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
MPHOSPH9	10198	broad.mit.edu	37	12	123687267	123687267	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:123687267G>A	ENST00000606320.1	-	10	1891	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S410L|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S532L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S410L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	410					M phase of mitotic cell cycle	centriole|Golgi membrane		p.S410L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GACTGAGGCCGAAGCAACCAT	0.438000													4	79					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169899	32169899	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169899C>T	ENST00000375023.3	-	21	3847	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1237					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AACAGACACTCTTCAGAGTCA	0.622000													17	103					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101721054	101721054	+	Silent	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:101721054C>A	ENST00000251127.6	-	38	4404	c.4323G>T	c.(4321-4323)ctG>ctT	p.L1441L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1441						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTACAAGCAGATTTAGCA	0.333000													6	29					0.00116845	0.00118588	1	1	0
LPCAT4	254531	broad.mit.edu	37	15	34656470	34656470	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:34656470C>T	ENST00000314891.6	-	4	693	c.516G>A	c.(514-516)cgG>cgA	p.R172R		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	172					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCGGGTCATGCCGGGATACCA	0.582000													4	184					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73047994	73047994	+	Splice_Site	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:73047994A>T	ENST00000311669.8	-	6	935	c.840_splice	c.e6-1	p.V281_splice	ADPGK_ENST00000567733.1_5'UTR|ADPGK_ENST00000456471.2_Splice_Site_p.V7_splice	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	281	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGAGGTTACAACCTGCAAAGA	0.463000													7	64					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413904	105413904	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:105413904C>T	ENST00000333244.5	-	7	8003	c.7884G>A	c.(7882-7884)gcG>gcA	p.A2628A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2628						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCAGCCGCGCACCATCCA	0.592000													5	447					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162045	239162045	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239162045G>A	ENST00000254657.3	-	19	2898	c.2619C>T	c.(2617-2619)caC>caT	p.H873H	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	873	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAGCTGGCGTGGGGAGGTG	0.662000													15	50					0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622000													4	135					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636928	120636928	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:120636928G>A	ENST00000551150.1	-	3	626	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RPLP0_ENST00000546989.1_Missense_Mutation_p.A104V|RPLP0_ENST00000392514.4_Missense_Mutation_p.A104V|RPLP0_ENST00000313104.5_Missense_Mutation_p.A104V|RPLP0_ENST00000228306.4_Missense_Mutation_p.A104V|RPLP0_ENST00000550296.1_5'UTR			P05388	RLA0_HUMAN	ribosomal protein, large, P0	104					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCTTATTGGCCAGCAACAT	0.478000													10	38					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210594683	210594683	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:210594683C>T	ENST00000360351.4	+	14	5771	c.5265C>T	c.(5263-5265)gtC>gtT	p.V1755V	MAP2_ENST00000392194.1_Silent_p.V399V|MAP2_ENST00000361559.4_Silent_p.V399V|MAP2_ENST00000447185.1_Silent_p.V1751V|MAP2_ENST00000199940.6_Silent_p.V487V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1755					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)	GTGGTAATGTCAAGGTAAGAA	0.358000													11	59					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44457953	44457953	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:44457953G>C	ENST00000372318.3	+	3	367	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	66										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCCATCTCTGACCCCTCTTC	0.617000													18	135					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600021	3600021	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:3600021G>A	ENST00000375190.4	-	2	1005	c.612C>T	c.(610-612)ggC>ggT	p.G204G	TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Silent_p.G204G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	204					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGAGAGGCCGCCCAGCATGG	0.701000													8	48					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467698	35467698	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:35467698G>A	ENST00000237536.4	-	2	1175	c.834C>T	c.(832-834)gcC>gcT	p.A278A	SOGA1_ENST00000357779.3_Silent_p.A40A|SOGA1_ENST00000279034.5_Silent_p.A40A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	40										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGCGGCGCTCGGCTTTGCGCA	0.657000													4	122					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169900	32169900	+	Silent	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:32169900T>C	ENST00000375023.3	-	21	3846	c.3708A>G	c.(3706-3708)gaA>gaG	p.E1236E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1236					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGACACTCTTCAGAGTCAC	0.627000													17	104					0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18392258	18392258	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:18392258C>T	ENST00000328114.6	+	5	529	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.P62S|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	150							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TTAACAGAATCCCCGCGCAGT	0.592000													8	56					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137542373	137542373	+	Splice_Site	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:137542373C>T	ENST00000394886.2	-	3	265	c.234_splice	c.e3-1	p.E79_splice	CDC23_ENST00000394884.3_Splice_Site_p.E79_splice|CDC23_ENST00000505120.1_Intron	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGCATCTTCCTAAAAAAGA	0.388000													7	60					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847088	47847088	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:47847088C>T	ENST00000339488.4	-	3	1525	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	498						integral to membrane	hedgehog receptor activity										CTTGGCGAATCACTGGCTAGT	0.453000													10	31					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54666452	54666452	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54666452G>C	ENST00000376591.4	-	10	1605	c.1474C>G	c.(1474-1476)Ctg>Gtg	p.L492V	TMC4_ENST00000301187.4_Missense_Mutation_p.L486V|TMC4_ENST00000416963.1_Missense_Mutation_p.L74V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	492						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTCAGCAGATCAAAGAGC	0.572000													13	45					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104397074	104397074	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:104397074G>A	ENST00000360814.4	-	5	528	c.123C>T	c.(121-123)tcC>tcT	p.S41S	GLT8D2_ENST00000546436.1_Silent_p.S41S|GLT8D2_ENST00000548660.1_Silent_p.S41S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	41						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGGAGTCTCGGATTCATCAT	0.458000													4	96					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209567	53209567	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:53209567C>T	ENST00000543227.1	-	6	1015	c.741G>A	c.(739-741)agG>agA	p.R247R	ZNF611_ENST00000595798.1_Silent_p.R178R|ZNF611_ENST00000319783.1_Silent_p.R247R|ZNF611_ENST00000602162.1_Silent_p.R178R|ZNF611_ENST00000540744.1_Silent_p.R247R|ZNF611_ENST00000453741.2_Silent_p.R178R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTGGTGTTTCCTTAAGAGTG	0.373000													31	149					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530345	187530345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187530345G>A	ENST00000441802.2	-	16	10407	c.10198C>T	c.(10198-10200)Cga>Tga	p.R3400*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3400	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGTTTCTCGGTCGAGAAGT	0.453000										HNSCC(5;0.00058)			11	21					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78332134	78332134	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:78332134G>A	ENST00000582970.1	+	37	11052	c.10909G>A	c.(10909-10911)Gcg>Acg	p.A3637T	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A1710T|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A3686T	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)			CCCTCTGCTGGCGAGCATGAT	0.562000													12	60					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	rs116818150	by1000genomes	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557000													10	108					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155167915	155167915	+	Missense_Mutation	SNP	G	G	T	rs149484793	byFrequency	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155167915G>T	ENST00000368378.3	-	18	2191	c.2171C>A	c.(2170-2172)aCg>aAg	p.T724K	THBS3_ENST00000457183.2_Missense_Mutation_p.T604K|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.T121K|THBS3_ENST00000541990.1_Missense_Mutation_p.T253K|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	724					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.T724M(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGAAAATCCGTAAGCGTTAC	0.547000													20	74					5.03518e-11	5.30841e-11	1	1	0
LY6G5C	80741	broad.mit.edu	37	6	31646965	31646965	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:31646965C>T	ENST00000375858.3	-	2	201	c.193G>A	c.(193-195)Gag>Aag	p.E65K	LY6G5C_ENST00000383237.4_Missense_Mutation_p.E68K|LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Missense_Mutation_p.E66K	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	68	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						TCCTTGGTCTCCAAGAGGCAT	0.522000													8	225					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064664	7064664	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7064664C>T	ENST00000299481.4	+	4	1753	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	469	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.D469D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGAAGGACGCAGAGTATG	0.408000													8	108					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774542	122774542	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:122774542A>G	ENST00000194130.2	-	8	893	c.854T>C	c.(853-855)tTt>tCt	p.F285S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	285						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGAAAACGTAAACCATGATCC	0.433000													5	39					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124380773	124380773	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:124380773G>C	ENST00000360013.3	+	45	6467	c.6340G>C	c.(6340-6342)Gag>Cag	p.E2114Q	KALRN_ENST00000393496.1_Missense_Mutation_p.E455Q|KALRN_ENST00000291478.4_Missense_Mutation_p.E417Q|KALRN_ENST00000428018.2_Missense_Mutation_p.E385Q|KALRN_ENST00000459915.1_Missense_Mutation_p.E206Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2113					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGGGCTTTGAGGTGAGTCT	0.502000													22	103					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149775923	149775923	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:149775923C>G	ENST00000451292.1	+	25	4079	c.3971C>G	c.(3970-3972)tCa>tGa	p.S1324*	TCOF1_ENST00000445265.2_Nonsense_Mutation_p.S1211*|TCOF1_ENST00000513346.1_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000504761.2_Nonsense_Mutation_p.S1287*|TCOF1_ENST00000323668.7_Nonsense_Mutation_p.S1210*|TCOF1_ENST00000377797.3_Nonsense_Mutation_p.S1288*|TCOF1_ENST00000439160.2_Nonsense_Mutation_p.S1250*			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1287					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAAGCCTCAACCCTGGCG	0.607000													21	94					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627000													8	18					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768924	3768924	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3768924C>T	ENST00000330055.5	+	1	800	c.591C>T	c.(589-591)gcC>gcT	p.A197A	ADRA2C_ENST00000509482.1_Silent_p.A197A	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	197					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGACGGCGCCGCCTACCCGC	0.677000													3	21					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81593596	81593596	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:81593596G>C	ENST00000356860.3	-	33	2992	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S897C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S97C	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	897						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)	ATAATCATAAGATTTGTTAAA	0.388000													13	64					0	0	1	0	0
TMEM121	80757	broad.mit.edu	37	14	105995411	105995411	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:105995411C>T	ENST00000392519.2	+	2	404	c.240C>T	c.(238-240)ttC>ttT	p.F80F	TMEM121_ENST00000431372.1_Silent_p.F80F	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	80						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		TCCTGTGGTTCCTTTACATCT	0.662000													5	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476184	179476184	+	Silent	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:179476184A>G	ENST00000589042.1	-	269	50996	c.50772T>C	c.(50770-50772)taT>taC	p.Y16924Y	TTN_ENST00000460472.2_Silent_p.Y7859Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.Y15283Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Y7984Y|TTN_ENST00000342175.6_Silent_p.Y8051Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.Y14356Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15283	Fibronectin type-III 22.						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)			CTCTCAGGACATATTCTTTGT	0.438000													17	49					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239976475	239976475	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:239976475G>A	ENST00000345617.3	-	25	3834	c.3043C>T	c.(3043-3045)Cgt>Tgt	p.R1015C	HDAC4_ENST00000543185.1_Missense_Mutation_p.R599C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1015	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCCATGGAACGGACAGCGTTT	0.507000													26	102					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88367727	88367727	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:88367727G>A	ENST00000392844.3	+	16	1730	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	ORC3_ENST00000257789.4_Missense_Mutation_p.C562Y|ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000546266.1_Missense_Mutation_p.C418Y	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	561					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTCATTGACTGTCTAGTGAGG	0.338000													16	36					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050825	81050825	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81050825C>T	ENST00000334512.5	+	10	1222	c.650C>T	c.(649-651)gCg>gTg	p.A217V	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	217					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCACAGTTTGCGGGGCAGCAG	0.637000													4	142					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878569	878569	+	Missense_Mutation	SNP	G	G	A	rs141776263		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:878569G>A	ENST00000323510.4	-	8	883	c.884C>T	c.(883-885)tCg>tTg	p.S295L	BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.S275L|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.S338L|BRD9_ENST00000467963.1_Missense_Mutation_p.S391L			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATTCTGCATCGAAAGCGCAGT	0.567000													22	181					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540437	187540437	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:187540437G>A	ENST00000441802.2	-	10	7512	c.7303C>T	c.(7303-7305)Cat>Tat	p.H2435Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2435	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAATGTTTATGATCATTGCCA	0.468000										HNSCC(5;0.00058)			27	65					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4798948	4798948	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:4798948C>T	ENST00000328914.4	+	7	1418	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P310L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	473					cell differentiation|embryo development|muscle organ 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|magnesium ion 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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCAGGCTCCCCCGTCAGCGCC	0.736000													6	31					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698221	70698221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70698221G>A	ENST00000338779.6	-	15	1877	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	535					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GAGGCTGGGCGCTTGGTCTGG	0.716000													13	33					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324225	152324225	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:152324225C>T	ENST00000388718.5	-	3	6109	c.6037G>A	c.(6037-6039)Gga>Aga	p.G2013R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2013							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.522000													111	353					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105905260	105905260	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:105905260G>C	ENST00000357060.3	-	31	4033	c.3918C>G	c.(3916-3918)ctC>ctG	p.L1306L	WDR96_ENST00000428666.1_Silent_p.L1278L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1306										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTTTGTAGAGTATATCCA	0.368000													11	15					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174254706	174254706	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:174254706G>C	ENST00000296503.5	-	2	968	c.95C>G	c.(94-96)cCg>cGg	p.P32R	HMGB2_ENST00000446922.2_Missense_Mutation_p.P32R|HMGB2_ENST00000438704.2_Missense_Mutation_p.P32R			P26583	HMGB2_HUMAN	high mobility group box 2	32					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGAAGAGTCCGGGTGTTTCTT	0.562000													18	68					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063464	170063464	+	Missense_Mutation	SNP	C	C	T	rs143262722		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:170063464C>T	ENST00000263816.3	-	39	7051	c.6766G>A	c.(6766-6768)Gat>Aat	p.D2256N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2256					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAATTATATCTAAAGAATCA	0.438000													29	123					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3105592	3105592	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:3105592C>G	ENST00000355072.5	+	4	655	c.510C>G	c.(508-510)ctC>ctG	p.L170L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	170					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTCGAGCTCTATAAGGAAA	0.323000													17	94					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285504	26285504	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:26285504T>C	ENST00000289352.1	-	1	258	c.224A>G	c.(223-225)gAg>gGg	p.E75G	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.E75G			P62805	H4_HUMAN	histone cluster 1, H4h	75					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						TTTGGCGTGCTCTGTGTAAGT	0.547000										HNSCC(76;0.23)			18	66					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366192	26366192	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:26366192G>A	ENST00000522362.2	-	3	974	c.80C>T	c.(79-81)cCg>cTg	p.P27L		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	27					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)		aaagtccgccggtatccccgt	0.512000													33	101					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58150579	58150579	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:58150579G>C	ENST00000184956.6	-	4	546	c.530C>G	c.(529-531)tCt>tGt	p.S177C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S177C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	177							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCAGGATCAGACTGAGCCAA	0.433000													16	56					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108370142	108370142	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:108370142C>G	ENST00000223528.2	+	6	814	c.690C>G	c.(688-690)ctC>ctG	p.L230L	FKTN_ENST00000357998.5_Silent_p.L230L|FKTN_ENST00000448551.2_Silent_p.L230L|FKTN_ENST00000540160.1_Silent_p.L230L|FKTN_ENST00000602661.1_Silent_p.L230L	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	230					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						TGGAAGTTCTCATTCCAAAGG	0.413000													11	63					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68040920	68040920	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:68040920T>A	ENST00000178640.5	+	19	1742	c.1115T>A	c.(1114-1116)cTg>cAg	p.L372Q	MAP2K5_ENST00000340972.4_Missense_Mutation_p.L182Q|MAP2K5_ENST00000354498.5_Missense_Mutation_p.L336Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.L362Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	372	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CTCCAGCTTCTGCAGTGCATT	0.383000													14	42					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601169	8601169	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:8601169C>T	ENST00000338257.8	-	19	2277	c.2010G>A	c.(2008-2010)ggG>ggA	p.G670G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	670	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTTGGTGCTCCCCATCTGGT	0.612000													18	89					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39086251	39086251	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:39086251C>G	ENST00000209718.3	-	4	1001	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E56Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	193	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACCTCCTGTTCTAGGTCTGTT	0.458000													20	92					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35733425	35733425	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:35733425G>A	ENST00000353704.2	+	4	816	c.378G>A	c.(376-378)gaG>gaA	p.E126E	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAGATGAGGAGAAGAGTCTAT	0.483000													113	328					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472402	2472402	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:2472402C>T	ENST00000258711.6	+	2	263	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	43					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TTCTCTAGGCCGCACACGGGG	0.642000													4	170					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839327	42839327	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:42839327C>T	ENST00000334370.4	+	4	1334	c.699C>T	c.(697-699)ggC>ggT	p.G233G	MEGF8_ENST00000251268.6_Silent_p.G233G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	233						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCAGCTGGCGCCTTCCTGT	0.657000													3	32					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72946534	72946534	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:72946534G>T	ENST00000262209.4	-	22	2841	c.2634C>A	c.(2632-2634)atC>atA	p.I878I	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	878						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGAAGGAAGATAAATACAA	0.308000													15	55					1.5739e-10	1.64654e-10	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81188376	81188376	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:81188376C>T	ENST00000394685.3	+	12	1805	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	KIAA1199_ENST00000356249.5_Silent_p.C462C|KIAA1199_ENST00000220244.3_Silent_p.C462C			Q8WUJ3	K1199_HUMAN	KIAA1199	462										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCAGATCCTGCGCCCCCAACC	0.463000													4	92					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021988	7021988	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:7021988C>A	ENST00000278314.4	-	3	1241	c.926G>T	c.(925-927)gGt>gTt	p.G309V	ZNF214_ENST00000536068.1_Missense_Mutation_p.G309V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCTCTTACCACATGCATT	0.408000													17	102					1.02788e-11	1.09213e-11	1	1	0
LHX9	56956	broad.mit.edu	37	1	197889125	197889125	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:197889125G>A	ENST00000367390.3	+	3	198	c.171G>A	c.(169-171)gaG>gaA	p.E57E	LHX9_ENST00000367391.1_Silent_p.E57E|LHX9_ENST00000561173.1_Silent_p.E72E|LHX9_ENST00000367387.4_Silent_p.E66E|LHX9_ENST00000337020.2_Silent_p.E66E	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	66					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCAGCCCGGAGAAGCCCGCCC	0.657000													48	174					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882448	149882448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:149882448C>T	ENST00000369146.3	-	4	1375	c.885G>A	c.(883-885)tgG>tgA	p.W295*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.W295*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	295					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACATGCAGAGCCAGCTCAAAT	0.547000													13	49					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964708	176964708	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:176964708C>T	ENST00000406506.2	+	1	251	c.179C>T	c.(178-180)cCc>cTc	p.P60L	HOXD12_ENST00000404162.2_Missense_Mutation_p.P60L			P35452	HXD12_HUMAN	homeobox D12	60						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCCTGCGCCCCCGCGCAGCCT	0.746000													10	42					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:31877577C>T	ENST00000396184.3	-	11	1193	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R330Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R330Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R330Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R390Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R330Q(4)|p.R390Q(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACCAAGGTTCGAAACTCCCT	0.388000													10	141					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207634815	207634815	+	Splice_Site	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:207634815G>A	ENST00000236980.6	+	3	1126	c.777_splice	c.e3-1	p.E260_splice	FASTKD2_ENST00000402774.3_Splice_Site_p.E260_splice|FASTKD2_ENST00000403094.3_Splice_Site_p.E260_splice	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	260					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ATTTCAATAGGAACGTATCAA	0.363000													7	48					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151131017	151131017	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:151131017C>G	ENST00000370325.1	-	4	494	c.441G>C	c.(439-441)gtG>gtC	p.V147V	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.V147V			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	147					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATAGCTGGCTCACCACATTGC	0.493000													27	131					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563437	75563437	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:75563437C>T	ENST00000336257.3	-	3	2240	c.846G>A	c.(844-846)ccG>ccA	p.P282P	CHST5_ENST00000541075.1_Silent_p.P288P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	282					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGAAGGGTGGCGGCTTGAGTG	0.711000													4	141					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	28					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33260843	33260843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:33260843G>A	ENST00000497454.1	-	16	2452	c.1957C>T	c.(1957-1959)Cga>Tga	p.R653*	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	653	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCTGGACTCGGATGATACGG	0.592000													6	601					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669575	234669575	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:234669575C>T	ENST00000360418.3	+	1	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L	UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.L214L			P22309	UD11_HUMAN		214					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGAACATGCTCATTGCCTTTT	0.522000													31	163					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019313	166019313	+	Silent	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:166019313C>G	ENST00000360093.3	-	8	1211	c.720G>C	c.(718-720)ctG>ctC	p.L240L	SCN3A_ENST00000409101.3_Silent_p.L240L|SCN3A_ENST00000283254.7_Silent_p.L240L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	240						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCGACTGGATCAGGGCCCCCA	0.458000													30	93					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	125					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389326	20389326	+	Silent	SNP	T	T	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:20389326T>G	ENST00000315915.4	+	1	586	c.561T>G	c.(559-561)ctT>ctG	p.L187L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCAAACTTGCCTGCCTGG	0.403000													17	350					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91624076	91624076	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:91624076A>T	ENST00000359028.2	+	7	979	c.754A>T	c.(754-756)Att>Ttt	p.I252F	AKAP9_ENST00000394564.1_Missense_Mutation_p.I240F|AKAP9_ENST00000356239.3_Missense_Mutation_p.I240F|AKAP9_ENST00000358100.2_Missense_Mutation_p.I252F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	252	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAATTACAGATTCAATTTCA	0.274000			T	BRAF	papillary thyroid								9	42					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77431589	77431589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:77431589C>T	ENST00000451710.3	-	11	1541	c.1304G>A	c.(1303-1305)tGg>tAg	p.W435*	TRPM6_ENST00000376871.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W430*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.W435*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W435*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W435*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W430*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	435					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						CTATACCTTCCAGTGTTGTTC	0.378000													19	47					0	0	1	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35664477	35664477	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:35664477G>C	ENST00000378387.3	-	3	363	c.246C>G	c.(244-246)ccC>ccG	p.P82P	ARHGEF39_ENST00000343259.3_Silent_p.P82P|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.P46P	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39																		CTTCCAGGTAGGGAAGCAGCT	0.532000													26	1082					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285206	152285206	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:152285206C>G	ENST00000368799.1	-	3	2191	c.2156G>C	c.(2155-2157)aGc>aCc	p.S719T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	719	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGAGCTGTCTGCTGA	0.567000									Ichthyosis				7	808					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70187310	70187310	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:70187310A>G	ENST00000288050.4	+	18	3026	c.2069A>G	c.(2068-2070)tAc>tGc	p.Y690C	PDPR_ENST00000567046.1_Missense_Mutation_p.Y48C|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.Y590C|PDPR_ENST00000542659.1_Missense_Mutation_p.Y35C|PDPR_ENST00000568530.1_Missense_Mutation_p.Y690C	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	690					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGCATGTATACAATGAAGTG	0.468000													6	40					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103647819	103647819	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr4:103647819C>A	ENST00000226578.4	-	2	298	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	MANBA_ENST00000505239.1_Missense_Mutation_p.D67Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	67					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTAAGGTCATTAAATCTG	0.279000													11	59					5.50884e-06	5.67577e-06	1	1	0
MACF1	23499	broad.mit.edu	37	1	39838217	39838217	+	Silent	SNP	T	T	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:39838217T>C	ENST00000564288.1	+	52	13939	c.13162T>C	c.(13162-13164)Tta>Cta	p.L4388L	MACF1_ENST00000545844.1_Silent_p.L2326L|MACF1_ENST00000567887.1_Silent_p.L4425L|MACF1_ENST00000372915.3_Silent_p.L4393L|MACF1_ENST00000361689.2_Silent_p.L2326L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.L2326L|MACF1_ENST00000289893.4_Silent_p.L2828L|MACF1_ENST00000317713.7_Silent_p.L2326L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4393				C -> Y (in Ref. 1; BAA83821).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGTACTTCTTTAGAAAATCT	0.383000													15	41					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968054	138968054	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:138968054G>A	ENST00000288561.8	+	15	2403	c.2154G>A	c.(2152-2154)ctG>ctA	p.L718L	UBN2_ENST00000473989.2_Silent_p.L801L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	801										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						GTCCAGGACTGAGAGAAGAAA	0.433000													14	67					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416154	54416154	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:54416154G>C	ENST00000391767.1	+	2	281	c.69G>C	c.(67-69)ctG>ctC	p.L23L	CACNG7_ENST00000391766.1_Silent_p.L23L|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Silent_p.L23L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	23					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTGCTCCTGGTAGGCATCG	0.652000													4	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066224	9066224	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:9066224G>A	ENST00000397910.4	-	3	21425	c.21222C>T	c.(21220-21222)ctC>ctT	p.L7074L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7076	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGCTCATGAGAGTGGTCA	0.502000													22	71					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:50048903G>A	ENST00000371564.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S808L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647000													29	94					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79939569	79939569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:79939569A>T	ENST00000373275.4	-	37	4389	c.4173T>A	c.(4171-4173)taT>taA	p.Y1391*	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1391	Bromo 2.									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						GAACATCCTTATAAAATTCCA	0.353000													16	40					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271732	22271732	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr19:22271732C>A	ENST00000594947.1	+	4	1324	c.1180C>A	c.(1180-1182)Cat>Aat	p.H394N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATACTAGAGA	0.363000													8	23					0.00307968	0.00310249	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16327207	16327207	+	Silent	SNP	C	C	T	rs34794258		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:16327207C>T	ENST00000244769.4	-	8	2271	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	ATXN1_ENST00000436367.1_Silent_p.P445P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	445					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCAGTCCCACCGGGAGTGGCT	0.627000													5	243					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99536833	99536833	+	Missense_Mutation	SNP	G	G	A	rs142737434		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:99536833G>A	ENST00000421999.2	+	1	156	c.10G>A	c.(10-12)Gat>Aat	p.D4N	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		AATGGCAGACGATCTCGGAGA	0.652000													14	41					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908602	164908602	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:164908602G>C	ENST00000475390.1	-	2	460	c.17C>G	c.(16-18)gCt>gGt	p.A6G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A6G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	6						integral to membrane		p.A6V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGCATCTCAGCTATGGAAGG	0.383000										HNSCC(40;0.11)			9	69					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65447200	65447200	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr15:65447200C>T	ENST00000300107.3	-	11	1719	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	511					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTGTTTTCTCATCTAGGCTA	0.413000													8	30					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101954212	101954212	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:101954212C>T	ENST00000370397.7	-	17	1882	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	599					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTTGAGCACACGGTCCTGACT	0.408000													9	25					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186911	140186911	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr5:140186911C>T	ENST00000530339.1	+	1	139	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47C|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47C|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.657000													22	140					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150749682	150749682	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:150749682C>T	ENST00000357922.4	+	10	2074	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	ASIC3_ENST00000349064.5_Silent_p.A513A|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	493					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTCCCTGTGCCGTCACCAAGA	0.632000													24	105					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						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.?(6)|p.0(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)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	29					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224911	51224911	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51224911C>G	ENST00000245441.5	-	18	3027	c.2837G>C	c.(2836-2838)aGg>aCg	p.R946T	NIN_ENST00000453196.1_Missense_Mutation_p.R946T|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.R946T|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R946T|NIN_ENST00000530997.2_Missense_Mutation_p.R946T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	946					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTCAGTTCCCTTTTGTGACT	0.542000			T	PDGFRB	MPD								49	148					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145558858	145558858	+	Silent	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:145558858C>T	ENST00000355594.4	+	7	564	c.477C>T	c.(475-477)atC>atT	p.I159I	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	159										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTGATGATCGCATCGCTGG	0.582000													4	188					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48701566	48701566	+	Splice_Site	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr3:48701566C>G	ENST00000341520.4	-	13	2060	c.1965_splice	c.e13-1	p.G656_splice	RP11-148G20.1_ENST00000421275.1_RNA			Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	0					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAACGGTCCCTATGACAT	0.657000											OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	14					0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57611811	57611811	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr20:57611811G>A	ENST00000355937.4	-	4	474	c.296C>T	c.(295-297)tCa>tTa	p.S99L	SLMO2_ENST00000371033.5_Missense_Mutation_p.S69L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	99	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTTTGTAAATGAAATCTACAG	0.284000													4	14					0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47069632	47069632	+	Silent	SNP	C	C	T	rs141922091		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr22:47069632C>T	ENST00000406902.1	+	15	1518	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	GRAMD4_ENST00000361034.3_Silent_p.D435D			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	435					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAGAGGAGGACGCCGGTCGCT	0.617000													5	281					0	0	1	0	0
RP11-637O19.3	0	broad.mit.edu	37	6	10749889	10749889	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr6:10749889G>A	ENST00000480294.1	+	3	190	c.58G>A	c.(58-60)Gca>Aca	p.A20T	TMEM14B_ENST00000461342.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000379542.5_Missense_Mutation_p.A20T|TMEM14B_ENST00000473276.1_Intron|SYCP2L_ENST00000543878.1_5'UTR|TMEM14B_ENST00000475942.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000379530.3_Missense_Mutation_p.A20T|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000467317.1_Missense_Mutation_p.A20T|TMEM14B_ENST00000481240.1_Missense_Mutation_p.A20T																							TGGCTACACAGCACTGGTTGT	0.413000													19	351					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015801	56015801	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr8:56015801C>G	ENST00000327381.5	+	1	853	c.753C>G	c.(751-753)tgC>tgG	p.C251W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	251						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCTTCTGCATCTGGCTCC	0.607000													12	99					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51225167	51225167	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr14:51225167C>G	ENST00000245441.5	-	18	2771	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	NIN_ENST00000453196.1_Missense_Mutation_p.E861Q|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E861Q|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E861Q|NIN_ENST00000530997.2_Missense_Mutation_p.E861Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	861					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCGTCCTTCTCAAATTCCCAC	0.562000			T	PDGFRB	MPD								9	54					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74951892	74951892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:74951892G>A	ENST00000262144.6	-	11	1031	c.901C>T	c.(901-903)Caa>Taa	p.Q301*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	301										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTCACCAGTTGATAGTCCTTG	0.458000													18	76					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518153	108518153	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:108518153G>A	ENST00000375915.2	-	1	930	c.792C>T	c.(790-792)tgC>tgT	p.C264C		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	264						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGCCTCGACGCACTGCCTGC	0.517000													4	138					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880789	100880789	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:100880789C>G	ENST00000341189.4	+	5	1686	c.820C>G	c.(820-822)Cca>Gca	p.P274A	ARMCX3_ENST00000471229.2_Missense_Mutation_p.P274A|ARMCX3_ENST00000537169.1_Missense_Mutation_p.P274A	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	274						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTGAAAATCCAGCCATGAC	0.403000													21	51					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59174703	59174703	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:59174703G>A	ENST00000262717.4	+	6	1325	c.927G>A	c.(925-927)atG>atA	p.M309I	CDH20_ENST00000536675.2_Missense_Mutation_p.M309I|CDH20_ENST00000538374.1_Missense_Mutation_p.M309I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGCAGAGATGAAATATACTA	0.428000													9	56					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202136277	202136277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr2:202136277C>A	ENST00000358485.4	+	3	717	c.521C>A	c.(520-522)tCa>tAa	p.S174*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.S115*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S115*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.S115*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.S115*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S147*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.S115*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	115	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GTGAGCAGATCAGAATTGAGG	0.373000										HNSCC(4;0.00038)			12	65					9.31168e-06	9.52172e-06	1	1	0
OR11L1	391189	broad.mit.edu	37	1	248004707	248004707	+	Silent	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:248004707G>A	ENST00000355784.2	-	1	547	c.492C>T	c.(490-492)tcC>tcT	p.S164S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTCCAACCTGGAAATCATCA	0.552000													29	122					0	0	1	0	0
ISCU	23479	broad.mit.edu	37	12	108957917	108957917	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:108957917G>C	ENST00000338291.4	+	2	213	c.25G>C	c.(25-27)Gac>Cac	p.D9H	ISCU_ENST00000539593.1_Intron|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.D9H|ISCU_ENST00000431221.2_Intron|ISCU_ENST00000311893.9_Intron|ISCU_ENST00000547005.1_Intron			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	0					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						CATGAGTGTAGACCTTTCTAC	0.408000													30	109					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45806993	45806993	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:45806993G>A	ENST00000372090.5	+	3	797	c.214G>A	c.(214-216)Gac>Aac	p.D72N	TOE1_ENST00000539779.1_Missense_Mutation_p.G24E|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	72						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTGGGGACAGGAAGAG	0.552000													17	66					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961123	34961123	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chrX:34961123C>T	ENST00000329357.5	+	1	211	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	59										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACGACTTCCGCTACGCCTG	0.557000													18	64					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105477	14105477	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr18:14105477G>T	ENST00000590202.1	-	3	1214	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAAGGCTTTGCCACATTCTT	0.418000													24	99					3.5997e-14	3.8548e-14	1	1	0
EPSTI1	94240	broad.mit.edu	37	13	43543251	43543251	+	Missense_Mutation	SNP	G	G	C	rs142946395		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr13:43543251G>C	ENST00000313640.7	-	3	374	c.310C>G	c.(310-312)Cac>Gac	p.H104D	EPSTI1_ENST00000398762.3_Missense_Mutation_p.H104D|EPSTI1_ENST00000313624.7_Missense_Mutation_p.H104D|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	104										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GGCACCAGGTGAACCGGTTTA	0.547000													6	53					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796253	4796253	+	Silent	SNP	G	G	C			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:4796253G>C	ENST00000266544.5	+	11	1133	c.1113G>C	c.(1111-1113)ccG>ccC	p.P371P	NDUFA9_ENST00000540688.1_Silent_p.P130P|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	371					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATGTGAAGCCGGCCAAGACCG	0.552000													8	38					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155300201	155300201	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr1:155300201C>T	ENST00000368352.5	+	10	2699	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	850	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGGCAGTGCGGGCTCTCTG	0.617000													4	58					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825562	4825562	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr11:4825562G>T	ENST00000380382.1	-	1	285	c.286C>A	c.(286-288)Ctg>Atg	p.L96M	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.L17M|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCAAGCAGGATGAAGGAC	0.507000													5	51					5.9392e-07	6.16589e-07	1	1	0
SFTPD	6441	broad.mit.edu	37	10	81701732	81701732	+	Silent	SNP	G	G	T			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr10:81701732G>T	ENST00000372292.3	-	5	568	c.528C>A	c.(526-528)gtC>gtA	p.V176V		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	176	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TGTTTCCAGGGACTCCACGCT	0.642000													4	131					1	1	1	1	0
ARMC10	83787	broad.mit.edu	37	7	102738893	102738893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:102738893delT	ENST00000323716.3	+	7	1317	c.925delT	c.(925-927)ttfs	p.F310fs	ARMC10_ENST00000454559.1_Frame_Shift_Del_p.F216fs|ARMC10_ENST00000441711.2_Frame_Shift_Del_p.F275fs|ARMC10_ENST00000428183.2_Frame_Shift_Del_p.F251fs|ARMC10_ENST00000541300.1_Frame_Shift_Del_p.F192fs|ARMC10_ENST00000425331.1_Frame_Shift_Del_p.F251fs	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	310					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGGTTCATTGTTTTTCCTGTT	0.383													15	37	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104752839	104752847	+	In_Frame_Del	DEL	CCTCCACCT	CCTCCACCT	-			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr7:104752839_104752847delCCTCCACCT	ENST00000334877.4	+	26	5044_5052	c.4510_4518delCCTCCACCT	c.(4510-4518)del	p.PPP1507del	KMT2E_ENST00000257745.4_In_Frame_Del_p.PPP1549del|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_In_Frame_Del_p.PPP1549del|KMT2E_ENST00000334914.7_Intron					lysine (K)-specific methyltransferase 2E									p.P1546_P1548delPPP(1)									GGCACCACCCCCTCCACCTCCTCCACCTC	0.450													16	89	---	---	---	---					
RAPGEF3	10411	broad.mit.edu	37	12	48151827	48151830	+	Frame_Shift_Del	DEL	CCCA	CCCA	-			TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr12:48151827_48151830delCCCA	ENST00000395358.3	-	2	126_129	c.38_41delTGGG	c.(37-42)gcfs	p.VG13fs	RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000171000.4_5'UTR			A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACAGCCAGGCCCACCTGCCAGCA	0.657													8	5	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	4	---	---	---	---					
MIR3648-2	103504731	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-QK-A64Z-01A-11D-A30E-08	TCGA-QK-A64Z-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98e1360d-f774-4855-873c-f84cc8ba5fe6	d1846624-f7e1-42a4-9ebe-856fc4c48c5a	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													4	6	---	---	---	---