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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	221					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	ENST00000350721.4	-	15	3158	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V	ATR_ENST00000383101.3_Missense_Mutation_p.L949V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1013					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343000								Other conserved DNA damage response genes					27	50					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	141					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587000													6	220					0.0215528	0.0221353	1	1	0
CCKBR	887	broad.mit.edu	37	11	6292023	6292023	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	ENST00000525462.1	+	4	804	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000334619.2_Silent_p.G267G			P32239	GASR_HUMAN	cholecystokinin B receptor	218					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632000													5	73					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													5	431					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124146	74124146	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr4:74124146G>A	ENST00000358602.4	-	1	356	c.240C>T	c.(238-240)tgC>tgT	p.C80C	ANKRD17_ENST00000330838.6_Silent_p.C80C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	80					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGGGGTCGGCAAGTCCGGT	0.692000													3	42					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969464	140969464	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	ENST00000298296.1	+	4	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	264	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGAGTCTGAGTGATGAG	0.478000													5	199					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35989984	35989984	+	Splice_Site	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	ENST00000297866.5	+	13	2223		c.e13-1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323000													13	1					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	134					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	96					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16959603	16959603	+	RNA	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:16959603G>A	ENST00000412962.1	-	0	74																											CTGCAGTGACGCCTGCCTCAT	0.602000													12	94					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	ENST00000375011.3	+	3	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	201	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627000													3	40					1	1	1	1	0
NDFIP2	54602	broad.mit.edu	37	13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	ENST00000218652.7	+	3	593	c.541A>T	c.(541-543)Acc>Tcc	p.T181S		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	181					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383000													35	58					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66262494	66262494	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	ENST00000380828.2	+	8	1002		c.e8+1		RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000284957.5_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7							voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGAATCAGGTAGTTGCTTA	0.363000													4	85					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	ENST00000257934.4	+	8	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	576					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632000													17	29					4.75885e-15	5.47989e-15	1	1	0
IFNL3	282617	broad.mit.edu	37	19	39735525	39735525	+	Missense_Mutation	SNP	C	C	T	rs629976	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:39735525C>T	ENST00000413851.2	-	1	121	c.83G>A	c.(82-84)cGc>cAc	p.R28H		NM_172139.2	NP_742151.2			interferon, lambda 3																		GAGAGCCCCGCGGAGCCTGGC	0.612000													6	158					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													6	58					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	51					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716591	45716591	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	ENST00000413988.1	-	10	1006	c.966C>T	c.(964-966)ctC>ctT	p.L322L	EXOC3L2_ENST00000252482.3_Silent_p.L322L|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	322										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672000													44	89					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	ENST00000222584.3	+	3	744	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	176					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388000													6	110					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	ENST00000425217.1	-	16	2372	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	KSR2_ENST00000339824.5_Missense_Mutation_p.T802M|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542000													7	60					0	0	1	0	0
CTD-2620I22.1	0	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338000													6	60					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689490	109689490	+	Silent	SNP	A	A	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:109689490A>C	ENST00000277225.5	+	3	3586	c.3297A>C	c.(3295-3297)ccA>ccC	p.P1099P	ZNF462_ENST00000457913.1_Silent_p.P1099P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1099					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1099P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCAC	0.532000													3	42					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36381032	36381032	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	ENST00000373204.4	+	15	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	AGO1_ENST00000373206.1_Silent_p.D564D	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TCATTGAAGACTTGTCCTACA	0.547000													20	142					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	ENST00000381340.3	-	22	3340	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V	RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	975					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTGCAAAATCTCAATGATCTT	0.473000													6	150					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61570928	61570928	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	ENST00000350997.7	-	9	1387	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Silent_p.F76F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	328					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478000													10	316					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687000													58	79					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	123	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652000													9	72					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	ENST00000311331.7	-	6	2661	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328000													89	114					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643066	1643066	+	Silent	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:1643066A>G	ENST00000399682.1	-	1	302	c.258T>C	c.(256-258)ggT>ggC	p.G86G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	86	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G86G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAAG	0.667000													7	186					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	824957	824957	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	ENST00000293892.3	-	7	1614	c.1615G>A	c.(1615-1617)Gcg>Acg	p.A539T	MSLNL_ENST00000442466.1_Missense_Mutation_p.A188T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	188					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716000													18	91					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													4	89					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	ENST00000342449.3	-	6	437	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000333229.2_Missense_Mutation_p.H120R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTGTGTGCCTGCAGTC	0.368000													83	88					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A	rs139541363	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000													4	87					0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20724427	20724427	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:20724427T>C	ENST00000454608.2	-	7	462	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	USP41_ENST00000486536.2_5'UTR					ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACATCAGCGATCTGGTCCTTA	0.468000													4	199					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34242285	34242285	+	Silent	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	ENST00000374114.3	-	3	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	320	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAAATCTCTGACATCATTTT	0.438000													4	153					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000													8	145					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32482250	32482250	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGAAATATTGCGGTACCAAGG	0.468000													4	263					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													6	114					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	ENST00000337103.4	+	5	2062	c.470G>A	c.(469-471)cGt>cAt	p.R157H	C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182					signal transduction		cAMP-dependent protein kinase regulator activity	p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413000													28	44					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	ENST00000253255.5	-	1	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	332	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547000													7	372					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028102	45028102	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	ENST00000454753.1	-	0	667							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGAGTCCTCCCGCTGGACAAT	0.527000													3	6					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	ENST00000371501.4	-	28	3052	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_ENST00000359263.4_Missense_Mutation_p.D977G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G			Q9NZM1	MYOF_HUMAN	myoferlin	977					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATGCATCATCTTCCCATTC	0.458000													73	107					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	ENST00000375244.3	-	25	8941	c.8740G>T	c.(8740-8742)Ggc>Tgc	p.G2914C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C			P22105	TENX_HUMAN	tenascin XB	2961	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGAAGCCGTACAGGTTC	0.657000													4	97					0.00909568	0.00946948	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	ENST00000230538.7	-	14	2178	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	594	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343000													45	74					1.57945e-13	1.79162e-13	1	1	0
RP5-896L10.1	0	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													4	9	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				8	45	---	---	---	---					
AC074391.1	0	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													3	3	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	ENST00000266022.4	+	3	363	c.104delT	c.(103-105)ctfs	p.L35fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	35					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483													72	107	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													7	7	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1																						ATTCCACTGTGAGAGGGCTCAT	0.396													7	28	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													9	247	---	---	---	---					
SVIL	6840	broad.mit.edu	37	10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	ENST00000375398.2	-	29	5251	c.4802delG	c.(4801-4803)atfs	p.S1601fs	SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs			O95425	SVIL_HUMAN	supervillin	1601	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAAACTTCACTACCAAAATC	0.403													37	62	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													10	86	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													9	221	---	---	---	---					
