.363000										TSP Lung(17;0.13)			34	45					0	0	0.086207	0	0
STK26	51765	broad.mit.edu	37	X	131207017	131207017	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:131207017G>C	ENST00000394334.2	+	11	1375	c.1122G>C	c.(1120-1122)agG>agC	p.R374S	MST4_ENST00000496850.1_Missense_Mutation_p.R312S|MST4_ENST00000481105.1_Missense_Mutation_p.R396S|MST4_ENST00000354719.6_Missense_Mutation_p.R350S|MST4_ENST00000394335.2_Missense_Mutation_p.R297S	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		374					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACGCTAGCAGGAATCAGGCGA	0.368000													44	68					0	0	0.117977	0	0
SLC44A5	204962	broad.mit.edu	37	1	75716976	75716976	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75716976G>A	ENST00000370855.5	-	7	377	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC44A5_ENST00000370859.3_Silent_p.N88N|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	88						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAATGGTCTTGTTCCTGTTAA	0.378000													13	26					0	0	0.119110	0	0
CARD6	84674	broad.mit.edu	37	5	40853726	40853726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:40853726G>A	ENST00000254691.5	+	3	2491	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	764					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAGGCCTAAGTGGTTCCATC	0.488000													60	128					0	0	0.139131	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197132	32197132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:32197132C>A	ENST00000375250.5	-	3	893	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E218*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E218*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGCTAAGTTCATCACCAGAT	0.378000													16	56					6.72482e-11	8.27671e-11	0.132662	1	0
CHAT	1103	broad.mit.edu	37	10	50828553	50828553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50828553T>G	ENST00000395562.2	+	5	815	c.346T>G	c.(346-348)Tgg>Ggg	p.W116G	CHAT_ENST00000337653.2_Missense_Mutation_p.W198G|CHAT_ENST00000339797.1_Missense_Mutation_p.W80G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.W80G|CHAT_ENST00000455728.2_Missense_Mutation_p.W80G|CHAT_ENST00000395559.2_Missense_Mutation_p.W80G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	198					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTCTGAGTACTGGCTGAATGA	0.597000													40	85					0	0	0.111260	0	0
BRINP1	1620	broad.mit.edu	37	9	122004443	122004443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:122004443G>T	ENST00000265922.3	-	4	922	c.461C>A	c.(460-462)tCa>tAa	p.S154*	DBC1_ENST00000373964.2_Nonsense_Mutation_p.S154*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		154	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGCATTCCCTGACTTCCTGTC	0.478000													38	18					6.19805e-25	8.88079e-25	0.080422	1	0
SPTA1	6708	broad.mit.edu	37	1	158624459	158624459	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:158624459G>T	ENST00000368148.3	-	21	3158	c.2978C>A	c.(2977-2979)cCc>cAc	p.P993H	SPTA1_ENST00000368147.3_Missense_Mutation_p.P993H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	993	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACTTCTCGGGGGCTGCGGGC	0.468000													11	25					9.31168e-06	1.01871e-05	0.105934	1	0
FUT8	2530	broad.mit.edu	37	14	66208932	66208932	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:66208932A>C	ENST00000360689.5	+	11	3259	c.1532A>C	c.(1531-1533)tAt>tCt	p.Y511S	FUT8_ENST00000557164.1_Missense_Mutation_p.Y348S|FUT8_ENST00000417683.1_Missense_Mutation_p.Y105S|FUT8_ENST00000394586.2_Missense_Mutation_p.Y511S|FUT8_ENST00000394585.1_Missense_Mutation_p.Y511S|FUT8_ENST00000358307.2_Missense_Mutation_p.Y382S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	511	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATTGCCATTTATGCTCACCAA	0.433000													38	77					0	0	0.092188	0	0
RGS7	6000	broad.mit.edu	37	1	240979618	240979618	+	Splice_Site	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:240979618T>A	ENST00000366565.1	-	11	1163	c.783_splice	c.e11+1	p.Q261_splice	RGS7_ENST00000446183.2_Splice_Site_p.Q177_splice|RGS7_ENST00000366564.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366562.4_Splice_Site_p.Q261_splice|RGS7_ENST00000407727.1_Splice_Site_p.Q261_splice|RGS7_ENST00000366563.1_Splice_Site_p.Q261_splice|RGS7_ENST00000348120.2_Splice_Site_p.Q208_splice|RGS7_ENST00000401882.1_Splice_Site_p.Q208_splice|RGS7_ENST00000331110.7_Splice_Site_p.Q235_splice	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	261	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACTCACCTGTTGTTGTAA	0.373000													30	91					0	0	0.069456	0	0
NPR2	4882	broad.mit.edu	37	9	35794092	35794092	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:35794092G>T	ENST00000342694.2	+	2	1120	c.865G>T	c.(865-867)Gcc>Tcc	p.A289S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	289					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	cctcagagaggcctttcaggt	0.577000													12	11					2.80697e-09	3.32678e-09	0.080935	1	0
PITPNM2	57605	broad.mit.edu	37	12	123489976	123489976	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:123489976G>C	ENST00000280562.5	-	6	968	c.763C>G	c.(763-765)Cgt>Ggt	p.R255G	PITPNM2_ENST00000320201.4_Missense_Mutation_p.R255G|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R255G|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	255					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.R255S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCCATCTTACGGGAAAGCATG	0.637000													39	113					0	0	0.074837	0	0
C11orf87	399947	broad.mit.edu	37	11	109294845	109294845	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:109294845T>G	ENST00000327419.6	+	2	889	c.486T>G	c.(484-486)tgT>tgG	p.C162W	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	162						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGGTCCCTGTGCTCCTCCGC	0.672000													7	40					0	0	0.029380	0	0
RBP3	5949	broad.mit.edu	37	10	48387902	48387902	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:48387902G>T	ENST00000224600.4	-	1	3089	c.2976C>A	c.(2974-2976)ctC>ctA	p.L992L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	992	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCTCCGGAGAGCATCTGCA	0.602000													31	91					6.04164e-23	8.52938e-23	0.153744	1	0
KMT2A	4297	broad.mit.edu	37	11	118343463	118343463	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:118343463G>A	ENST00000534358.1	+	3	1612	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K	KMT2A_ENST00000389506.5_Missense_Mutation_p.R530K|KMT2A_ENST00000354520.4_Missense_Mutation_p.R530K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAAGCAGAAGGTATTCAGTG	0.498000													13	85					0	0	0.105934	0	0
CHD6	84181	broad.mit.edu	37	20	40068726	40068726	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:40068726G>A	ENST00000373233.3	-	26	4098	c.3921C>T	c.(3919-3921)tgC>tgT	p.C1307C	CHD6_ENST00000309279.7_Silent_p.C790C	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1307					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTCCAGGAAGCAAAGTGCTG	0.473000													19	42					0	0	0.055883	0	0
ZNF876P	642280	broad.mit.edu	37	4	248278	248278	+	RNA	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:248278A>T	ENST00000356347.3	+	0	1102					NR_027481.1																						TGAACATAAGAATATTCATAC	0.373000													8	11					0	0	0.047766	0	0
KCNV1	27012	broad.mit.edu	37	8	110980809	110980809	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:110980809C>A	ENST00000524391.1	-	4	2043	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	KCNV1_ENST00000297404.1_Missense_Mutation_p.M337I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	337						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGTGATTGTCATCCCAAGGG	0.483000													16	37					3.32936e-07	3.73823e-07	0.175082	1	0
IL17F	112744	broad.mit.edu	37	6	52101905	52101905	+	Missense_Mutation	SNP	C	C	A	rs146083682		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:52101905C>A	ENST00000336123.4	-	3	423	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	106					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTGATGCAGCCCAAGTTCCTA	0.557000													8	18					0.000274275	0.0002862	0.047766	1	0
AMER1	139285	broad.mit.edu	37	X	63412151	63412151	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:63412151C>A	ENST00000330258.3	-	2	1288	c.1016G>T	c.(1015-1017)aGt>aTt	p.S339I	AMER1_ENST00000403336.1_Missense_Mutation_p.S339I|AMER1_ENST00000374869.3_Missense_Mutation_p.S339I	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GTCTGTCATACTGTCCATGTC	0.537000													86	119					4.869e-31	7.05546e-31	0.139131	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648802	75648802	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:75648802C>T	ENST00000361470.2	+	1	757	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	160	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCTGAGGTACCGAGCACCTCC	0.682000													12	46					0	0	0.132662	0	0
OR5K4	403278	broad.mit.edu	37	3	98073045	98073045	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:98073045G>T	ENST00000354924.2	+	1	348	c.348G>T	c.(346-348)gcG>gcT	p.A116A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTTCTGGCGACAATGGCCT	0.458000													177	140					1.29928e-97	1.94134e-97	0.139131	1	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785426	22785426	+	RNA	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:22785426C>A	ENST00000600260.1	+	0	1515					NR_033899.1																						GCAGCTGATGCAGGAAAAGGT	0.582000													20	66					8.04996e-18	1.08083e-17	0.062417	1	0
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:83290168C>G	ENST00000549919.1	+	4	3013	c.1208C>G	c.(1207-1209)aCg>aGg	p.T403R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000321196.3_Missense_Mutation_p.T409R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409						endoplasmic reticulum|integral to membrane	binding	p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418000													10	121					0	0	0.058154	0	0
NRIP3	56675	broad.mit.edu	37	11	9009771	9009771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9009771C>A	ENST00000309166.3	-	2	346	c.233G>T	c.(232-234)aGc>aTc	p.S78I	NRIP3_ENST00000531090.1_Missense_Mutation_p.S78I	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	78					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACGGGGACCGCTTCGGAGCTT	0.493000													42	54					2.26627e-22	3.18773e-22	0.098360	1	0
OR52E4	390081	broad.mit.edu	37	11	5906037	5906037	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:5906037G>T	ENST00000316987.2	+	1	537	c.515G>T	c.(514-516)gGg>gTg	p.G172V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTCTGTGGGCATAACATC	0.453000													32	57					8.73648e-17	1.16083e-16	0.069456	1	0
IGKV5-2	28907	broad.mit.edu	37	2	89197014	89197014	+	RNA	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:89197014C>A	ENST00000390244.2	+	0	122																											GATACCAGGGCAGAAACGACA	0.383000													18	20					6.94344e-10	8.35825e-10	0.175082	1	0
BIRC6	57448	broad.mit.edu	37	2	32726872	32726872	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32726872A>G	ENST00000421745.2	+	47	9258	c.9124A>G	c.(9124-9126)Acc>Gcc	p.T3042A		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3042					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CATACTGACAACCCTTAGTAA	0.403000													23	56					0	0	0.076483	0	0
CENPE	1062	broad.mit.edu	37	4	104079563	104079563	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:104079563T>A	ENST00000265148.3	-	24	3016	c.2927A>T	c.(2926-2928)cAt>cTt	p.H976L	CENPE_ENST00000380026.3_Missense_Mutation_p.H951L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	976					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTCTTGATGTTGTTTCAG	0.284000													8	3					0	0	0.038147	0	0
KLHL34	257240	broad.mit.edu	37	X	21675186	21675186	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21675186C>A	ENST00000379499.2	-	1	1262	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	241										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCACGAGGCCAGAGCCCGAG	0.677000													9	25					9.70103e-10	1.16412e-09	0.069234	1	0
PARK2	5071	broad.mit.edu	37	6	162683677	162683677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:162683677C>A	ENST00000366898.1	-	3	394	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PARK2_ENST00000366892.1_Nonsense_Mutation_p.E98*|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Nonsense_Mutation_p.E98*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	98					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGGGGCTCCCGCTCACAG	0.587000													17	45					0.00074312	0.000765035	0.175082	1	0
KCNMB3	27094	broad.mit.edu	37	3	178984452	178984452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:178984452C>A	ENST00000349697.2	-	1	307	c.47G>T	c.(46-48)cGg>cTg	p.R16L	KCNMB3_ENST00000497599.1_Missense_Mutation_p.R16L	NM_171828.1	NP_741979.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	0					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CTGGCGCCTCCGGCTGCCCTG	0.597000													24	31					2.89027e-11	3.5802e-11	0.069288	1	0
DOCK11	139818	broad.mit.edu	37	X	117788710	117788710	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:117788710C>G	ENST00000276204.6	+	43	4915	c.4841C>G	c.(4840-4842)aCc>aGc	p.T1614S	DOCK11_ENST00000276202.7_Missense_Mutation_p.T1614S			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1614	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGCAAGCACCCCAGAGCTC	0.433000													31	80					0	0	0.064281	0	0
TTN	7273	broad.mit.edu	37	2	179478783	179478783	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:179478783C>T	ENST00000589042.1	-	262	49565	c.49341G>A	c.(49339-49341)caG>caA	p.Q16447Q	TTN_ENST00000460472.2_Silent_p.Q7382Q|TTN_ENST00000342992.6_Silent_p.Q13879Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.Q7574Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.Q14806Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.Q7507Q|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14806	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTACCAAACTGATATTTGG	0.343000													23	9					0	0	0.076483	0	0
KCNH4	23415	broad.mit.edu	37	17	40330942	40330942	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:40330942A>G	ENST00000264661.3	-	2	511	c.179T>C	c.(178-180)gTc>gCc	p.V60A	KCNH4_ENST00000607371.1_Missense_Mutation_p.V60A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	60	PAS.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCTGCATGACCTCGGTGCG	0.637000													16	34					0	0	0.146539	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21350088	21350088	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:21350088C>A	ENST00000256958.2	+	8	1032	c.936C>A	c.(934-936)acC>acA	p.T312T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	312					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTAATTTGACCAATCAAGGAA	0.323000													15	39					3.45872e-05	3.7203e-05	0.146539	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737249	62737249	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:62737249G>A	ENST00000369768.1	-	1	1275	c.936C>T	c.(934-936)aaC>aaT	p.N312N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	312						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGGAAGGGGTTCAGGCACG	0.587000													18	39					0	0	0.055883	0	0
VSTM4	196740	broad.mit.edu	37	10	50255051	50255051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:50255051T>A	ENST00000332853.3	-	7	837	c.814A>T	c.(814-816)Aaa>Taa	p.K272*		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	272						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTCTGTGGTTTCAGCAGCTTC	0.468000													5	174					0	0	0.021553	0	0
SCN7A	6332	broad.mit.edu	37	2	167322306	167322306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:167322306G>C	ENST00000409855.1	-	7	982	c.856C>G	c.(856-858)Cca>Gca	p.P286A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	286					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATAATATGGGTTTCCAGTT	0.393000													64	37					0	0	0.139131	0	0
KCNA5	3741	broad.mit.edu	37	12	5154798	5154798	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:5154798C>T	ENST00000252321.3	+	1	1714	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	495						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGGGCAAGATCGTGGGCTCGC	0.602000													25	79					0	0	0.083992	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406489	92406489	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:92406489T>C	ENST00000309536.2	+	19	2199	c.1979T>C	c.(1978-1980)aTg>aCg	p.M660T	SLC26A7_ENST00000523719.1_Intron|SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTCCAACAATGCCACCGCTC	0.418000													21	34					0	0	0.069288	0	0
CCL25	6370	broad.mit.edu	37	19	8122770	8122770	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8122770G>C	ENST00000253451.4	+	5	514	c.408G>C	c.(406-408)aaG>aaC	p.K136N	CCL25_ENST00000390669.3_Missense_Mutation_p.K137N	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	137					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						gcagcagtaagaggaatgtct	0.478000													45	57					0	0	0.139131	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154604	9154604	+	Missense_Mutation	SNP	G	G	A	rs149803731		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:9154604G>A	ENST00000382496.5	-	12	2142	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	493					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCTACCTGCGTGTGCGGTAG	0.617000													19	39					0	0	0.043863	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017675	170017675	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:170017675T>C	ENST00000284637.9	-	12	3003	c.2662A>G	c.(2662-2664)Ata>Gta	p.I888V		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	888	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCTCCTCATATGTTTTCCACA	0.403000													31	47					0	0	0.183431	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221772	118221772	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:118221772G>T	ENST00000402510.2	-	11	3420	c.3421C>A	c.(3421-3423)Cgg>Agg	p.R1141R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1141										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATAGCAGCCCGCTCGAAATTT	0.468000													19	78					2.37509e-13	3.04012e-13	0.055883	1	0
CPPED1	55313	broad.mit.edu	37	16	12798612	12798612	+	Missense_Mutation	SNP	C	C	T	rs118082950	by1000genomes	TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:12798612C>T	ENST00000381774.4	-	3	824	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTGGCAGTGCCGCTGCCTCGC	0.602000													26	42					0	0	0.091800	0	0
U2SURP	23350	broad.mit.edu	37	3	142742816	142742816	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:142742816G>A	ENST00000473835.2	+	13	1320		c.e13-1		U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000397933.2_Intron	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTCATATACAGACTCTGTCGC	0.303000													7	64					0	0	0.029380	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532534	80532534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:80532534G>T	ENST00000373212.5	+	2	355	c.97G>T	c.(97-99)Gga>Tga	p.G33*	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	33						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CAACAAAATAGGATTTGAAGA	0.398000													11	40					6.81908e-15	8.84637e-15	0.119110	1	0
BICD1	636	broad.mit.edu	37	12	32458869	32458869	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:32458869C>T	ENST00000548411.1	+	4	999	c.818C>T	c.(817-819)gCc>gTc	p.A273V	BICD1_ENST00000281474.5_Missense_Mutation_p.A273V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	273					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCAAATTTGCCGAGGATGGG	0.448000													4	39					0	0	0.150653	0	0
DNAH5	1767	broad.mit.edu	37	5	13721172	13721172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:13721172A>T	ENST00000265104.4	-	71	12320	c.12216T>A	c.(12214-12216)taT>taA	p.Y4072*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4072	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGGACACATAACGGGTTT	0.517000									Kartagener syndrome				25	62					0	0	0.083992	0	0
PRDM5	11107	broad.mit.edu	37	4	121631548	121631548	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:121631548T>A	ENST00000515109.1	-	13	1721	c.1465A>T	c.(1465-1467)Aga>Tga	p.R489*	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.S517S|PRDM5_ENST00000264808.3_Silent_p.S548S			Q9NQX1	PRDM5_HUMAN	PR domain containing 5	0					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTGCACTCTGAGCACTTGT	0.473000													9	21					0	0	0.058154	0	0
TLR4	7099	broad.mit.edu	37	9	120470933	120470933	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:120470933C>T	ENST00000355622.6	+	2	287	c.186C>T	c.(184-186)agC>agT	p.S62S	TLR4_ENST00000394487.4_Silent_p.S22S|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	62					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGACCTGAGCTTTAATCCCC	0.443000													16	121					0	0	0.160694	0	0
RERGL	79785	broad.mit.edu	37	12	18234236	18234236	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:18234236G>A	ENST00000229002.2	-	6	713	c.507C>T	c.(505-507)atC>atT	p.I169I	RERGL_ENST00000538724.1_Silent_p.I168I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	169	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I169M(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGATGTCCTTGATAATTCTGA	0.408000													21	61					0	0	0.055883	0	0
OR6C3	254786	broad.mit.edu	37	12	55726162	55726162	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:55726162G>T	ENST00000379667.1	+	1	678	c.678G>T	c.(676-678)ccG>ccT	p.P226P		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAGAATCCCGTCTGCCAGTC	0.348000													41	67					1.22674e-20	1.69449e-20	0.104719	1	0
GPR119	139760	broad.mit.edu	37	X	129518602	129518602	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:129518602G>C	ENST00000276218.2	-	1	909	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	274						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGTGGGTTGAGCAGGGAGTTG	0.567000													31	64					0	0	0.153744	0	0
MYH6	4624	broad.mit.edu	37	14	23855572	23855572	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:23855572C>T	ENST00000405093.3	-	33	4981	c.4911G>A	c.(4909-4911)atG>atA	p.M1637I	MYH6_ENST00000356287.3_Missense_Mutation_p.M1637I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1637					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCGGCAGCCATGCGGTTGG	0.607000													8	79					0	0	0.105934	0	0
SPACA7	122258	broad.mit.edu	37	13	113086837	113086837	+	Splice_Site	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:113086837T>A	ENST00000375699.3	+	5	602		c.e5+2		SPACA7_ENST00000283550.3_Splice_Site			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7							extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GATCTTCAGGTAGATTGGAAA	0.413000													10	16					0	0	0.093190	0	0
OR5D18	219438	broad.mit.edu	37	11	55587247	55587247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:55587247G>T	ENST00000333976.4	+	1	162	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGGGTTGATTGTGATCATCAA	0.458000													27	91					1.5548e-18	2.10226e-18	0.108266	1	0
CDH19	28513	broad.mit.edu	37	18	64235938	64235938	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:64235938C>G	ENST00000262150.2	-	3	497	c.205G>C	c.(205-207)Gat>Cat	p.D69H	CDH19_ENST00000540086.1_Missense_Mutation_p.D69H	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	69	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGTCTAAATCAGATCTTAGC	0.333000													13	45					0	0	0.132662	0	0
KRBA1	84626	broad.mit.edu	37	7	149426299	149426299	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:149426299G>A	ENST00000255992.10	+	13	2047	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	550										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCCTGCGAGTCAGCCGT	0.632000													4	25					0	0	0.150653	0	0
TMEM116	89894	broad.mit.edu	37	12	112374541	112374541	+	Silent	SNP	G	G	A	rs143338734		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:112374541G>A	ENST00000354825.3	-	10	922	c.267C>T	c.(265-267)atC>atT	p.I89I	TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Silent_p.I89I|TMEM116_ENST00000437003.2_Silent_p.I89I|TMEM116_ENST00000355445.3_Silent_p.I146I|TMEM116_ENST00000552374.2_Silent_p.I181I			Q8NCL8	TM116_HUMAN	transmembrane protein 116	89						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GGAAAATGGCGATACCATAAA	0.473000													20	59					0	0	0.049695	0	0
PRDM9	56979	broad.mit.edu	37	5	23510090	23510090	+	Silent	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:23510090G>T	ENST00000296682.3	+	4	437	c.255G>T	c.(253-255)gtG>gtT	p.V85V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	85	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACTCCAGGTGGATGACACAG	0.423000										HNSCC(3;0.000094)			15	35					0.000566183	0.000587606	0.160694	1	0
OSR2	116039	broad.mit.edu	37	8	99961349	99961349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:99961349G>T	ENST00000297565.4	+	2	665	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	OSR2_ENST00000522510.1_Missense_Mutation_p.G57W|OSR2_ENST00000457907.2_Missense_Mutation_p.G178W|OSR2_ENST00000435298.2_Missense_Mutation_p.G57W|OSR2_ENST00000523368.1_Missense_Mutation_p.G57W	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CTGGACGCTGGGGTATCCCAA	0.667000													20	58					1.01871e-10	1.24979e-10	0.049695	1	0
TGM5	9333	broad.mit.edu	37	15	43552359	43552359	+	Silent	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:43552359C>G	ENST00000220420.5	-	3	334	c.327G>C	c.(325-327)acG>acC	p.T109T	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	109			T -> M.		epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCACGGCCGCCGTGGGAGGAG	0.612000													10	100					0	0	0.080935	0	0
IGKJ2	28949	broad.mit.edu	37	2	89161063	89161063	+	RNA	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:89161063C>T	ENST00000452230.1	-	0	12				IGKJ2_ENST00000390241.2_RNA|AC096579.7_ENST00000430694.1_RNA																							GGTCCCCTGGCCAAAAGTGTA	0.408000													32	83					0	0	0.183431	0	0
HK2	3099	broad.mit.edu	37	2	75107439	75107439	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:75107439G>T	ENST00000290573.2	+	10	1913	c.1313G>T	c.(1312-1314)tGc>tTc	p.C438F	HK2_ENST00000409174.1_Missense_Mutation_p.C410F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	438	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGCCCGGCTGCGATGTCCGC	0.627000													77	242					1.04643e-32	1.53369e-32	0.139131	1	0
MECOM	2122	broad.mit.edu	37	3	169099256	169099256	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:169099256C>A	ENST00000494292.1	-	2	191	c.94G>T	c.(94-96)Gca>Tca	p.A32S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	32							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCATCTGCATCTGGCATT	0.428000													5	64					1.23904e-05	1.34404e-05	0.014758	1	0
IMPG1	3617	broad.mit.edu	37	6	76660760	76660760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:76660760G>A	ENST00000369950.3	-	13	1532	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	448					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGAAAGGTGGAGCTTCTGA	0.473000													14	49					0	0	0.146539	0	0
BIRC6	57448	broad.mit.edu	37	2	32613839	32613839	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:32613839C>T	ENST00000421745.2	+	4	801	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	223					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACATTTCATCTTCCTCATCA	0.368000													14	41					0	0	0.146539	0	0
KLHL34	257240	broad.mit.edu	37	X	21674708	21674708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:21674708G>T	ENST00000379499.2	-	1	1740	c.1199C>A	c.(1198-1200)cCg>cAg	p.P400Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	400										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGAAGCGCGGGTCGTAACG	0.706000													5	14					0.000602214	0.000623316	0.014758	1	0
GPR143	4935	broad.mit.edu	37	X	9707605	9707605	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:9707605G>T	ENST00000467482.1	-	8	1186	c.1040C>A	c.(1039-1041)cCc>cAc	p.P347H	GPR143_ENST00000487206.1_5'UTR|GPR143_ENST00000380929.2_Missense_Mutation_p.P367H			P51810	GP143_HUMAN	G protein-coupled receptor 143	347					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GTTTTCATGGGGCATCAGTGG	0.582000													9	18					0.000673444	0.000695168	0.069234	1	0
DMBT1	1755	broad.mit.edu	37	10	124336232	124336232	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:124336232T>A	ENST00000368909.3	+	7	707	c.601T>A	c.(601-603)Tgc>Agc	p.C201S	DMBT1_ENST00000368956.2_Missense_Mutation_p.C201S|DMBT1_ENST00000330163.4_Missense_Mutation_p.C201S|DMBT1_ENST00000338354.3_Missense_Mutation_p.C201S|DMBT1_ENST00000368955.3_Missense_Mutation_p.C201S|DMBT1_ENST00000344338.3_Missense_Mutation_p.C201S|DMBT1_ENST00000359586.6_Missense_Mutation_p.C201S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	201	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTGTTATCTGCTCAGGTAG	0.552000													21	31					0	0	0.062417	0	0
SPACA7	122258	broad.mit.edu	37	13	113086835	113086835	+	Splice_Site	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:113086835G>A	ENST00000375699.3	+	5	602	c.430_splice	c.e5+1	p.G144_splice	SPACA7_ENST00000283550.3_Splice_Site_p.G175_splice			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	175						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AAGATCTTCAGGTAGATTGGA	0.408000													11	16					0	0	0.105934	0	0
SGK2	10110	broad.mit.edu	37	20	42195737	42195737	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr20:42195737G>A	ENST00000373100.1	+	4	526	c.66G>A	c.(64-66)ctG>ctA	p.L22L	SGK2_ENST00000341458.4_Silent_p.L82L|SGK2_ENST00000426287.1_Silent_p.L48L|SGK2_ENST00000423407.3_Silent_p.L22L|SGK2_ENST00000373092.3_Silent_p.L22L|SGK2_ENST00000373077.1_Silent_p.L22L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	82					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACATCAACCTGGGGCCTTCAG	0.537000													9	21					0	0	0.069234	0	0
ETNPPL	64850	broad.mit.edu	37	4	109681049	109681049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:109681049G>T	ENST00000296486.3	-	3	345	c.191C>A	c.(190-192)cCa>cAa	p.P64Q	ETNPPL_ENST00000510706.1_Missense_Mutation_p.P24Q|ETNPPL_ENST00000512646.1_Missense_Mutation_p.P6Q|ETNPPL_ENST00000411864.2_Intron	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		GACCACTCCTGGGTGACAGTG	0.413000													10	19					9.05144e-12	1.13217e-11	0.105934	1	0
PNPT1	87178	broad.mit.edu	37	2	55894127	55894127	+	Splice_Site	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:55894127T>A	ENST00000447944.2	-	13	1261	c.1176_splice	c.e13+1	p.Q392_splice		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	392					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.Q392L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAAATTACCTGTGTTTGTCC	0.318000													11	24					0	0	0.069234	0	0
NDP	4693	broad.mit.edu	37	X	43817843	43817843	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:43817843C>T	ENST00000378062.5	-	2	456	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	17					canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						CCCATTATCACCAGCAGGGAG	0.458000													18	24					0	0	0.175082	0	0
CDH15	1013	broad.mit.edu	37	16	89251624	89251624	+	Silent	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:89251624C>A	ENST00000289746.2	+	5	611	c.546C>A	c.(544-546)ccC>ccA	p.P182P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	182	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCGACGACCCCGAGACGGACA	0.662000													3	9					0.115264	0.116785	0.115264	1	0
DPPA4	55211	broad.mit.edu	37	3	109050598	109050598	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:109050598C>A	ENST00000335658.6	-	4	427	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	125						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTTGGGTAGGCAAAGGCACAC	0.403000													15	132					5.3912e-06	5.91492e-06	0.175082	1	0
SSFA2	6744	broad.mit.edu	37	2	182784173	182784173	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:182784173G>T	ENST00000431877.2	+	14	3323	c.3144_splice	c.e14+1	p.M1048_splice	SSFA2_ENST00000320370.7_Splice_Site_p.M1048_splice|SSFA2_ENST00000428267.2_Splice_Site_p.M895_splice|SSFA2_ENST00000409136.1_Splice_Site_p.M557_splice|SSFA2_ENST00000409001.1_Splice_Site_p.M1048_splice|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1048						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCACTCATGGTACGCTACC	0.507000													56	114					1.13205e-32	1.65287e-32	0.139131	1	0
THSD7B	80731	broad.mit.edu	37	2	137852677	137852677	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:137852677G>A	ENST00000409968.1	+	4	1363	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	THSD7B_ENST00000413152.2_Silent_p.L364L|THSD7B_ENST00000272643.3_Silent_p.L395L|THSD7B_ENST00000543459.1_Silent_p.L254L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAACTTCTGCAGCAATGTC	0.453000													26	16					0	0	0.125774	0	0
MTMR7	9108	broad.mit.edu	37	8	17159737	17159737	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:17159737A>T	ENST00000180173.5	-	13	1580	c.1546T>A	c.(1546-1548)Tca>Aca	p.S516T	MTMR7_ENST00000521857.1_Missense_Mutation_p.S516T|MTMR7_ENST00000398099.3_Missense_Mutation_p.S107T	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	516							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTGTAACTGACTGTCGGGGC	0.453000													43	97					0	0	0.111260	0	0
FOXA1	3169	broad.mit.edu	37	14	38061468	38061468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:38061468G>A	ENST00000250448.2	-	2	582	c.521C>T	c.(520-522)tCg>tTg	p.S174L	FOXA1_ENST00000540786.1_Missense_Mutation_p.S141L|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	174					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGAGATGTACGAGTAGGGCGG	0.652000													27	166					0	0	0.125774	0	0
THSD7A	221981	broad.mit.edu	37	7	11676343	11676343	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:11676343A>T	ENST00000423059.3	-	2	687	c.436T>A	c.(436-438)Tgc>Agc	p.C146S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	146						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTTAATGCACTCAAGAGGT	0.473000										HNSCC(18;0.044)			15	44					0	0	0.146539	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640640	99640640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:99640640C>T	ENST00000547776.2	-	13	1758	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	ANKS1B_ENST00000329257.7_Missense_Mutation_p.D587N|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D167N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	587						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.D587Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGGAGAGGTCATCTGCAAAA	0.473000													40	113					0	0	0.098360	0	0
DIP2A	23181	broad.mit.edu	37	21	47985689	47985689	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:47985689C>T	ENST00000318711.7	+	36	4414	c.4231C>T	c.(4231-4233)Cat>Tat	p.H1411Y	DIP2A_ENST00000400274.1_Missense_Mutation_p.H1406Y|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.H1410Y	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1410					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAGGCGCTTCATGCCGACCA	0.582000													10	54					0	0	0.058154	0	0
WEE1	7465	broad.mit.edu	37	11	9598747	9598747	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:9598747G>T	ENST00000299613.6	+	5	1191	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F	WEE1_ENST00000450114.2_Missense_Mutation_p.V360F	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	360					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCTCATGTAGTTCGATATTT	0.358000													35	61					5.8336e-16	7.69795e-16	0.183431	1	0
PDGFRB	5159	broad.mit.edu	37	5	149497184	149497184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149497184G>T	ENST00000261799.4	-	22	3603	c.3134C>A	c.(3133-3135)gCc>gAc	p.A1045D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1045					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTACCTGGCTAGGCTGGG	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								21	20					2.21704e-12	2.79128e-12	0.076483	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928013	92928013	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:92928013C>T	ENST00000373079.3	-	1	554	c.291G>A	c.(289-291)gtG>gtA	p.V97V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	97					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCAGCCTATCCACGAAATTTG	0.517000													13	26					0	0	0.093190	0	0
LOC440040	440040	broad.mit.edu	37	11	49598445	49598445	+	RNA	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:49598445C>G	ENST00000527477.1	+	0	1049																											ATGTATCAGCCGTACACACAG	0.413000													13	18					0	0	0.146539	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254265	30254265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A	MAGEB3_ENST00000378986.1_Missense_Mutation_p.V75A	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458000													12	20					0	0	0.080935	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755899	49755899	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:49755899C>T	ENST00000535833.1	-	10	4450	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.D334N|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	334	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCTGCCGTCGGCCAGCACC	0.667000													8	31					0	0	0.047766	0	0
POTEC	388468	broad.mit.edu	37	18	14542858	14542858	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:14542858G>C	ENST00000358970.5	-	1	287	c.288C>G	c.(286-288)agC>agG	p.S96R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	96										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCCCATCTTGCTCCTGAGCG	0.612000													9	206					0	0	0.160694	0	0
BAGE2	85319	broad.mit.edu	37	21	11039248	11039248	+	RNA	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr21:11039248C>G	ENST00000470054.1	-	0	955									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTAGGTTCCTCTAACAACT	0.418000													9	350					0	0	0.069234	0	0
GLB1L3	112937	broad.mit.edu	37	11	134177072	134177072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:134177072G>A	ENST00000431683.2	+	10	931	c.931G>A	c.(931-933)Gga>Aga	p.G311R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	311					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CGACAGATGGGGAGATAAGCA	0.433000													12	13					0	0	0.119110	0	0
ZNF626	199777	broad.mit.edu	37	19	20808036	20808036	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:20808036A>T	ENST00000601440.1	-	4	793	c.647T>A	c.(646-648)cTt>cAt	p.L216H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATGTCTAGTAAGGCTACAAGA	0.388000													31	35					0	0	0.069456	0	0
MAP2	4133	broad.mit.edu	37	2	210574637	210574637	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:210574637G>T	ENST00000360351.4	+	12	5238		c.e12-1		MAP2_ENST00000361559.4_Splice_Site|MAP2_ENST00000392194.1_Splice_Site|MAP2_ENST00000447185.1_Splice_Site|MAP2_ENST00000199940.6_Splice_Site|MAP2_ENST00000475600.1_Splice_Site	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGTTAATACAGGGTCAGAGCC	0.458000													13	21					2.27111e-07	2.56502e-07	0.093190	1	0
DMD	1756	broad.mit.edu	37	X	31165577	31165577	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:31165577G>T	ENST00000357033.4	-	75	10818	c.10612C>A	c.(10612-10614)Cca>Aca	p.P3538T	DMD_ENST00000378707.3_Missense_Mutation_p.P1078T|DMD_ENST00000343523.2_Missense_Mutation_p.P968T|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000361471.4_Missense_Mutation_p.P457T|DMD_ENST00000359836.1_Missense_Mutation_p.P1065T|DMD_ENST00000474231.1_Missense_Mutation_p.P1078T|DMD_ENST00000378723.3_Missense_Mutation_p.P470T|DMD_ENST00000378677.2_Missense_Mutation_p.P3534T|DMD_ENST00000378702.4_Missense_Mutation_p.P470T|DMD_ENST00000378680.2_Missense_Mutation_p.P360T|DMD_ENST00000541735.1_Missense_Mutation_p.P968T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACGGCAGTGGGGACAGGCCT	0.493000													11	28					4.68919e-08	5.37507e-08	0.069234	1	0
PEX1	5189	broad.mit.edu	37	7	92147348	92147348	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr7:92147348T>C	ENST00000248633.4	-	5	576	c.481A>G	c.(481-483)Ata>Gta	p.I161V	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I161V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	161					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCAGCTGGTATTAGTGCAACT	0.393000													14	33					0	0	0.119110	0	0
LHX8	431707	broad.mit.edu	37	1	75622595	75622595	+	Silent	SNP	T	T	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:75622595T>C	ENST00000294638.5	+	9	1492	c.828T>C	c.(826-828)tgT>tgC	p.C276C	LHX8_ENST00000356261.3_Silent_p.C266C	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTCAGAATTGTAGAGCACGCC	0.473000													42	43					0	0	0.139131	0	0
PHKA2	5256	broad.mit.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:18911701C>A	ENST00000379942.4	-	33	4275	c.3610G>T	c.(3610-3612)Gct>Tct	p.A1204S	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522000													59	164					3.39796e-24	4.85062e-24	0.139131	1	0
MGMT	4255	broad.mit.edu	37	10	131565234	131565234	+	Silent	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:131565234G>A	ENST00000306010.7	+	5	722	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	230										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GAGCTACCTCGGGCTCCCCGC	0.632000								Direct reversal of damage					15	17					0	0	0.043863	0	0
SV2B	9899	broad.mit.edu	37	15	91835755	91835755	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:91835755A>G	ENST00000394232.1	+	13	2495	c.2025A>G	c.(2023-2025)ccA>ccG	p.P675P	SV2B_ENST00000330276.4_Silent_p.P675P|SV2B_ENST00000545111.2_Silent_p.P524P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	675					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCGACTGCCAGAGACTCGAG	0.507000													8	60					0	0	0.047766	0	0
SYNE1	23345	broad.mit.edu	37	6	152658020	152658020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:152658020C>T	ENST00000367255.5	-	76	13085	c.12484G>A	c.(12484-12486)Gag>Aag	p.E4162K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E4162K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4091K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4027K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4091K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4162					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGCTCAGAGTGCCTC	0.473000										HNSCC(10;0.0054)			22	104					0	0	0.076483	0	0
C3	718	broad.mit.edu	37	19	6693060	6693060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:6693060C>G	ENST00000245907.6	-	26	3357	c.3265G>C	c.(3265-3267)Gct>Cct	p.A1089P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1089					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGGTTGACAGCCAGAGAGAAG	0.587000													28	177					0	0	0.116897	0	0
DOCK9	23348	broad.mit.edu	37	13	99449735	99449735	+	Silent	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr13:99449735A>G	ENST00000376460.1	-	54	6047	c.5967T>C	c.(5965-5967)gcT>gcC	p.A1989A	DOCK9_ENST00000339416.2_Silent_p.A1976A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1990	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGTGGGCCAGCATTGACCT	0.423000													7	8					0	0	0.029380	0	0
SLC22A1	6580	broad.mit.edu	37	6	160543205	160543205	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:160543205G>T	ENST00000366963.4	+	1	385	c.238G>T	c.(238-240)Gcg>Tcg	p.A80S	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80S|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80S	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	80						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTGGGGCCCGCGGGCGAGGC	0.662000													24	83					2.21704e-12	2.79128e-12	0.076483	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:140719024A>T	ENST00000394576.2	+	1	486	c.486A>T	c.(484-486)gtA>gtT	p.V162V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522000													30	33					0	0	0.134883	0	0
PRR23B	389151	broad.mit.edu	37	3	138739052	138739052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:138739052T>A	ENST00000329447.5	-	1	716	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	151										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCTCTTCCTGGGCGGCGAT	0.652000													19	110					0	0	0.049695	0	0
GLI2	2736	broad.mit.edu	37	2	121728127	121728127	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:121728127A>G	ENST00000452319.1	+	7	1064	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GLI2_ENST00000314490.11_Missense_Mutation_p.N7S|GLI2_ENST00000361492.4_Missense_Mutation_p.N335S|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	335					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACCTCCATCAATGCCACGCCC	0.637000													19	70					0	0	0.049695	0	0
COL4A5	1287	broad.mit.edu	37	X	107802347	107802347	+	Silent	SNP	A	A	C			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:107802347A>C	ENST00000328300.6	+	3	439	c.195A>C	c.(193-195)ccA>ccC	p.P65P	COL4A5_ENST00000361603.2_Silent_p.P65P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	65	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTGGATTTCCAGGTCCAGAAG	0.463000									Alport syndrome with Diffuse Leiomyomatosis				21	89					0	0	0.076483	0	0
COL6A6	131873	broad.mit.edu	37	3	130327809	130327809	+	Splice_Site	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:130327809G>T	ENST00000358511.6	+	21	4783		c.e21+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCCCTCAGGTACATATCAA	0.463000													9	50					1.12685e-05	1.22929e-05	0.047766	1	0
FGF6	2251	broad.mit.edu	37	12	4554546	4554546	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:4554546C>A	ENST00000228837.2	-	1	234	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	64					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCAGCTAGCCCGGCGCGAGA	0.647000													21	79					1.77063e-15	2.3285e-15	0.108266	1	0
EYA4	2070	broad.mit.edu	37	6	133846378	133846378	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133846378C>A	ENST00000367895.5	+	19	2289	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.Q615K|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000355286.6_Missense_Mutation_p.Q586K|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	609					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAAGAAGAACAGGCAGCAAA	0.393000													18	34					4.35082e-09	5.12489e-09	0.055883	1	0
ARSI	340075	broad.mit.edu	37	5	149677228	149677228	+	Missense_Mutation	SNP	C	C	T	rs147847092		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr5:149677228C>T	ENST00000328668.7	-	2	1838	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	420						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACCCACGCGGATGGCAGC	0.622000													15	45					0	0	0.160694	0	0
NARS	4677	broad.mit.edu	37	18	55274528	55274528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr18:55274528C>T	ENST00000256854.5	-	9	1294	c.839G>A	c.(838-840)gGt>gAt	p.G280D	NARS_ENST00000423481.2_Missense_Mutation_p.G31D	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	280					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TGTGGCACCACCTTCTACTTG	0.438000													28	58					0	0	0.134883	0	0
ZNF667	63934	broad.mit.edu	37	19	56953604	56953604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:56953604G>A	ENST00000504904.3	-	7	1479	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Nonsense_Mutation_p.Q382*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.Q254*			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTCTGCACTGGCAGACATTC	0.358000													23	118					0	0	0.108266	0	0
CNOT1	23019	broad.mit.edu	37	16	58608535	58608535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr16:58608535C>A	ENST00000317147.5	-	16	2289	c.1957G>T	c.(1957-1959)Gcc>Tcc	p.A653S	CNOT1_ENST00000441024.2_Missense_Mutation_p.A653S|CNOT1_ENST00000569240.1_Missense_Mutation_p.A653S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	653					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCAGACAGGCCAACATTGTC	0.418000													23	64					6.36457e-07	7.12535e-07	0.091800	1	0
HR	55806	broad.mit.edu	37	8	21973246	21973246	+	Silent	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr8:21973246C>T	ENST00000381418.4	-	19	5017	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	HR_ENST00000312841.8_Silent_p.K1124K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1179							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCACGGCCACCTTCACTGCTT	0.562000													7	30					0	0	0.029380	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246836	89246836	+	RNA	SNP	G	G	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:89246836G>T	ENST00000496168.1	-	0	514																											CTATTATACTGTTGGCAGTAA	0.522000													20	70					3.8784e-16	5.13554e-16	0.062417	1	0
SYNE2	23224	broad.mit.edu	37	14	64630217	64630217	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:64630217T>A	ENST00000357395.3	+	90	16696	c.5552T>A	c.(5551-5553)aTg>aAg	p.M1851K	SYNE2_ENST00000555002.1_Missense_Mutation_p.M2100K|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1851K|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5383K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5466K|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5466K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5466					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCACCCACATGCTCCTCCCG	0.502000													15	51					0	0	0.160694	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646688	122646688	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:122646688C>T	ENST00000195173.4	-	8	1102	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G267S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G321S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	267	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCACTGCCCAGGCTGCGG	0.617000													51	45					0	0	0.139131	0	0
OR2M2	391194	broad.mit.edu	37	1	248343753	248343753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr1:248343753delG	ENST00000359682.2	+	1	466	c.466delG	c.(466-468)gafs	p.G156fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTACAGATGGAATCATTGA	0.433													87	268	---	---	---	---					
MFSD9	84804	broad.mit.edu	37	2	103335456	103335457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr2:103335456_103335457insA	ENST00000258436.5	-	6	890_891	c.847_848insT	c.(847-849)cgafs	p.R283fs		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	283					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCACATTTCGGAAAACAGCAGG	0.574													20	77	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	3080618	3080618	+	Splice_Site	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:3080618delC	ENST00000397461.1	+	18	2478	c.2092_splice	c.e18-1	p.L698_splice	CNTN4_ENST00000418658.1_Splice_Site_p.L698_splice|CNTN4_ENST00000448906.2_Splice_Site_p.L370_splice|CNTN4_ENST00000358480.3_Splice_Site_p.L479_splice|CNTN4_ENST00000397459.2_Splice_Site_p.L370_splice|CNTN4_ENST00000427331.1_Splice_Site_p.L698_splice	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	698					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTGTGCAGTCCCCGAAGTCA	0.498													12	29	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167742786	167742786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:167742786delG	ENST00000470487.1	-	13	2410	c.1721delC	c.(1720-1722)cafs	p.P574fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.P546fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	574	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTTTCATCTGGCAAATTTTC	0.418													110	111	---	---	---	---					
ATP13A4	84239	broad.mit.edu	37	3	193153532	193153532	+	Splice_Site	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr3:193153532delC	ENST00000342695.4	-	24	2996	c.2672_splice	c.e24-1	p.E892_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.E873_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	892					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403													26	112	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114278600	114278601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:114278600_114278601insA	ENST00000357077.4	+	38	8879_8880	c.8826_8827insA	c.(8824-8829)agaaacfs	p.N2943fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.N2910fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2910					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGAAGAAAGCAAAACCCAAAC	0.416													77	110	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													5	4	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	70042897	70042897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:70042897delC	ENST00000370598.1	+	24	4006	c.3185delC	c.(3184-3186)gcfs	p.A1062fs	BAI3_ENST00000238918.8_Frame_Shift_Del_p.A268fs|BAI3_ENST00000546190.1_Frame_Shift_Del_p.A26fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1062					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAACACAGAGCCGGGTAAGCT	0.388													16	28	---	---	---	---					
VNN1	8876	broad.mit.edu	37	6	133015242	133015242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:133015242delC	ENST00000367928.4	-	3	434	c.421delG	c.(421-423)acfs	p.D141fs		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	141	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTTCTTGTCCCCAATATTT	0.468													35	78	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(187-192)caagca>caCAGagca	p.63_63Q>HR	TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	63	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													14	42	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)tac>t	p.FY357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			21	20	---	---	---	---					
HPSE2	60495	broad.mit.edu	37	10	100481543	100481543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr10:100481543delC	ENST00000370552.3	-	5	886	c.827delG	c.(826-828)gcfs	p.G276fs	HPSE2_ENST00000404542.1_Frame_Shift_Del_p.G164fs|HPSE2_ENST00000370546.1_Frame_Shift_Del_p.G276fs|HPSE2_ENST00000370549.1_Frame_Shift_Del_p.G218fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	276					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CAACTGGCTGCCATTTACTGC	0.483													24	32	---	---	---	---					
OR8U1	219417	broad.mit.edu	37	11	56143856	56143856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr11:56143856delG	ENST00000302270.1	+	1	757	c.757delG	c.(757-759)ggfs	p.G253fs		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CATATTCTATGGGACCCTCAT	0.483													44	77	---	---	---	---					
SLC2A13	114134	broad.mit.edu	37	12	40223995	40223995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:40223995delC	ENST00000280871.4	-	7	1405	c.1355delG	c.(1354-1356)gtfs	p.G452fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	452						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTAGCAGAAACCGCAGTCTGG	0.418										HNSCC(50;0.14)			11	56	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49444035	49444045	+	Frame_Shift_Del	DEL	CAGGGCTGGGG	CAGGGCTGGGG	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr12:49444035_49444045delCAGGGCTGGGG	ENST00000301067.7	-	11	3325_3335	c.3326_3336delCCCCAGCCCTG	c.(3325-3336)gfs	p.APAL1109fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.P1110L(1)|p.P837L(1)									AGAAGTCATCCAGGGCTGGGGCAGGGCTGGG	0.616													8	15	---	---	---	---					
IGHV2-26	28455	broad.mit.edu	37	14	106757939	106757939	+	RNA	DEL	A	A	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr14:106757939delA	ENST00000390611.2	-	0	91																											AGACTCCTTCAAGGTGACCTG	0.532													14	38	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													4	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579494	7579495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:7579494_7579495insG	ENST00000420246.2	-	4	324_325	c.192_193insC	c.(190-195)ccgaatfs	p.N65fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N65fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N65fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N65fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R65*(11)|p.0?(8)|p.R65fs*84(3)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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)		TCTGGCATTCTGGGAGCTTCAT	0.614		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)			150	119	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780380	39780381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr17:39780380_39780381insG	ENST00000311208.8	-	1	448_449	c.381_382insC	c.(379-384)cccccgfs	p.PP127fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TAGTCACGGGCGGGCCCCGGGG	0.644													14	207	---	---	---	---					
HNRNPM	4670	broad.mit.edu	37	19	8551028	8551029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:8551028_8551029insG	ENST00000348943.3	+	15	1831_1832	c.1599_1600insG	c.(1597-1602)ggccaafs	p.Q534fs	HNRNPM_ENST00000325495.4_Frame_Shift_Ins_p.Q573fs	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	573	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCGCATGGGCGCCAACAGCCT	0.713													35	130	---	---	---	---					
ZNF808	388558	broad.mit.edu	37	19	53056767	53056767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:53056767delC	ENST00000359798.4	+	5	778	c.598delC	c.(598-600)ccfs	p.P200fs		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCTGTAGGCCCCAAATCCA	0.378													105	148	---	---	---	---					
MIR527	574497	broad.mit.edu	37	19	54257292	54257292	+	RNA	DEL	G	G	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chr19:54257292delG	ENST00000385244.1	+	0	21					NR_030219.1																						TGACTGCAAAGGGAAGCCCTT	0.413													61	224	---	---	---	---					
TSPYL2	64061	broad.mit.edu	37	X	53114157	53114157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6021-01A-11D-1683-08	TCGA-CN-6021-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e62a2c4d-18e3-4ec8-8d93-40e055e65be4	ed345984-cb10-45e5-8684-460ae7e7e84b	g.chrX:53114157delC	ENST00000375442.4	+	4	1151	c.1019delC	c.(1018-1020)acfs	p.T340fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	340					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TCTCACTCAACCCCAATCCGC	0.577													48	91	---	---	---	---					
